부산대학교 도서관

Roux CJ; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Dufeu-Berat CM; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Hully M; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Rotig A; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Schiff M; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; De Lonlay P; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Aubart M; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Alison M; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Jaroussie M; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Levy R; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Dangouloff-Ros V; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Barcia G; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Desguerre I; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Munnich A; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Gitiaux C; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.; Boddaert N; From the Departments of Pediatric Radiology (C.-J.R., R.L., V.D.-R., N.B.), Neurology and Metabolism (C.-M.D.-B., M.H., M.S., P.D.L., M. Aubart, I.D., A.M., C.G.), and Genetics (A.R., G.B.), Hôpital Necker-Enfants Malades, AP-HP, Université Paris Cité; IMAGINE Institute INSERM UMR 1163 (C.-J.R., A.R., M.S., M. Aubart, R.L., V.D.-R., G.B., A.M., N.B.), Paris; INSERM Institut Necker-Enfants Malades (P.D.L.), Paris; and Departments of Pediatric Radiology (M. Alison) and Neurology (M.J.), Hospital Robert Debré, Université Paris Cité, France.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Sung AY; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Guerra RM; Department of Cell Biology and Physiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Steenberge LH; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.; Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.; Shimura M; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Ghezzi D; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milan, Italy.; Torraco A; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Carrozzo R; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Rötig A; Université Paris Cité, Imagine Institute, INSERM UMR 1163, Paris, France.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Keck JL; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Pagliarini DJ; Department of Cell Biology and Physiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. pagliarini@wustl.edu.; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.

Publisher: Springer Nature Country of Publication: Germany NLM ID: 101736592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2522-5812 (Electronic) Linking ISSN: 25225812 NLM ISO Abbreviation: Nat Metab Subsets: MEDLINE

Wortmann SB; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Feichtinger RG; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Abela L; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; van Gemert LA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Aubart M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Dufeu-Berat CM; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Boddaert N; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; de Coo R; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Stühn L; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Hebbink J; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Heinritz W; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Hildebrandt J; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Himmelreich N; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Korenke C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Lehman A; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Leyland T; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Makowski C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Martinez Marin RJ; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Marzin P; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Mühlhausen C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Rio M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Rotig A; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Roux CJ; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Schiff M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Haack TB; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Syrbe S; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Zylicz SA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Thiel C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Veiga da Cunha M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; van Schaftingen E; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Wagner M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Mayr JA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Wevers RA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Boltshauser E; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Mansour-Hendili L; Département de Biochimie-Biologie Moléculaire, Pharmacologie, Génétique Médicale, AP-HP, Hôpitaux Universitaires Henri Mondor, Créteil, France.; IMRB Equipe Pirenne, Laboratoire d'excellence LABEX GRex, Université Paris-Est Créteil, Créteil, France.; Gitiaux C; Université Paris Cité, Paris, France.; Service de Neurophysiologie Clinique Pédiatrique, Centre de Référence des Pathologies Neuromusculaires, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Harion M; Université de Médecine, Sorbonne Université, Paris, France.; INSERM, Paris, France.; Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France.; Latouche C; Département de Biochimie-Biologie Moléculaire, Pharmacologie, Génétique Médicale, AP-HP, Hôpitaux Universitaires Henri Mondor, Créteil, France.; Heron B; Université de Médecine, Sorbonne Université, Paris, France.; Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France.; Stojkovic T; Centre de Référence des maladies Neuromusculaires Nord/Est/Ile-de-France Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France.; Rama M; Institut de Génétique, CHU Lille, Lille, France.; Smol T; Institut de Génétique, CHU Lille, Lille, France.; University of Lille, ULR7364-RADEME, Lille, France.; Sophie Jourdain A; University of Lille, ULR7364-RADEME, Lille, France.; Service de Biochimie et Biologie Moléculaire, CHU Lille, Lille, France.; Mention K; Centre de Référence des Maladies Héréditaires du Métabolisme, Service Néphrologie, Endocrinologie, Maladies Métaboliques et Hématologie Pédiatrique, Hôpital Jeanne de Flandre, Lille, France.; Nadjar Y; Département de Neurologie UF Neuro-Métabolisme, Centre de Référence des maladies Métaboliques et Lysosomales à expression Neurologique (CRML-Neuro), APHP-SU, Hôpital Pitié-Salpêtrière, Paris, France.; Schiff M; Université Paris Cité, Paris, France.; Reference Centre for Mitochondrial Disorders (CARAMMEL), Reference Centre for Inherited Metabolic Diseases (MaMea), Hôpital Necker-Enfants-Malades, APHP, Paris, France.; Imagine Institute, Genetics of Mitochondrial Disorders, INSERM, Paris, France.; Lemale J; Department of Paediatric Nutrition and Gastroenterology, Reference Centre for Rare Digestive Diseases, Trousseau Hospital, APHP, Paris, France.; Ghoumid J; University of Lille, ULR7364-RADEME, Lille, France.; CHU Lille, Clinique de Génétique, Guy Fontaine, Lille, France.; Gottrand F; University Lille, CHU Lille, Infinite U1286 Inserm, Lille, France.; Service de gastroentérologie, hépatologie et Nutrition Pédiatrique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; Talbotec C; Pediatric Gastroenterology-Hepatology-Nutrition, Hôpital Necker-Enfants Malades, Paris, France.; Rötig A; Université Paris Cité, Paris, France.; Imagine Institute, Genetics of Mitochondrial Disorders, INSERM, Paris, France.; Funalot B; Département de Biochimie-Biologie Moléculaire, Pharmacologie, Génétique Médicale, AP-HP, Hôpitaux Universitaires Henri Mondor, Créteil, France.; Université Paris-Est Créteil, INSERM, IMRB, Créteil, France.; Desguerre I; Université Paris Cité, Paris, France.; Paediatric Neurology Department, Necker-Enfants malades University Hospital, Assistance Publique Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Pontoizeau C; Necker Hospital, APHP, Biochemistry, Metabolomics Unit, University Paris Cité, Paris, France.; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.; Gaborit C; Inserm UMR_S1163, Institut Imagine, Paris, France.; Tual N; Inserm UMR_S1163, Institut Imagine, Paris, France.; Simon-Sola M; Inserm UMR_S1163, Institut Imagine, Paris, France.; Rotaru I; Inserm UMR_S1163, Institut Imagine, Paris, France.; Benoist M; Inserm UMR_S1163, Institut Imagine, Paris, France.; Colella P; Généthon INTEGRARE UMR-S951, University of Evry, Evry, France.; Lamazière A; CRSA, St Antoine Hospital, Paris, France.; Brassier A; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Arnoux JB; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Rötig A; Inserm UMR_S1163, Institut Imagine, Paris, France.; Ottolenghi C; Necker Hospital, APHP, Biochemistry, Metabolomics Unit, University Paris Cité, Paris, France.; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.; de Lonlay P; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm U1151, Institut Necker Enfants Malades, Paris, France.; Mingozzi F; Généthon INTEGRARE UMR-S951, University of Evry, Evry, France.; Cavazzana M; Inserm UMR_S1163, Institut Imagine, Paris, France.; Necker Hospital, APHP, Biotherapies Department and Clinical Investigation Center, Inserm, University Paris Cité, Paris, France.; Schiff M; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: georg.vogel@i-med.ac.at.; Mozer-Glassberg Y; Institute for Gastroenterology, Nutrition and Liver diseases, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.; Landau YE; Metabolism Service, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schlieben LD; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Brennenstuhl H; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schröter J; Division of Paediatric Epileptology, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Pechlaner A; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Baker JJ; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Barcia G; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France.; Baric I; Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia.; Braverman N; Division of Medical Genetics, Department of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Coman D; Faculty of Medicine, Queensland Children's Hospital, University of Queensland, Herston, Brisbane, Queensland, Australia.; Das AM; Department of Paediatrics, Paediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Della Marina A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- und Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany.; Eklund EA; Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden.; Ersoy M; Department of Pediatrics, Division of Pediatric Metabolism, University of Health Sciences, Bakırkoy Dr. Sadi Konuk Training and Research, Istanbul, Turkey.; Fang W; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Gaignard P; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, Paris, France.; Ganetzky RD; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.; Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, Paris, France; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, Paris, France.; Howard C; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.; Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.; Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Kose M; Division of Inborn Errors of Metabolism, Department of Pediatrics, İzmir Katip Çelebi University, Izmir, Turkey; Division of Genetics, Department of Pediatrics, Ege University, Izmir, Turkey.; Kerr M; Discovery DNA, Metabolics and Genetics in Canada (M.A.G.I.C.) Clinic Ltd, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Khan A; Discovery DNA, Metabolics and Genetics in Canada (M.A.G.I.C.) Clinic Ltd, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Lenz D; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Margolis MG; Institute of Endocrinology and Diabetes, National Center of Childhood Diabetes Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.; Morrison K; Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan.; Nicastro E; Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.; Pennisi A; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Rötig A; Institut Imagine, INSERM UMR 1163, Paris, France.; Santer R; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR.; Schiff M; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France; Reference Center of Inherited Metabolic Disorders, Necker Hospital, Université Paris Cité, Paris, France.; Shagrani M; Department of Liver & Small Bowel Health Centre King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Sharrard M; Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Staufner C; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Storey I; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.; Stormon M; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Thorburn DR; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Teles EL; Inherited Metabolic Diseases Reference Centre, São João Hospital University Centre, EPE, Porto, Portugal.; Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Weghuber D; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Wortmann S; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Boutaud L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.; Embryology and genetics of human malformations, Université Paris Cité, Imagine institute, Inserm UMR 1163, 75015 Paris, France.; Ruzzenente B; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.; Tessier A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Anselem O; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Pannier E; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Grotto S; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Talhi N; Pathological Anatomy and Cytology, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France.; Amram D; Medical Genetics Department, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France.; Willems M; Medical Genetics Department, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Montpellier university Hospital, 34295 Montpellier, France.; Wells C; Medical Genetics Department, Montpellier university Hospital, 34295 Montpellier, France.; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.; Blanchet P; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.; Musizzano Y; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France.; Jauny C; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France.; Nitschke P; Bioinformatics platform, Structure Fédérative de Recherche de Necker, Université Paris Cité, Institut Imagine, Inserm UMR 1163, 75015 Paris, France.; Bole-Feysot C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, 75015 Paris, France.; Bessières B; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Salhi H; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Achaiaa A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Metodiev MD; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.; Razavi F; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Rötig A; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France.; Loeuilllet L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Attié-Bitach T; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Chatzovoulou K; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Mayeur A; Reproductive Biology Department, CECOS, Paris-Saclay University, Antoine-Béclère Hospital, APHP, Clamart, France.; Cagnard N; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.; Zarhrate M; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Bole C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Nitschke P; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.; Jabot-Hanin F; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.; Rötig A; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Monnot S; Genomic Medicine Department, Necker-Enfants Malades Hospital, APHP, Paris, France.; Munnich A; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Genomic Medicine Department, Necker-Enfants Malades Hospital, APHP, Paris, France.; Frydman N; Reproductive Biology Department, CECOS, Paris-Saclay University, Antoine-Béclère Hospital, APHP, Clamart, France.; Steffann J; Paris-Cité University, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163, Paris, France.; Genomic Medicine Department, Necker-Enfants Malades Hospital, APHP, Paris, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

Cafournet C; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Zanin S; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Guimier A; Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Genomic Medicine Service for Rare Diseases, APHP.CUP, Necker Enfants Malades Hospital, 75015 Paris, France.; Hully M; Pediatric Neurology Department, Necker Enfants Malades Hospital, AP-HP, Institute Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Assouline Z; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.; Barcia G; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.; de Lonlay P; Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Université Paris Cité, INEM-1151, G2M, MetabERN, 75015 Paris, France.; Steffann J; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.; Munnich A; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Bonnefont JP; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.; Rötig A; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Ruzzenente B; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Metodiev MD; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101580444 Publication Model: Electronic Cited Medium: Print ISSN: 2075-1729 (Print) Linking ISSN: 20751729 NLM ISO Abbreviation: Life (Basel) Subsets: PubMed not MEDLINE

Barbier M; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; Pennisi A; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.; Jacoupy M; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Tankard RM; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; Ewenczyk C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Davies KC; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Lino-Coulon P; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Colace C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Rafehi H; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; Auger N; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Paris Sciences Lettres Research University, EPHE, Paris, France.; Ansell BRE; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; van der Stelt I; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.; Donders Centre for Neuroscience, Faculty of Science, Radboud University, Nijmegen, The Netherlands.; Howell KB; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Coutelier M; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Paris Sciences Lettres Research University, EPHE, Paris, France.; Amor DJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Mundwiller E; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Guillot-Noël L; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Paris Sciences Lettres Research University, EPHE, Paris, France.; Storey E; School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.; Gardner RJM; Clinical Genetics Group, University of Otago, Dunedin, New Zealand.; Wallis MJ; Clinical Genetics Service, Austin Health, Melbourne, Australia; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.; Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Corti O; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Rötig A; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Brice A; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Stevanin G; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Paris Sciences Lettres Research University, EPHE, Paris, France.; Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Durr A; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE