Episodic Kinesigenic Dyskinesia 1 (EKD1)

Episodic Kinesigenic Dyskinesia 1, also known as paroxysmal kinesigenic choreoathetosis, is related to convulsions, familial infantile, with paroxysmal choreoathetosis and seizures, benign familial infantile, 2, and has symptoms including dystonia and dystonia, paroxysmal. An important gene associated with Episodic Kinesigenic Dyskinesia 1 is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain and globus pallidus, and related phenotypes are chorea and dyskinesia