Article
Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
Neurology - 3 Nov 2015
Huang Xiao-Jun, Wang Tian, Wang Jun-Ling, Liu Xiao-Li, Che Xiang-Qian, Li Jin, Mao Xiao, Zhang Mei, Bi Guang-Hui, Wu Li, Zhang Yu, Wang Jing-Yi, Shen Jun-Yi, Tang Bei-Sha, Cao Li, Chen Sheng-Di
Abstract excerpt
OBJECTIVE: We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype-phenotype correlation of PKD. METHODS: We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations. RESULTS: Among the enrolled participants...
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