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MIRAGE
paroxysmal nonkinesigenic dyskinesia 3
Summary
- Synonym
-
- generalized epilepsy and paroxysmal dyskinesia
- 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.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0070442
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12791 | Calcium-activated potassium channel subunit alpha-1 |
