Clinical Phenotype of De Novo Mutation

Clinical Phenotype of De Novo Mutation

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...

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Main Authors: Inga Talvik MD, PhD, Rikke S. Møller MSc, PhD, Merilin Vaher MD, Ulvi Vaher MD, Line HG Larsen MSc, Hans A. Dahl MSc, PhD, Pilvi Ilves MD, PhD, Tiina Talvik MD, PhD
Format: Article
Language:English
Published: SAGE Publishing 2015-04-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X15583717

Internet

https://doi.org/10.1177/2329048X15583717

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