EJM4
MCID: MYC086
MIFTS: 19

Myoclonic Epilepsy, Juvenile 4 (EJM4)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic Epilepsy, Juvenile 4

MalaCards integrated aliases for Myoclonic Epilepsy, Juvenile 4:

Name: Myoclonic Epilepsy, Juvenile 4 57
Myoclonic Epilepsy, Juvenile, Susceptibility to, 4 57 70
Myoclonic Epilepsy, Juvenile, 4 57 13
Juvenile Myoclonic Epilepsy 4 12 15
Ejm4 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
good response to medication
onset between 9 and 16 years
myoclonic seizures occur on awakening or within 2 hours of awakening


HPO:

31
myoclonic epilepsy, juvenile 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111327
OMIM® 57 611364
OMIM Phenotypic Series 57 PS254770
MedGen 41 C1969656
UMLS 70 C1969656

Summaries for Myoclonic Epilepsy, Juvenile 4

Disease Ontology : 12 A juvenile myoclonic epilepsy that has material basis in variation in a region on chromosome 5q12-q14.

MalaCards based summary : Myoclonic Epilepsy, Juvenile 4, is also known as myoclonic epilepsy, juvenile, susceptibility to, 4, and has symptoms including myoclonic seizures An important gene associated with Myoclonic Epilepsy, Juvenile 4 is EJM4 (Myoclonic Epilepsy, Juvenile, 4). Related phenotypes are eeg with polyspike wave complexes and bilateral tonic-clonic seizure

More information from OMIM: 611364 PS254770

Symptoms & Phenotypes for Myoclonic Epilepsy, Juvenile 4

Human phenotypes related to Myoclonic Epilepsy, Juvenile 4:

31
# Description HPO Frequency HPO Source Accession
1 eeg with polyspike wave complexes 31 very rare (1%) HP:0002392
2 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
3 generalized myoclonic seizure 31 very rare (1%) HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, myoclonic
eeg shows generalized polyspike and wave discharges (4-5 hz)

Clinical features from OMIM®:

611364 (Updated 05-Apr-2021)

UMLS symptoms related to Myoclonic Epilepsy, Juvenile 4:


myoclonic seizures

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 4

Search Clinical Trials , NIH Clinical Center for Myoclonic Epilepsy, Juvenile 4

Genetic Tests for Myoclonic Epilepsy, Juvenile 4

Anatomical Context for Myoclonic Epilepsy, Juvenile 4

Publications for Myoclonic Epilepsy, Juvenile 4

Articles related to Myoclonic Epilepsy, Juvenile 4:

# Title Authors PMID Year
1
A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14. 57
17431681 2007
2
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less. 61
21567930 2011

Variations for Myoclonic Epilepsy, Juvenile 4

Expression for Myoclonic Epilepsy, Juvenile 4

Search GEO for disease gene expression data for Myoclonic Epilepsy, Juvenile 4.

Pathways for Myoclonic Epilepsy, Juvenile 4

GO Terms for Myoclonic Epilepsy, Juvenile 4

Biological processes related to Myoclonic Epilepsy, Juvenile 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.16 MEF2C ADGRV1
2 cellular response to calcium ion GO:0071277 8.96 MEF2C ADGRV1
3 positive regulation of bone mineralization GO:0030501 8.62 MEF2C ADGRV1

Sources for Myoclonic Epilepsy, Juvenile 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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