| Metadata | |
|---|---|
| ID | DOID:0090053 |
| Name | episodic kinesigenic dyskinesia 1 |
| 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. https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia, https://www.omim.org/entry/128200 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Paroxysmal kinesigenic choreoathetosis [EXACT] |
| Parent Relationships |
is_a dystonia |