Article
Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Annals of clinical and translational neurology - 1 Dec 2025
Xu Jiao-Jiao, Chen Yu-Lan, Sun Wan-Bing, Li Hong-Fu, Wu Zhi-Ying, Chen Dian-Fu
Abstract excerpt
OBJECTIVE: Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. METHODS: Patients with clinically suspected PKD and no detectable pathogenic variants in the PRRT2 gene were included....
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