P102: Genetic etiology of PRRT2-negative paroxysmal kinesigenic dyskinesia (PKD)*

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Authors: Cecilia Bouska, Laura S. Tochen, Kuntal Sen, Alonso Gonzalo Zea Vera
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Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is a neurological disorder characterized by brief episodes of involuntary movements (dystonia or chorea) with preserved consciousness, typically precipitated by sudden voluntary movement or the intention to move. The most common cause of PKD is heterozygous loss-of-function variants of the gene PRRT2. Episodes in PRRT2-related PKD are brief (

Fields of Study & Subjects

Epilepsy research and treatment Neurological and metabolic disorders Deep Brain Stimulation and Movement Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103596–103596
Publication date
1 January 2026
Language
EN