title: Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.
abstract: Recent studies have strongly implicated low voltage-activated/T-type calcium channels (T-channels) in the etiology of epilepsy. Here, we report the results of a mutational analysis of the CACNA1G gene, encoding the T-channel Ca(V)3.1/(1G) subunit, using a cohort of 123 mostly Japanese and Hispanic patients with idiopathic generalized epilepsies (IGE) and 360 healthy control individuals. We found 13 variants, including five which involved amino acid substitutions. One variant, c.1709C>T (Ala570Val), is present in a sporadic case of juvenile myoclonic epilepsy (JME) with early childhood absence and astatic seizures, but was not found in control samples. Another variant, c.3265G>T (Ala1089Ser), was observed in three family members affected with JME, and also in one control individual. Two JME patients and three control individuals harbored a third variant, c.2968G>A (Asp980Asn). Although not statistically significant, slightly faster inactivation decay rates were observed in some mutant channels. Our collective findings flag CACNA1G as a potential susceptibility locus for IGE subsyndromes that warrants closer investigation.
authors.affiliation: Laboratory for Neurogenetics, RIKEN Brain Science Institute, Saitama, Japan.
authors.forename: Baljinder
authors.initials: B
authors.lastname: Singh
authors.forename: Arnaud
authors.initials: A
authors.lastname: Monteil
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bidaud
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Sugimoto
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shin-ichiro
authors.initials: S
authors.lastname: Hamano
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Maria E
authors.initials: ME
authors.lastname: Alonso
authors.forename: Antonio V
authors.initials: AV
authors.lastname: Delgado-Escueta
authors.forename: Yushi
authors.initials: Y
authors.lastname: Inoue
authors.forename: Norio
authors.initials: N
authors.lastname: Yasui-Furukori
authors.forename: Sunao
authors.initials: S
authors.lastname: Kaneko
authors.forename: Philippe
authors.initials: P
authors.lastname: Lory
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamakawa
mesh_terms: D020747:Calcium Channels, T-Type; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: C121855:CACNA1G protein, human; D020747:Calcium Channels, T-Type