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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
Authors:Ayelet Zerem  Kazuhiro Haginoya  Dorit Lev  Lubov Blumkin  Sara Kivity  Ilan Linder  Cheryl Shoubridge  Elizabeth Emma Palmer  Michael Field  Jackie Boyle  David Chitayat  William D. Gaillard  Eric H. Kossoff  Marjolaine Willems  David Geneviève  Frederic Tran‐Mau‐Them  Orna Epstein  Eli Heyman  Sarah Dugan  Alice Masurel‐Paulet  Ame'lie Piton  Tjitske Kleefstra  Rolph Pfundt  Ryo Sato  Andreas Tzschach  Naomichi Matsumoto  Hirotomo Saitsu  Esther Leshinsky‐Silver  Tally Lerman‐Sagie
Affiliation:1. Pediatric Neurology Unit, Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel;2. Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan;3. Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv, Israel;4. Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia;5. GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia;6. University of New South Wales, Sydney, New South Wales, Australia;7. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada;8. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital of Sickkids, University of Toronto, Toronto, Ontario, Canada;9. Pediatrics and Neurology, Division Epilepsy and Neurophysiology, Comprehensive Pediatric Epilepsy Program, Center for Neuroscience Research, Children's National Medical Center, George Washington University, Washington, District of Columbia, U.S.A.;10. Departments of Pediatrics and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.;11. Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France;12. Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel;13. Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, U.S.A.;14. Reference Center for Developmental Anomalies and Syndromes, Children's Hospital, CHU Dijon, Dijon, France;15. Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104/INSERM U964/Strasbourg University, Strasbourg, France;16. Genetic Diagnostic Laboratory, University Hospitals of Strasbourg, Strasbourg, France;17. Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands;18. Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany;19. Institute of Clinical Genetics, Technische Universit?t Dresden, Dresden, Germany;20. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Abstract:
Keywords:Epileptic encephalopathy  X‐linked  Intellectual disability  Exome sequencing
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