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

Child Neurology Open

Inga Talvik¹ 

关键词: early infantile epileptic encephalopathy;    ohtahara syndrome;    GNAO1 mutation;    next generation sequencing gene panel;   

DOI  :  10.1177/2329048X15583717

学科分类：儿科学

来源: Sage Journals

【 摘 要 】

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 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.

【 授权许可】

CC BY-NC