PubMed 17397049

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav3.1 , Kir2.3

Title: Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.

Authors: Baljinder Singh, Arnaud Monteil, Isabelle Bidaud, Yoshihisa Sugimoto, Toshimitsu Suzuki, Shin-ichiro Hamano, Hirokazu Oguni, Makiko Osawa, Maria E Alonso, Antonio V Delgado-Escueta, Yushi Inoue, Norio Yasui-Furukori, Sunao Kaneko, Philippe Lory, Kazuhiro Yamakawa

Journal, date & volume: Hum. Mutat., 2007 May , 28, 524-5

PubMed link:

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.