title: Novel SCN8A mutation in a girl with refractory seizures and autistic features.
authors.affiliation: Department of Neonatal, Pediatric and Adolescent Medicine, Division of Pediatric Neurology, BL Kapur (BLK) Super, Speciality Hospital, Pusa Road, New Delhi, India; Department of Pediatrics, Epilepsy Services, Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G1H4.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D000069279:Drug Resistant Epilepsy / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009154:Mutation; D062557:NAV1.6 Voltage-Gated Sodium Channel
chemical_list: D062557:NAV1.6 Voltage-Gated Sodium Channel; C100681:SCN8A protein, human