Objective: To analyse and investigate the clinical features, genes and therapy of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD) and paroxysmal exercise-induced dyskinesia (PED).

Method: The phenotypes of eight sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) were analyzed. Genomic DNA was extracted from peripheral blood lymphocytes of five patients. The coding regions and flanking introns of the PRRT2, MR1 and SLC2A1 genes were screening for mutations using PCR and direct DNA sequencing or array-based Comparitive Genomic Hybridization (aCGH). The clinical manifestations, clinical courses , investigations, treatments and outcomes of paroxysmal kinesigenic dyskinesia patients were analyzed.

Results: In eight PD patients there were four PKD patients, two PNKD patients and two PED patients. No mutations were identified in five PD patients. Two PKD patients who had tried oxcarbazepine had a favorable response and one responded well to clonazepam. A case of PNKD responded well to clonazepam. A case of PED responded well to ketogenic diet.

Conclusion: This study reported evidence of both clinical and genetic heterogeneity in PD. The choice of specific treatment should be based on different phenotype