title: Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.
abstract: Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. Severe phenotypes usually result from loss of function mutations, whereas missense mutations cause a milder phenotype by altering the sodium channel activity. We report on a novel missense variant (p.Val1379Leu) in the SCN1A gene segregating in an autosomal dominant pattern in a family exhibiting a variable epilepsy phenotype ranging from generalized epilepsy with febrile seizures during infancy to a well controlled seizure disorder in adulthood. This report supports the importance of SCN1A mutation analysis in families in which seizure disorders segregate in an autosomal dominant fashion.
authors.affiliation: Department of Pediatrics and Child Health and Department of Biochemistry and Medical Genetics, University of Manitoba, Canada. amhanni@hsc.mb.ca
authors.forename: A A
authors.initials: AA
authors.lastname: Mhanni
authors.forename: J N
authors.initials: JN
authors.lastname: Hartley
authors.forename: W G
authors.initials: WG
authors.lastname: Sanger
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
authors.forename: E L
authors.initials: EL
authors.lastname: Spriggs
mesh_terms: D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics*; D010375:Pedigree; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics; D015222:Sodium Channels / Q000096:biosynthesis / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D007930:Leucine; D014633:Valine