Article
PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.
CNS neuroscience & therapeutics - 1 Jan 2013
Li Hong-Fu, Ni Wang, Xiong Zhi-Qi, Xu Jianfeng, Wu Zhi-Ying
Abstract excerpt
AIMS: PRRT2 was recently identified as a causative gene for paroxysmal kinesigenic dyskinesia (PKD), and the c.649dupC mutation was shown to be a "high frequency" mutation. This mutation was also identified in many sporadic cases. This might be attributed to the incomplete penetrance of c.649dupC. Alternatively, c.649dupC might derive from de novo. The aim of this study is to elucidate the possibility concerning...
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