Article
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.
Human mutation - 1 May 2007
Singh Baljinder, Monteil Arnaud, Bidaud Isabelle, Sugimoto Yoshihisa, Suzuki Toshimitsu, Hamano Shin-ichiro, Oguni Hirokazu, Osawa Makiko, Alonso Maria E, Delgado-Escueta Antonio V, Inoue Yushi, Yasui-Furukori Norio, Kaneko Sunao, Lory Philippe, Yamakawa Kazuhiro
Abstract excerpt
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,...
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