Paroxysmal Kinesigenic Dyskinesia. (12th December 2017)

• Record Type: Journal Article
• Authors: Paucar, Martin; Malmgren, Helena; Svenningsson, Per
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 7(2017)
• Publication Date: 2017-12-12
• Subjects: Paroxysmal kinesigenic dyskinesia -- PRRT2 -- carbamazepine; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D8R79N2F
• Languages: English
• ISSNs: 2160-8288

Abstract

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline‐rich transmembrane protein 2 ( PRRT2 ) gene. Phenomenology Shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome. Educational Value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.