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

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.

Objective

The objective was to investigate the clinical and genetic characteristics of PKD and to establish genotype-phenotype correlations.

Methods

We enrolled 219 PKD patients, documented their clinical information and performed PRRT2 screening using Sanger sequencing. Whole exome sequencing was performed on 49 PKD probands without PRRT2 variants. Genotype-phenotype correlation analyses were conducted on the probands.

Results

Among 219 PKD patients (99 cases from 39 families and 120

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC10798112 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature