Term Name: | episodic kinesigenic dyskinesia 1 |
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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 ) |