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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Short Report
Online adgang: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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