Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia

Background: ) are the most common genetic cause of PKD. Objective: The objective was to investigate the clinical and genetic characteristics of PKD and to establish genotype-phenotype correlations. Methods: variants. Genotype-phenotype correlation analyses were conducted on the probands. Results: ) variants including a novel variant (c.368G>C) and a reported variant (c.203C>T) in two PRRT2-negative probands with PKD. Conclusion: variants. Carbamazepine and oxcarbazepine are both used as a first-line treatment choice for PKD patients.