A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16‐Amino‐Acid Protein Causes Self‐inducible Paroxysmal Kinesigenic Dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD, OMIM 128000) is a sporadic or autosomal-dominant hereditary disorder characterized by brief recurrent attacks of involuntary movements triggered by sudden voluntary movement.1 This disorder generally develops during childhood and adolescence and is typically treated with carbamazepine (CBZ).2,3 This article is protected by copyright. All rights reserved.