title: Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
abstract: Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS(+) ) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS(+) families could be explained by highly penetrant SCN9A mutations.
authors.affiliation: Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.
authors.forename: John C
authors.initials: JC
authors.lastname: Mulley
authors.forename: Bree
authors.initials: B
authors.lastname: Hodgson
authors.forename: Jacinta M
authors.initials: JM
authors.lastname: McMahon
authors.forename: Xenia
authors.initials: X
authors.lastname: Iona
authors.forename: Susannah
authors.initials: S
authors.lastname: Bellows
authors.forename: Saul A
authors.initials: SA
authors.lastname: Mullen
authors.forename: Kevin
authors.initials: K
authors.lastname: Farrell
authors.forename: Mark
authors.initials: M
authors.lastname: Mackay
authors.forename: Lynette
authors.initials: L
authors.lastname: Sadleir
authors.forename: Andrew
authors.initials: A
authors.lastname: Bleasel
authors.forename: Deepak
authors.initials: D
authors.lastname: Gill
authors.forename: Richard
authors.initials: R
authors.lastname: Webster
authors.forename: Elaine C
authors.initials: EC
authors.lastname: Wirrell
authors.forename: Michael
authors.initials: M
authors.lastname: Harbord
authors.forename: Sanyjay
authors.initials: S
authors.lastname: Sisodiya
authors.forename: Eva
authors.initials: E
authors.lastname: Andermann
authors.forename: Sara
authors.initials: S
authors.lastname: Kivity
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Leanne M
authors.initials: LM
authors.lastname: Dibbens
mesh_terms: D004831:Epilepsies, Myoclonic / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics*; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels
keywords: Clinical heterogeneity; Dravet syndrome; Febrile seizures; Genetic epilepsy with febrile seizures plus; Genetic modifier; Genetic susceptibility; SCN1A; SCN9A; Susceptibility gene