PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Abstract excerpt

BACKGROUND: Mutations in the PRRT2 gene have recently been identified in patients with familial paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency and identities of PRRT2 mutations in a cohort of Taiwanese patients with PKD/IC. METHODOLOGY AND PRINCIPAL FINDINGS:...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Diet and metabolism studies
• Share to Epilepsy research and treatment
• Share to Glycogen Storage Diseases and Myoclonus