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Article

GNAO1 mutation-related severe involuntary movements treated with gabapentin.

Brain & development - 1 Apr 2021

Akasaka Manami, Kamei Atsushi, Tanifuji Sachiko, Asami Maya, Ito Jun, Mizuma Kanako, Oyama Kotaro, Tokutomi Tomoharu, Yamamoto Kayono, Fukushima Akimune, Takenouchi Toshiki, Uehara Tomoko, Suzuki Hisato, Kosaki Kenjiro

Abstract excerpt

BACKGROUND: Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators. CASE: The patient visited our hospital at age 2 years because of moderate global developmental delay. Her intermittent, generalized involuntary movements started at age 8 years. A de novo GNAO1 mutation, NM_020988.2:c.626G > A, (p.Arg209Cys), was...

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Identifiers

PMID: 33358199
DOI: 10.1016/j.braindev.2020.12.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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