Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single‐Center Study and Literature Review

ABSTRACT Paroxysmal kinesigenic dyskinesia (PKD) is a genetically heterogeneous movement disorder primarily associated with PRRT2 variants. Recently, TMEM151A and KCNJ10 have emerged as additional PKD‐associated genes. However, genotype–phenotype correlations remain poorly defined. In this study, we retrospectively analyzed 41 PKD patients from a single center in Southeastern China. All patients underwent comprehensive clinical evaluation and whole‐exome sequencing (WES), with variant classification based on ACMG guidelines. Additionally, we conducted a literature review of PKD cohorts published since 2021 to compare the clinical characteristics of patients carrying PRRT2 , TMEM151A , KCNJ10 variants, and those without identified mutations. A genetic diagnosis was achieved in 19/41 patients (46.3%), with PRRT2 being the most frequent. We identified five novel variants, including two in KCNJ10, two in TMEM151A , and one in PNKD . Compared to other groups, PRRT2 ‐positive patients had the earliest onset and highest treatment response. TMEM151A ‐positive patients tended to exhibit more frequent attacks and a lower response to carbamazepine. KCNJ10 ‐positive patients presented with later onset and ultra‐brief attacks. Genetically negative cases displayed distinct features, including fewer auras and more unilateral, ultra‐brief episodes, yet responded well to carbamazepine. PKD exhibits significant genotype‐dependent clinical heterogeneity. Novel variants in TMEM151A and KCNJ10 expand the mutational spectrum and suggest emerging genotype‐specific phenotypic trends. Systematic genetic and phenotypic profiling may guide more precise diagnosis and management of PKD.