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Article

A case of severe movement disorder with GNAO1 mutation responsive to topiramate.

Brain & development - 1 May 2017

Sakamoto Saori, Monden Yukifumi, Fukai Ryoko, Miyake Noriko, Saito Hiroshi, Miyauchi Akihiko, Matsumoto Ayumi, Nagashima Masako, Osaka Hitoshi, Matsumoto Naomichi, Yamagata Takanori

Abstract excerpt

We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy...

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Source

Identifiers

PMID: 27916449
DOI: 10.1016/j.braindev.2016.11.009

Genes

GNAO1

Provenance

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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