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