EPM7
MCID: PRG143
MIFTS: 11

Progressive Myoclonus Epilepsy 7 (EPM7)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy 7

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 7:

Name: Progressive Myoclonus Epilepsy 7 12
Myoclonus Epilepsy and Ataxia Due to Potassium Channel Mutation 12
Progressive Myoclonic Epilepsy Due to Kv3.1 Deficiency 12
Progressive Myoclonus Epilepsy Type 7 12
Pme Type 7 12
Epm7 12
Meak 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111447
UMLS 71 C4015420

Summaries for Progressive Myoclonus Epilepsy 7

Disease Ontology : 12 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 KCNC1 on chromosome 11p15.1.

MalaCards based summary : Progressive Myoclonus Epilepsy 7, also known as myoclonus epilepsy and ataxia due to potassium channel mutation, is related to epilepsy, progressive myoclonic 7 and ataxia and polyneuropathy, adult-onset.

Related Diseases for Progressive Myoclonus Epilepsy 7

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 7:



Diseases related to Progressive Myoclonus Epilepsy 7

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 7

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 7

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 7

Genetic Tests for Progressive Myoclonus Epilepsy 7

Anatomical Context for Progressive Myoclonus Epilepsy 7

Publications for Progressive Myoclonus Epilepsy 7

Articles related to Progressive Myoclonus Epilepsy 7:

# Title Authors PMID Year
1
Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. 61
29428275 2018
2
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. 61
28380698 2017
3
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. 61
27629860 2016

Variations for Progressive Myoclonus Epilepsy 7

Expression for Progressive Myoclonus Epilepsy 7

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 7.

Pathways for Progressive Myoclonus Epilepsy 7

GO Terms for Progressive Myoclonus Epilepsy 7

Sources for Progressive Myoclonus Epilepsy 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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