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

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 w...

Full description

Saved in:
Bibliographic Details
Published in:Child Neurol Open
Main Authors: Talvik, Inga, Møller, Rikke S., Vaher, Merilin, Vaher, Ulvi, Larsen, Line HG, Dahl, Hans A., Ilves, Pilvi, Talvik, Tiina
Format: Artigo
Language:Inglês
Published: SAGE Publications 2015
Subjects:
Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5417033/
https://ncbi.nlm.nih.gov/pubmed/28503590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X15583717
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items