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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

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作者单位: The Danish Epilepsy Centre, Member of the ERN EpiCARE [1] Université C?te d’Azur [2] Institute of Health and Wellbeing, University of Glasgow [3] Cologne Center for Genomics, University of Cologne [4] Pediatric Neurology Department, CIBERER-ISCIII, Sant Joan de Déu Universitary Hospital, Institut de [5] Pediatric Neurology Department, Kuopio University Hospital, Member of the ERN EpiCARE [6] Department of Paediatric Clinical Epileptology, sleep disorders and functional neurology, Member of [7] ‘Iuliu Hatieganu’ University of Medicine and Pharmacy, Faculty of Medicine, Department of [8] The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE [9] Indiana University School of Medicine, IU Health Riley Hospital for Children, Department of [10] Louisiana State University Health Sciences Center School of Medicine [11] Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children [12] Department of Medical Genetics, Lyon University Hospital, Member of the ERN EpiCARE [13] Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health [14] Pediatric Neurology Department, 12 Octubre Universitary Hospital [15] Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana [16] Jane and John Justin Neurosciences Center, Cook Children’s Medical Center [17] Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary [18] Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health [19] Baylor College of Medicine [20] Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University [21] Children’s Clinic of Tartu University Hospital, Faculty of Medicine of Tartu University, Member of [22] Birmingham Children’s Hospital [23] West Midlands Regional Genetics Service, Birmingham Women’s and Children’s Hospital [24] Division of Neurology, SickKids, University of Toronto [25] Divisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic [26]
发布时间 2023-02-11
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Brain: A journal of neurology

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