| Metadata | |
|---|---|
| ID | DOID:0111447 |
| Name | progressive myoclonus epilepsy 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. https://www.ncbi.nlm.nih.gov/pubmed/25401298 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1208939001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
EPM7 [EXACT] MEAK [EXACT] Myoclonus epilepsy and ataxia due to potassium channel mutation [EXACT] PME type 7 [EXACT] Progressive myoclonic epilepsy due to KV3.1 deficiency [EXACT] Progressive myoclonus epilepsy type 7 [EXACT] |
| Parent Relationships |