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Article

Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

Neurology - 22 Aug 2017

Feng Huijie, Sjögren Benita, Karaj Behirda, Shaw Vincent, Gezer Aysegul, Neubig Richard R

Abstract excerpt

OBJECTIVE: To define molecular mechanisms underlying the clinical spectrum of epilepsy and movement disorder in individuals with de novo mutations in the GNAO1 gene. METHODS: We identified all GNAO1 mutations reported in individuals with epilepsy (early infantile epileptiform encephalopathy 17) or movement disorders through April 2016; 15 de novo mutant alleles from 25 individuals were introduced into the Gαo...

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Identifiers

PMID: 28747448
DOI: 10.1212/WNL.0000000000004262
PMCID: PMC5580866

Genes

GNAO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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