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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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
Schlagworte:
Short Report
Online Zugang: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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