| Metadata | |
|---|---|
| ID | DOID:0070442 |
| Name | paroxysmal nonkinesigenic dyskinesia 3 |
| Definition | A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/15937479/, https://pubmed.ncbi.nlm.nih.gov/26195193/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
generalized epilepsy and paroxysmal dyskinesia [EXACT] |
| Parent Relationships |
is_a dystonia |