Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis (ICCA)

Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis, also known as infantile convulsions and choreoathetosis, is related to episodic kinesigenic dyskinesia 1 and seizures, benign familial infantile, 2, and has symptoms including ataxia, athetosis and dystonia. An important gene associated with Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways is 16p11.2 proximal deletion syndrome. The drugs Tetrabenazine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are normal interictal eeg and seizure