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Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

ABSTRACT: Mutations in the guanine nucleotide-binding protein (G protein), ? activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including GNAO1. The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified.

SUBMITTER: Talvik I

PROVIDER: S-EPMC5417033 | biostudies-literature | 2015 Apr-Jun

REPOSITORIES: biostudies-literature

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Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

Talvik Inga I Møller Rikke S RS Vaher Merilin M Vaher Ulvi U Larsen Line Hg LH Dahl Hans A HA Ilves Pilvi P Talvik Tiina T

Child neurology open 20150401 2

Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early ...[more]

PMID: 28503590

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