Article
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
American journal of human genetics - 5 Sept 2013
Nakamura Kazuyuki, Kodera Hirofumi, Akita Tenpei, Shiina Masaaki, Kato Mitsuhiro, Hoshino Hideki, Terashima Hiroshi, Osaka Hitoshi, Nakamura Shinichi, Tohyama Jun, Kumada Tatsuro, Furukawa Tomonori, Iwata Satomi, Shiihara Takashi, Kubota Masaya, Miyatake Satoko, Koshimizu Eriko, Nishiyama Kiyomi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Hayasaka Kiyoshi, Ogata Kazuhiro, Fukuda Atsuo, Matsumoto Naomichi, Saitsu Hirotomo
Abstract excerpt
Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. Two of the affected...
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