Episodic Kinesigenic Dyskinesia-1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder.

**Synonyms:** - DYT10 - Dystonia 10 - EKD1 - PKD Dystonia - Paroxysmal Kinesigenic Dyskinesia