progressive myoclonus epilepsy 7

Term ID

DOID:0111447

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. https://www.ncbi.nlm.nih.gov/pubmed/25401298

References

• MIM:616187
• NCI:C142804
• ORDO:435438
• SNOMEDCT_US_2023_03_01:1208939001
• UMLS_CUI:C4015420

Ontology

Human Disease   ( DOID:0111447 )