Video Abstracts

Paroxysmal Kinesigenic Dyskinesia

Authors:

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.

Keywords:

Paroxysmal kinesigenic dyskinesia<i>PRRT2</i>carbamazepine
  • Year: 2017
  • Volume: 7
  • Page/Article: 529
  • DOI: 10.5334/tohm.393
  • Submitted on 6 Nov 2017
  • Accepted on 29 Nov 2017
  • Published on 12 Dec 2017
  • Peer Reviewed