Term Name: episodic kinesigenic dyskinesia 1
Synonyms: Paroxysmal kinesigenic choreoathetosis
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.
Ontology: Human Disease [DOID:0090053]   ( DOID:0090053 )

Relationships
is a type of: autosomal dominant disease dystonia