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Article

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

Journal of child neurology - 1 Feb 2016

Kulkarni Neil, Tang Sha, Bhardwaj Ratan, Bernes Saunder, Grebe Theresa A

Abstract excerpt

GNAO1, located on chromosome 16q12.2, encodes for 1 of the heterotrimeric guanine binding proteins subunits (G proteins), specifically Gαo, which has been implicated as having an important role in brain function. GNAO1 mutations have been shown to impart oncogene properties as well as cause epileptic encephalopathy. The authors report 2 cases of brothers with a severe movement disorder and hypotonia without...

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Source

Identifiers

PMID: 26060304
DOI: 10.1177/0883073815587945

Genes

GNAO1

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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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