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progressive myoclonus epilepsy 7
Summary
- Synonym
-
- EPM7
- MEAK
- Myoclonus epilepsy and ataxia due to potassium channel mutation
- PME type 7
- Progressive myoclonic epilepsy due to KV3.1 deficiency
- Progressive myoclonus epilepsy type 7
- Definition
- A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
- Super Class
- autosomal dominant disease progressive myoclonus epilepsy
External Links
- Disease Ontology
- DOID:0111447
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
