Infantile Convulsions and Paroxysmal Choreoathetosis, Familial

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited disorder caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by epileptic seizures and paroxysmal kinesigenic choreoathetosis. It shares features with episodic kinesigenic dyskinesia-1, which is an allelic disorder.

**Synonyms:** - ICCA - ICCA Syndrome - PKD/IC - Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions