Paroxysmal hypnogenic dyskinesia is associated with mutations in the <i>PRRT2</i> gene

Abstract

The present study identified PRRT2 mutations in PHD, extending the phenotypic spectrum of PRRT2 and supporting the classification of PHD as a subtype of paroxysmal dyskinesia but not NFLE. Based on the results of this study, screening for the PRRT2 mutation is recommended in patients with PHD.