Ontology highlight
ABSTRACT:
SUBMITTER: Saitsu H
PROVIDER: S-EPMC4795232 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20150513 1
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 ...[more]