The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

Qing Ke,Fangping He,Lingping Lu,Ping Yu,Yajian Jiang,Chen Weng,Hui Huang,Xin Yi,M Qi

Neuromuscular Disorders（2015）

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摘要

•We found the CACNA1S R900S mutation in hypokalemic periodic paralysis (hypoPP).•Whole-exome next-generation sequencing is an alternative method for hypoPP.•Patients with CACNA1S R900S mutation were non-responsive to acetazolamide.•CACNA1S R900S mutation carriers have different penetrance in males and females.

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关键词

CACNA1S,Hypokalemic periodic paralysis,Muscle channelopathy,R900S mutation

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