Video Abstracts
Paroxysmal Kinesigenic Dyskinesia
Authors:
- Martin PaucarEmail Martin Paucar
- Helena Malmgren
- Per Svenningsson
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.
- 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