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...

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Detalles Bibliográficos
Autores principales: Talvik, Inga, Møller, Rikke S., Vaher, Merilin, Vaher, Ulvi, Larsen, Line HG, Dahl, Hans A., Ilves, Pilvi, Talvik, Tiina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417033/
https://www.ncbi.nlm.nih.gov/pubmed/28503590
http://dx.doi.org/10.1177/2329048X15583717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417033/
https://www.ncbi.nlm.nih.gov/pubmed/28503590
http://dx.doi.org/10.1177/2329048X15583717

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