Article
PRRT2 mutation in Japanese children with benign infantile epilepsy.
Brain & development - 1 Aug 2013
Okumura Akihisa, Shimojima Keiko, Kubota Tetsuo, Abe Shinpei, Yamashita Shintaro, Imai Katsumi, Okanishi Tohru, Enoki Hideo, Fukasawa Tatsuya, Tanabe Takuya, Dibbens Leanne M, Shimizu Toshiaki, Yamamoto Toshiyuki
Abstract excerpt
Mutations in PRRT2 genes have been identified as a major cause of benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. We explored mutations in PRRT2 in Japanese patients with BIE as well as its related conditions including convulsion with mild gastroenteritis and benign early infantile epilepsy. We explored PRRT2 mutations in Japanese children who had had unprovoked infantile seizures or...
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