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Article

A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.

Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2020

Zhang Guohui, Gibson Rebecca A, McDonald Marie, Liang Pengfei, Kang Po Wei, Shi Jingyi, Yang Huanghe, Cui Jianmin, Mikati Mohamad A

Abstract excerpt

BACKGROUND: The mutations of KCNMA1 BK-type K+ channel have been identified in patients with various movement disorders. The underlying pathophysiology and corresponding therapeutics are lacking. OBJECTIVES: To report our clinical and biophysical characterizations of a novel de novo KCNMA1 variant, as well as an effective therapy for the patient's dystonia-atonia spells. METHODS: Combination of phenotypic...

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PMID: 32633875
DOI: 10.1002/mds.28138
PMCID: PMC7572833

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