Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

ABSTRACT:

Background and purpose

Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children.

Methods

Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced PRRT2, SLC2A1, and MR-1 in these patients and reviewed their medical records.

Results

Forty patients were categorized as PKD, 14

SUBMITTER: Kim SY 

PROVIDER: S-EPMC6172489 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature