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Paroxysmal Kinesigenic Dyskinesia Cover
Open Access
|Dec 2017

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.

DOI: https://doi.org/10.5334/tohm.393 | Journal eISSN: 2160-8288
Language: English
Submitted on: Nov 6, 2017
Accepted on: Nov 29, 2017
Published on: Dec 12, 2017
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2017 Martin Paucar, Helena Malmgren, Per Svenningsson, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.