Article
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2020
Huang Xiao-Jun, Wang Shi-Ge, Guo Xia-Nan, Tian Wo-Tu, Zhan Fei-Xia, Zhu Ze-Yu, Yin Xiao-Meng, Liu Qing, Yin Kai-Li, Liu Xiao-Rong, Zhang Yu, Liu Zhen-Guo, Liu Xiao-Li, Zheng Lan, Wang Tian, Wu Li, Rong Tian-Yi, Wang Yan, Zhang Mei, Bi Guang-Hui, Tang Wei-Guo, Zhang Chao, Zhong Ping, Wang Chun-Yu, Tang Jian-Guang, Lu Wei, Zhang Ru-Xu, Zhao Guo-Hua, Li Xun-Hua, Li Hua, Chen Tao, Li Hai-Yan, Luo Xiao-Guang, Song Yan-Yan, Tang Hui-Dong, Luan Xing-Hua, Zhou Hai-Yan, Tang Bei-Sha, Chen Sheng-Di, Cao Li
Abstract excerpt
BACKGROUND: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor. OBJECTIVES: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize...
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