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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-01

AUTHORS

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

ABSTRACT

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 additional four patients with de novo missense GNAO1 variants, one of which was identical to that of the previously reported. All the three novel variants were predicted to impair Gαo function by structural evaluation. Two patients showed early-onset epileptic encephalopathy, presenting with migrating or multifocal partial seizures in their clinical course, but the remaining two patients showed no or a few seizures. All the four patients showed severe intellectual disability, motor developmental delay, and involuntary movements. Progressive cerebral atrophy and thin corpus callosum were common features in brain images. Our study demonstrated that GNAO1 variants can cause involuntary movements and severe developmental delay with/without seizures, including various types of early-onset epileptic encephalopathy. More... »

PAGES

129-134

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2015.92

DOI

http://dx.doi.org/10.1038/ejhg.2015.92

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048521181

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25966631


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