Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

De novo GNAO1 variants have been found in four patients including three patients with Ohtahara syndrome and one patient with childhood epilepsy. In addition, two patients showed involuntary movements, suggesting that GNAO1 variants can cause various neurological phenotypes. Here we report an additio...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Saitsu, Hirotomo, Fukai, Ryoko, Ben-Zeev, Bruria, Sakai, Yasunari, Mimaki, Masakazu, Okamoto, Nobuhiko, Suzuki, Yasuhiro, Monden, Yukifumi, Saito, Hiroshi, Tziperman, Barak, Torio, Michiko, Akamine, Satoshi, Takahashi, Nagahisa, Osaka, Hitoshi, Yamagata, Takanori, Nakamura, Kazuyuki, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795232/
https://ncbi.nlm.nih.gov/pubmed/25966631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.92
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