Term Name: | progressive myoclonus epilepsy 7 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111447] ( DOID:0111447 ) |