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Article

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.

Neurogenetics - 1 Apr 2022

Miyamoto Sachiko, Nakashima Mitsuko, Fukumura Shinobu, Kumada Satoko, Saitsu Hirotomo

Abstract excerpt

GNAO1 variants are associated with a wide range of neurodevelopmental disorders including epileptic encephalopathies and movement disorders. It has been reported that some GNAO1 variants are associated with movement disorders, and the 207-246 amino acid region was proposed as a mutational hotspot. Here, we report an intronic variant (NM_020988.3:c.724-8G>A) in GNAO1 in a Japanese girl who showed mild...

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PMID: 35147852
DOI: 10.1007/s10048-022-00686-5

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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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