EJM4
MCID: MYC086
MIFTS: 20

Myoclonic Epilepsy, Juvenile 4 (EJM4)

Categories: Genetic diseases, Metabolic 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 56
Myoclonic Epilepsy, Juvenile, Susceptibility to, 4 56 71
Myoclonic Epilepsy, Juvenile, 4 56 13
Juvenile Myoclonic Epilepsy 4 12 15
Ejm4 56 12

Characteristics:

OMIM:

56
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 56 611364
OMIM Phenotypic Series 56 PS254770
MedGen 41 C1969656
UMLS 71 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, also known as myoclonic epilepsy, juvenile, susceptibility to, 4, is related to epilepsy, myoclonic juvenile, 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:

56
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

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
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
2
A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14. 56
17431681 2007
3
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
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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