Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
Child Neurol Open
; 2(2): 2329048X15583717, 2015.
Article
em En
| MEDLINE
| ID: mdl-28503590
ABSTRACT
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.
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Base de dados:
MEDLINE
Idioma:
En
Revista:
Child Neurol Open
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Estônia