부산대학교 도서관

Perrier S; Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.; Child Health and Human Development Program Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada.; Macintosh J; Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.; Child Health and Human Development Program Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada.; Misiaszek AD; Structural and Computational Biology Unit European Molecular Biology Laboratory, Heidelberg, Germany.; Faculty of Biosciences Heidelberg University, Heidelberg, Germany.; Lambert G; Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.; Child Health and Human Development Program Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada.; Department of Pediatrics McGill University, Montréal, Quebec, Canada.; Guerrero K; Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.; Child Health and Human Development Program Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada.; Tran LT; Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.; Child Health and Human Development Program Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada.; Müller CW; Structural and Computational Biology Unit European Molecular Biology Laboratory, Heidelberg, Germany.; Pastinen T; Genomic Medicine Center Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Maegawa GHB; Departments of Pediatrics and Genetics Columbia University Irving Medical Center, New York, New York, USA.; Thiffault I; Genomic Medicine Center Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine Children's Mercy Hospital, Kansas City, Missouri, USA.; Bernard G; Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.; Child Health and Human Development Program Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada.; Department of Pediatrics McGill University, Montréal, Quebec, Canada.; Department of Human Genetics McGill University, Montréal, Quebec, Canada.; Department of Specialized Medicine Division of Medical Genetics Montreal Children's Hospital and McGill University Health Centre, Montréal, Quebec, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Amir Yazdani, Pouneh; St-Jean, Marie-Lou; Matovic, Sara; Spahr, Aaron; Tran, Luan T; Boucher, Renée-Myriam; Poulin, Chantal; Osterman, Bradley; Srour, Myriam; Rosenblatt, Bernard; Chenier, Sébastien; Soucy, Jean-Francois; Laberge, Anne-Marie; Braverman, Nancy; D'Agostino, Maria Daniela; Nguyen, Cam-Tu Emilie; Morsa, Maxime; Bernard, Geneviève

Journal of Child Neurology. 37:237-245

Macintosh J; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Pinard M; Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Prasad C; Department of Pediatrics, London Health Sciences Center and Western University, London, ON, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Center, London, ON, Canada.; Children's Health Research Institute, London, ON, Canada.; Prasad AN; Department of Pediatrics, London Health Sciences Center and Western University, London, ON, Canada.; Children's Health Research Institute, London, ON, Canada.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States.; University of Missouri Kansas City School of Medicine, Kansas City, MO, United States.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, United States.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States.; University of Missouri Kansas City School of Medicine, Kansas City, MO, United States.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States.; Coulombe B; Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada.; Département de Biochimie et Médecine Moléculaire, Faculté de Médecine, Université de Montréal, Montreal, QC, Canada.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Potic A; Clinic for Child Neurology and Psychiatry, Department of Neurology, University of Belgrade, 6A Dr. Subotica Street, 11000, Belgrade, Serbia. a.potic@yahoo.com.; Perrier S; Departments of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Radovic T; University Children's Hospital, Department of Radiology, University of Belgrade, Belgrade, Serbia.; Gavrilovic S; University Clinical Centre of Serbia, Centre for Radiology and Magnetic Resonance, University of Belgrade, Belgrade, Serbia.; Ostojic J; Faculty of Medicine, Department of Radiology, University of Novi Sad, Novi Sad, Serbia.; Tran LT; Departments of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Schiffmann R; Texas Neurology, 6080 N Central Expy Ste 100, Dallas, TX, USA.; Bernard G; Departments of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Departments of Pediatrics and Human Genetics, McGill University, Montreal, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Canada.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Michell-Robinson MA; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Legault G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Sylvain M; Division of Pediatric Neurology, Centre Mère-Enfant Soleil du CHU de Québec - Université Laval, Québec City, QC, Canada.; Dorman J; John H. Stroger Jr. Hospital of Cook County, Chicago, IL, United States.; Department of Neurological Sciences, Rush Medical College, Chicago, IL, United States.; Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.; Köhler W; Leukodystrophy Center, University of Leipzig Medical Center, Leipzig, Germany.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States.; University of Missouri Kansas City School of Medicine, Kansas City, MO, United States.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States.; University of Missouri Kansas City School of Medicine, Kansas City, MO, United States.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Yazdani PA; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Université Laval, Québec, Québec, Canada.; St-Jean ML; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Université de Montréal, Montréal, Québec, Canada.; Matovic S; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Spahr A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Tran LT; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Boucher RM; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de l'Université Laval, Québec, Québec, Canada.; Poulin C; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Osterman B; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Srour M; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Rosenblatt B; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Chénier S; Department of Medical Genetics, Université de Sherbrooke, Sherbrooke, Québec, Canada.; Soucy JF; Department of Pediatrics, Université de Montréal, Montréal, Québec Canada.; Medical Genetics Division, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec Canada.; Laberge AM; Department of Pediatrics, Université de Montréal, Montréal, Québec Canada.; Medical Genetics Division, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec Canada.; D'Agostino MD; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Nguyen CE; Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada.; Morsa M; Université de Montréal, Montréal, Québec, Canada.; Laboratory of Health Education and Promotion, Sorbonne Paris Nord University, Villetaneuse, France.; Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Department of Pediatrics, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Derksen A; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; De Bie I; Department of Human Genetics, McGill University, Montreal, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University, Montreal, Canada.; Department of Laboratory Medicine, McGill University Health Centre, Montreal, Canada.; Nadeau A; Department of Pediatrics, Division of Pediatric Neurology, Université de Sherbrooke, Sherbrooke, QC, Canada.; Lovett A; Department of Pediatrics, McGill University, Montreal, Canada.; Department of Dermatology, McGill University, Montreal, Canada.; Raams A; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Vermeulen W; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Theil AF; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada. genevieve.bernard@mcgill.ca.; Department of Pediatrics, McGill University, Montreal, Canada. genevieve.bernard@mcgill.ca.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada. genevieve.bernard@mcgill.ca.; Department of Human Genetics, McGill University, Montreal, Canada. genevieve.bernard@mcgill.ca.; Department of Specialized Medicine, Division of Medical Genetics, McGill University, Montreal, Canada. genevieve.bernard@mcgill.ca.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Mirchi, Amytice; Pelletier, Félixe; Tran, Luan T; Keller, Stephanie; Braverman, Nancy; Tonduti, Davide; Vanderver, Adeline; Pizzino, Amy; Dilenge, Marie-Emmanuelle; Poulin, Chantal; Shevell, Michael; Majnemer, Annette; Sébire, Guillaume; Srour, Myriam; Osterman, Bradley; Boucher, Renée-Myriam; Vanasse, Michel; Rossignol, Elsa; Mitchell, John; Venkateswaran, Sunita; Pohl, Daniela; Kauffman, Marcelo; Schiffmann, Raphael; Goizet, Cyril; Moutton, Sebastien; Roncarolo, Federico; Bernard, Geneviève

CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas

Spahr A; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; Rosli Z; McGill Centre for Integrative Neuroscience, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.; Legault M; McGill Centre for Integrative Neuroscience, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; Fournier S; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; Toutounchi H; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; Darbelli L; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; Madjar C; McGill Centre for Integrative Neuroscience, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.; Lucia C; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; St-Jean ML; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.; Department of Pediatrics, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada.; Das S; McGill Centre for Integrative Neuroscience, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.; Evans AC; McGill Centre for Integrative Neuroscience, Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. genevieve.bernard@mcgill.ca.; Department of Pediatrics, McGill University, Montréal, Québec, Canada. genevieve.bernard@mcgill.ca.; Department of Human Genetics, McGill University, Montréal, Québec, Canada. genevieve.bernard@mcgill.ca.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada. genevieve.bernard@mcgill.ca.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montréal, Québec, Canada. genevieve.bernard@mcgill.ca.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Derksen A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Department of Pediatrics, McGill University, Montréal, Canada.; Tran LT; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Cao-Lei L; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Oskoui M; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Department of Pediatrics, McGill University, Montréal, Canada.; Srour M; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Department of Pediatrics, McGill University, Montréal, Canada.; Poulin C; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Department of Pediatrics, McGill University, Montréal, Canada.; Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Department of Pediatrics, McGill University, Montréal, Canada.; Department of Human Genetics, McGill University, Montréal, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, Canada.

Publisher: SAGE Publications Inc Country of Publication: United States NLM ID: 101691975 Publication Model: eCollection Cited Medium: Internet ISSN: 2329-048X (Electronic) Linking ISSN: 2329048X NLM ISO Abbreviation: Child Neurol Open Subsets: PubMed not MEDLINE

Pelletier F; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.; Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Cayami FK; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.; Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Saikali S; Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Rampakakis E; Department of Pediatrics, McGill University, Montreal, QC, Canada.; van Spaendonk RML; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Pohl D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Gibson WT; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.; Goizet C; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Tejera-Martin I; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Potic A; Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia.; Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute, Montreal, QC, Canada.; Sylvain M; Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada.; Sébire G; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada.; Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Catsman-Berrevoets C; Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.; Pinto PS; Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal.; Tirupathi S; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, 0450 Oslo, and University of Oslo, Oslo, Norway.; de Grauw T; Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA.; Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.; Krägeloh-Mann I; Department of Child Neurology, University Children's Hospital Tübingen, Tübingen, Germany.; Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.; Philippi H; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany.; Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Atik T; Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.; Banwell B; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Benko WS; Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA.; Blaschek A; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Boltshauser E; Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Brozova K; Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic.; Cimas I; Department of Neurology, Povisa Hospital, Vigo, Spain.; Clough C; Department of Neurology, King's College Hospital, London, UK.; Corenblum B; Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada.; Dinopoulos A; Third Department of Pediatrics, National and Kapodistrian University of Athens, 'Attikon' Hospital, Athens, Greece.; Dolan G; Bristow Pediatrics, Bristow, VA, USA.; Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Fernandez R; Pediatric Neurology Associates, Tampa, FL, USA.; Fletcher J; Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Garcia Garcia ME; Department of Neurology, The Royal London Hospital, London, UK.; Gasparini P; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34100 Trieste, and University of Trieste, Trieste, Italy.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany.; Gonzalez Moron D; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina.; Hamati A; Department of Child Neurology, Indiana University, Indianapolis, IN, USA.; Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.; Hertzberg C; Department of Child Neurology, Vivantes Klinikum, Berlin, Germany.; Hill A; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Kauffman M; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, ADC, Buenos Aires, Argentina.; Kirwin SM; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Kluger G; PMU Salzburg, 5020 Salzburg, Austria; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany.; Kolditz P; Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland.; Kotzaeridou U; Department of Child Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany.; La Piana R; Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.; Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; McClintock W; Pediatric Specialists of Virginia, Fairfax, VA, USA.; Department of Neurology, Children's National Medical Center, Washington, DC, USA.; McEntagart M; South West Thames Regional Genetics Service, St. George's Hospital, London, UK.; McKenzie F; Genetic Services of Western Australia, Subiaco, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Melançon S; Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, QC, Canada.; Misbahuddin A; Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK.; Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Monton FI; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Moutton S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Murphy RPJ; Department of Neurology, Tallaght University Hospital, Tallaght, Ireland.; Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Onay H; Department of Medical Genetics, Ege University, Izmir, Turkey.; Orcesi S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.; Özkınay F; Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Patzer S; Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany.; Pedro H; Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA.; Pekic S; Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia.; Pineda Marfa M; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain.; Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA.; Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.; Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, 1105 Amsterdam, The Netherlands.; Popovic V; Medical Faculty, University of Belgrade, Belgrade, Serbia.; Rating D; Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany.; Rioux MF; Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada.; Rodriguez Espinosa N; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Ronan A; Hunter New England LHD, University of Newcastle, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Rossignol E; Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada.; Sanchez-Carpintero R; Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain.; Schossig A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Senbil N; Department of Child Neurology, Kırıkkale University Medical Faculty, Kırıkkale, Turkey.; Sønderberg Roos LK; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Stevens CA; Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.; Sztriha L; Department of Paediatrics, University of Szeged, Szeged, Hungary.; Tibussek D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Timmann D; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.; Vázquez-López M; Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Wasling P; Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Wassmer E; Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.; Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Wiegand G; Department of Pediatric Neurology, University Hospital Kiel, Germany.; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.; Yoon G; Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Rotteveel J; Emma Children's Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Schiffmann R; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA.; van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Martos-Moreno GÁ; Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; CIBER de Fisiopatologia de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Polychronakos C; Division of Endocrinology, Montreal Children's Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Chapleau A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Mirchi A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada; Department of Pediatrics, McGill University, Montréal, Canada.; Tran LT; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.; Poulin C; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada; Department of Pediatrics, McGill University, Montréal, Canada.; Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada; Department of Pediatrics, McGill University, Montréal, Canada; Department of Human Genetics, McGill University, Montréal, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, Canada. Electronic address: genevieve.bernard@mcgill.ca.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Guay SP; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Quebec, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, Netherlands.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Montreal Neurological Institute, Montreal, Quebec, Canada.; Sylvain M; Centre Mère Enfant, CHU de Québec, Québec City, Quebec, Canada.; Pohl D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.; Rossignol E; Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.; Saito M; Department of Pediatrics, University of California Riverside School of Medicine, Riverside Medical Clinic, Riverside, California, USA.; Moutton S; Centre Pluridisciplinaire de Diagnostic PréNatal, MSPBordeaux Bagatelle, Talence, France.; González-Gutiérrez-Solana L; Sección de Neuropediatría, Hospital Infantil Universitario Niño Jesús, Madrid, España; Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red para Enfermedades Raras (CIBERER) GCV14/ER/6, Hospital Infantil Universitario Nino Jesus, Madrid, Spain.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Kruer MC; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA.; Programs in Neuroscience and Molecular & Cellular Biology, School of Life Sciences, Arizona State University, Tempe, Arizona, USA.; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Moron DG; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina.; Kauffman M; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET-Universidad Austral, Buenos Aires, Argentina.; Goizet C; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, CHU Bordeaux, Bordeaux, France.; NRGEN team, INCIA, CNRS UMR 5287, University of Bordeaux, Bordeaux, France.; Sztriha L; Department of Paediatrics, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.; Glamuzina E; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, Te Whatu Ora, New Zealand.; Melançon SB; Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, Quebec, Canada.; Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.; Retrouvey JM; Department of Orthodontics, University of Missouri, Kansas City, Missouri, USA.; Lacombe S; Department of Orthodontics, University of Missouri, Kansas City, Missouri, USA.; Bernardino-Cuesta B; Sección de Neuropediatría, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.; De Bie I; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Quebec, Canada.; Department of Laboratory Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada genevieve.bernard@mcgill.ca.; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Quebec, Canada.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Friedman J; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Smith DE; Department of Clinical Chemistry, Metabolic Unit, Amsterdam UMC (University Medical Centers), Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.; Gastroenterology & Metabolism Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.; Issa MY; Department of Clinical Genetics, National Research Centre, Cairo, 12311, Egypt.; Stanley V; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA.; Wang R; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA.; Mendes MI; Department of Clinical Chemistry, Metabolic Unit, Amsterdam UMC (University Medical Centers), Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.; Gastroenterology & Metabolism Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.; Wright MS; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Wigby K; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Hildreth A; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Crawford JR; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Koehler AE; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA.; Chowdhury S; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Nahas S; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Zhai L; IAS HKUST-Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.; Xu Z; IAS HKUST-Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China.; Lo WS; IAS HKUST-Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China.; James KN; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA.; Musaev D; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA.; Accogli A; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, H3A 0G4, Canada.; IRCCS Istituto Giannina Gaslini, Genova, 16147, Italy.; Guerrero K; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, H3A 0G4, Canada.; Division of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, H4A 3J1, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, H4A 3J1, Canada.; Tran LT; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, H3A 0G4, Canada.; Division of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, H4A 3J1, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, H4A 3J1, Canada.; Omar TEI; Department of Pediatrics, Alexandria University, Alexandria, 21526, Egypt.; Ben-Omran T; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, 3050, Doha, Qatar.; Dimmock D; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Kingsmore SF; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Salomons GS; Department of Clinical Chemistry, Metabolic Unit, Amsterdam UMC (University Medical Centers), Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.; Gastroenterology & Metabolism Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.; Zaki MS; Department of Clinical Genetics, National Research Centre, Cairo, 12311, Egypt.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, H3A 0G4, Canada.; Division of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, H4A 3J1, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, H4A 3J1, Canada.; Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@ucsd.edu.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@ucsd.edu.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@ucsd.edu.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@ucsd.edu.; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA. jogleeson@ucsd.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Gutierrez, Mariana; Thiffault, Isabelle; Guerrero, Kether; Martos-Moreno, Gabriel A; Tran, Luan T; Benko, William; van der Knaap, Marjo S; van Spaendonk, Rosalina M L; Wolf, Nicole I; Bernard, Geneviève; Martos-Moreno, Gabriel Á

Orphanet Journal of Rare Diseases. Jan2015, Vol. 10 Issue 1, p69-69. 1p.

Michell-Robinson MA; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.; Perrier S; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.; Lucia C; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.; Tran LT; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.; Thiffault I; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.; Köhler W; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.; Bernard G; From the Departments of Neurology and Neurosurgery (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Pediatrics (G.B.), and Human Genetics (G.B.), McGill University; Child Health and Human Development Program (M.A.M.-R., S.P., C.L., L.T.T., G.B.), Research Institute of the McGill University Health Centre, Montréal, Canada; Center for Pediatric Genomic Medicine (I.T.) and Department of Pathology (I.T.), Children's Mercy Hospital; Faculty of Medicine (I.T.), University of Missouri, Kansas City; Department of Neurology (W.K.), Leukodystrophy Center, University of Leipzig Medical Center, Germany; and Department of Specialized Medicine (G.B.), Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Canada.

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

Derksen A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.; Shih HY; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.; Forget D; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Darbelli L; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.; Tran LT; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.; Poitras C; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Guerrero K; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.; Tharun S; Department of Biochemistry, Uniformed Services University of Health Sciences (USUHS), Bethesda, MD 20814, USA.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Kurdi WI; Department of Obstetrics and Gynecology, Maternal Fetal Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Nguyen CE; Neurosciences Department, Université de Montréal, Montréal, QC H3T 1J4, Canada.; Laberge AM; Service de Génétique Médical, CHU Sainte-Justine, Montréal, QC H3T 1C5, Canada.; Si Y; GeneDx, Gaithersburg, MD 20877, USA.; Gauthier MS; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.; Brain and Spine Center and Primary Children's Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, UT 84113, USA.; Coulombe B; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada.; Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Pediatrics, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Human Genetics, McGill University, Montréal, H3A 0G4, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, Canada.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

Thiffault I; 1] Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada. [2] Service de Génétique, Centre Hospitalier Universitaire Sainte-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec H3T1C5, Canada. [3] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, Missouri 64108, USA.; Wolf NI; Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ, The Netherlands.; Forget D; Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada.; Guerrero K; Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.; Choquet K; Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4, Canada.; Lavallée-Adam M; Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037, USA.; Poitras C; Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada.; Brais B; Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4, Canada.; Yoon G; Division of Neurology and Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.; Sztriha L; Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726, Hungary.; Webster RI; 1] T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia. [2] Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead New South Wales 2145, Australia.; Timmann D; Department of Neurology, University Clinic Essen, University of Duisburg-Essen, Hufelandstrasse 55, 45147 Essen, Germany.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, PO Box 9101, Nijmegen 6500 HB, The Netherlands.; Seeger J; Department of Pediatrics and Adolescent Medicine, Deutsche KlinikfürDiagnostik, Wiesbaden 65191, Germany.; Zimmermann A; Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726, Hungary.; Máté A; Department of Neurosurgery, Faculty of Medicine, University of Szeged, 6 Semmelweis Street, Szeged H-6725, Hungary.; Goizet C; Service de Génétique, Hôpital Pellegrin, CHU Bordeaux and University Bordeaux, Laboratoire MRGM (EA4576), Bordeaux 33076, France.; Fung E; Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, SAR China.; van der Knaap MS; Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ, The Netherlands.; Fribourg S; 1] Université de Bordeaux, Institut Européen de Chimie et Biologie, ARNA Laboratory, Pessac F-33607, France. [2] Institut National de la Santé Et de la Recherche Médicale, INSERM-U869, ARNA Laboratory, Bordeaux F-33000, France.; Vanderver A; 1] Center for Genetic Medicine Research, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [2] Department of Neurology, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [3] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA.; Simons C; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia.; Taft RJ; 1] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA. [2] Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia. [3] Departments of Integrative Systems Biology and Pediatrics, School of Medicine and Health Sciences, The George Washington University, Washington, District of Columbia 20037, USA. [4] Illumina Inc., 5200 Illumina Way, San Diego, California 92122, USA.; Yates JR 3rd; Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037, USA.; Coulombe B; 1] Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada. [2] Department of Biochemistry, Université de Montréal, Pavillon Roger-Gaudry, CP 6128, Succ Centre-Ville, Montreal, Québec H3C 3J7, Canada.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Perrier S; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Gauquelin L; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Fallet-Bianco C; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Dishop MK; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Michell-Robinson MA; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Tran LT; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Guerrero K; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Darbelli L; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Srour M; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Petrecca K; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Renaud DL; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Saito M; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Cohen S; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Leiz S; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Alhaddad B; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Haack TB; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Tejera-Martin I; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Monton FI; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Rodriguez-Espinosa N; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Pohl D; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Nageswaran S; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Grefe A; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Glamuzina E; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.; Bernard G; Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.

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

Kashani A; Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada, ali.kashani@mail.mcgill.ca.; Thiffault I; Dilenge ME; Saint-Martin C; Guerrero K; Tran LT; Shoubridge E; van der Knaap MS; Braverman N; Bernard G

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE