Article
Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.
Neuroscience bulletin - 1 Jul 2024
Xu Jiao-Jiao, Li Hong-Fu, Wu Zhi-Ying
Abstract excerpt
Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorder, is characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary movements. PKD is mainly caused by mutations in the PRRT2 or TMEM151A gene. The exact pathophysiological mechanisms of PKD remain unclear, although the function of PRRT2 protein has been well characterized in the...
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