Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.
Clinical Neurology and Neurosurgery（2017）
摘要
•Summarized the clinical characteristics of Chinese sporadic patients with PKD.•Identified two variants PRRT2c.412C>G and PRRT2c.439G>C in Chinese sporadic PKD patients.•Indicated the detection of PRRT2 c.649dupC mutation should be given priority in Chinese sporadic patients with PKD.
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关键词
PRRT2,Paroxysmal kinesigenic dyskinesia,China
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