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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2015
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| Materias: | |
| 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 |