Article
Paroxysmal Kinesigenic Dyskinesia.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2017
Paucar Martin, Malmgren Helena, Svenningsson Per
Abstract excerpt
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.
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