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Disease Ontology Browser
progressive myoclonus epilepsy 7 (DOID:0111447)
Alliance: disease page
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
Alt IDs: OMIM:616187, NCI:C142804, ORDO:435438, UMLS_CUI:C4015420
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory