De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu(Yokohama City University), Mitsuhiro Kato(Yamagata University), Takeshi Mizuguchi(Yokohama City University), Keisuke Hamada(Yokohama City University), Hitoshi Osaka(Kanagawa Children's Medical Center), Jun Tohyama(Nishi Niigata Chuo National Hospital), Katsuhisa Uruno(Saigata National Hospital), Satoko Kumada(Tokyo Metropolitan Neurological Hospital), Kiyomi Nishiyama(Yokohama City University), Akira Nishimura(Yokohama City University), Ippei Okada(Yokohama City University), Yukiko Yoshimura(Yokohama City University), Syu-ichi Hirai(Yokohama City University), Tatsuro Kumada(Hamamatsu University School of Medicine), Kiyoshi Hayasaka(Yamagata University), Atsuo Fukuda(Hamamatsu University School of Medicine), Kazuhiro Ogata(Yokohama City University), Naomichi Matsumoto(Yokohama City University)
Nature Genetics
May 11, 2008
Cited by 545

Abstract


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