Child Neurology Open | |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature | |
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
【 预 览 】
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RO201902028855590ZK.pdf | 1048KB | download |