부산대학교 도서관

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Nat Genet
Nature genetics
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Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
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D'Gama, Alissa M, PhD; Mulhern, Sarah, MGenCouns; Sheidley, Beth R, MS; Boodhoo, Fadil, MD; Buts, Sarah, MD; Chandler, Natalie J, PhD; Cobb, Joanna, PhD; Curtis, Meredith, MHSc; Higginbotham, Edward J, MSc; Holland, Jonathon, MB BChir; Khan, Tayyaba, MPH; Koh, Julia, BS; Liang, Nicole S Y, MSc; McRae, Lyndsey, MN; Nesbitt, Sarah E, PhD; Oby, Brandon T, BS; Paternoster, Ben, BSc; Patton, Alistair, MBBCh; Rose, Graham, PhD; Scotchman, Elizabeth, PhD; Valentine, Rozalia, MS; Wiltrout, Kimberly N, MD; Hayeems, Robin Z, PhD; Jain, Puneet, DM; Lunke, Sebastian, PhD; Marshall, Christian R, PhD; Rockowitz, Shira, PhD; Sebire, Neil J, Prof; Stark, Zornitza, Prof; White, Susan M, Prof; Chitty, Lyn S, Prof; Cross, J Helen, Prof; Scheffer, Ingrid E, Prof; Chau, Vann, MD; Costain, Gregory, PhD; Poduri, Annapurna, Prof; Howell, Katherine B, PhD; McTague, Amy, PhD

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Rockowitz S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; French C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Truong TK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Hagen J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; McGonigle R; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Geltzeiler A; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Sheidley B; Boston Children's Hospital, Department of Neurology, Boston, MA, USA.; Smith L; Boston Children's Hospital, Department of Neurology, Boston, MA, USA.; D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Division of Newborn Medicine, Boston, MA, USA.; Irons M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Chou J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Division of Immunology, Boston, MA, USA.; Stoler J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Rodan L; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA.; Shimamura A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA; Dana Farber Cancer Institute, Boston, MA, USA.; Bodamer O; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Soul JS; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; 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Boston Children's Hospital, Department of Neurology, Boston, MA, USA.; Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wojcik MH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Division of Newborn Medicine, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sliz P; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.; Chung WK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: Wendy.Chung@childrens.harvard.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

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info:cnr-pdr/source/autori:Leu, Costin; Stevelink, Remi; Smith, Alexander W.; Goleva, Slavina B.; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L.; Koeleman, Bobby P.C.; Lerche, Holger; Jehi, Lara; Davis, Lea K.; Najm, Imad M.; Palotie, Aarno; Daly, Mark J.; Busch, Robyn M.; Lal, Dennis; Feng, Yen Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Churchhouse, Claire; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Goldstein, David B.; Lowenstein, Daniel H.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Bennett, Caitlin A.; Johns, Esther M.C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; ?terbová, Katalin; Vlcková, Markéta; Sedlácková, Lucie; La??uthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gábor; Elger, Christian E.; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; Van Baalen, Andreas; Von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin/titolo:Polygenic burden in focal and generalized epilepsies/doi:10.1093%2Fbrain%2Fawz292/rivista:Brain (Print)/anno:2019/pagina_da:3473/pagina_a:3481/intervallo_pagine:3473–3481/volume:142
Brain, vol 142, iss 11

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Genet Med

Rockowitz, Shira; LeCompte, Nicholas; Carmack, Mary; Quitadamo, Andrew; Wang, Lily; Park, Meredith; Knight, Devon; Sexton, Emma; Smith, Lacey; Sheidley, Beth; Field, Michael; Holm, Ingrid A.; Brownstein, Catherine A.; Agrawal, Pankaj B.; Kornetsky, Susan; Poduri, Annapurna; Snapper, Scott B.; Beggs, Alan H.; Yu, Timothy W.; Williams, David A.; Sliz, Piotr

npj Genomic Medicine. 5(1)

Weckhuysen S; Ivanovic V; Hendrickx R; Van Coster R; Hjalgrim H; Møller RS; Grønborg S; Schoonjans AS; Ceulemans B; Heavin SB; Eltze C; Horvath R; Casara G; Pisano T; Giordano L; Rostasy K; Haberlandt E; Albrecht B; Bevot A; Benkel I; Syrbe S; Sheidley B; GUERRINI, RENZO; Poduri A; Lemke JR; Mandelstam S; Scheffer I; Angriman M; Striano P; Marini C; Suls A; De Jonghe P; On behalf of the KCNQ2 Study Group

Weckhuysen, S, Ivanovic, V, Hendrickx, R, Van Coster, R, Hjalgrim, H, Moller, R S, Gronborg, S, Schoonjans, A S, Ceulemans, B, Heavin, S B, Eltze, C, Horvath, R, Casara, G, Pisano, T, Giordano, L, Rostasy, K, Haberlandt, E, Albrecht, B, Bevot, A, Benkel, I, Syrbe, S, Sheidley, B, Guerrini, R, Poduri, A, Lemke, J R, Mandelstam, S, Scheffer, I, Angriman, M, Striano, P, Marini, C, Suls, A & De Jonghe, P 2013, ' Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients ', Neurology, vol. 81, no. 19, pp. 1697-1703 . https://doi.org/10.1212/01.wnl.0000435296.72400.a1

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Gaslini' Institute, Genoa, Italy.; Fitch E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Gan J; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.; Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; 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Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. 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Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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EPILEPSIA; NOV 2024, 65 p40-p40, 1p. Supplement: 1

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Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain.; Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.; Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands.; Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany.; Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France.; Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa.; Korf BR; 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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

Brownstein CA; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Goldstein RD; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Division of General Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Thompson CH; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Haynes RL; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Giles E; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Sheidley B; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Bainbridge M; The Genomics Institute, Rady Children's Hospital, San Diego, CA, USA.; Haas EA; Department of Pathology, Rady Children's Hospital-San Diego, San Diego, CA, USA.; Mena OJ; Office of the Medical Examiner, County of San Diego Medical Examiner's Office, San Diego, CA, USA.; Lucas J; Office of the Medical Examiner, County of San Diego Medical Examiner's Office, San Diego, CA, USA.; Schaber B; Office of the Medical Examiner, County of San Diego Medical Examiner's Office, San Diego, CA, USA.; Holm IA; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; George AL; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Kinney HC; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Poduri AH; Robert's Program on Sudden Death in Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Rochtus A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, University of Leuven, Leuven, Belgium.; Olson HE; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Keith LG; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; El Achkar C; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Taylor A; Department of Genomics, Al Jalila Children's Specialty Hospital, Dubai.; Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Park M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Kelly M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Shain C; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Rockowitz S; Information Services Department, Boston Children's Hospital, Boston, Massachusetts.; Rosen Sheidley B; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

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Smith LA; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Ullmann JF; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; 2 F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Olson HE; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; 3 Department of Neurology, Harvard Medical School, Boston, MA, USA.; Achkar CM; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; 3 Department of Neurology, Harvard Medical School, Boston, MA, USA.; Truglio G; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; 2 F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Kelly M; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Rosen-Sheidley B; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Poduri A; 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; 2 F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; 3 Department of Neurology, Harvard Medical School, Boston, MA, USA.

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