Article
Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.
Scientific reports - 13 May 2016
Liu Ding, Zhang Yumiao, Wang Yu, Chen Chanjuan, Li Xin, Zhou Jinxia, Song Zhi, Xiao Bo, Rasco Kevin, Zhang Feng, Wen Shu, Li Guoliang
Abstract excerpt
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements. It can be sporadic or familial. Proline-Rich Transmembrane Protein 2 (PRRT2) has been shown to be a common causative gene of PKD. However, less than 50% of patients with primary PKD harbor mutations in PRRT2. The aim of this study is to use eight families with PKD to...
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