De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy-Reference-Cited by-同舟云学术

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Published:2013-09 Issue:3 Volume:93 Page:496-505
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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4. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy;Saitsu;Nat. Genet.,2008

5. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy;Weckhuysen;Ann. Neurol.,2012

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