episodic kinesigenic dyskinesia 1 (DOID:0090053)
Alliance: disease page
Synonyms: Paroxysmal kinesigenic choreoathetosis
Alt IDs: OMIM:128200, ICD10CM:G24.8, ORDO:98809
Definition: A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.