Article
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Human molecular genetics - 15 Feb 2018
Yin Xiao-Meng, Lin Jing-Han, Cao Li, Zhang Tong-Mei, Zeng Sheng, Zhang Kai-Lin, Tian Wo-Tu, Hu Zheng-Mao, Li Nan, Wang Jun-Ling, Guo Ji-Feng, Wang Ruo-Xi, Xia Kun, Zhang Zhuo-Hua, Yin Fei, Peng Jing, Liao Wei-Ping, Yi Yong-Hong, Liu Jing-Yu, Yang Zhi-Xian, Chen Zhong, Mao Xiao, Yan Xin-Xiang, Jiang Hong, Shen Lu, Chen Sheng-Di, Zhang Li-Ming, Tang Bei-Sha
Abstract excerpt
Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it is only responsible for approximately half of affected individuals, indicating that other loci are most likely involved in the etiology of this disorder. To explore the underlying causative...
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