Articles with "prrt2 variants" as a keyword



Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia

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Published in 2024 at "Therapeutic Advances in Neurological Disorders"

DOI: 10.1177/17562864231224110

Abstract: Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder, characterized by attacks of involuntary movements triggered by sudden action. Variants in proline-rich transmembrane protein 2 (PRRT2) are the most common genetic cause of PKD.… read more here.

Keywords: paroxysmal kinesigenic; pkd patients; prrt2 variants; pkd ... See more keywords