Details of Disease

General Information of Disease (ID: DISMWDTM)

Disease Name Progressive myoclonic epilepsy type 7
Synonyms
epilepsy, progressive myoclonic 7; KCNC1 progressive myoclonic epilepsy; myoclonus epilepsy and ataxia due to potassium channel mutation; progressive myoclonus epilepsy type 7; progressive myoclonic epilepsy caused by mutation in KCNC1; progressive myoclonic epilepsy due to KV3.1 deficiency; PME type 7; epilepsy, progressive myoclonic type 7; EPM7; meak
Definition Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.
Disease Hierarchy
DISAMCNS: Progressive myoclonus epilepsy
DISOJJ2D: Movement disorder
DISMWDTM: Progressive myoclonic epilepsy type 7
Disease Identifiers
MONDO ID
MONDO_0014521
UMLS CUI
C4015420
OMIM ID
616187
MedGen ID
863857
Orphanet ID
435438
SNOMED CT ID
1208939001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNC1 TTVUWHQ moderate CausalMutation [1]
KCNC1 TTVUWHQ Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNC1 OTW9WF1J Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.