title: Do mutations in SCN1B cause Dravet syndrome?
abstract: A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.
authors.affiliation: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia.
authors.forename: Young Ok
authors.initials: YO
authors.lastname: Kim
authors.forename: Leanne
authors.initials: L
authors.lastname: Dibbens
authors.forename: Carla
authors.initials: C
authors.lastname: Marini
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Nicole
authors.initials: N
authors.lastname: Chemaly
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.forename: Jacinta M
authors.initials: JM
authors.lastname: McMahon
authors.forename: Xenia
authors.initials: X
authors.lastname: Iona
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D062547:Voltage-Gated Sodium Channel beta-1 Subunit / Q000235:genetics*
chemical_list: C470379:SCN1B protein, human; D062547:Voltage-Gated Sodium Channel beta-1 Subunit