label: Infantile Convulsions and Paroxysmal Choreoathetosis, Familial
label_lc: infantile convulsions and paroxysmal choreoathetosis, familial
description: "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."