EJM3
MCID: MYC085
MIFTS: 22

Myoclonic Epilepsy, Juvenile 3 (EJM3)

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

Aliases & Classifications for Myoclonic Epilepsy, Juvenile 3

MalaCards integrated aliases for Myoclonic Epilepsy, Juvenile 3:

Name: Myoclonic Epilepsy, Juvenile 3 57 29
Myoclonic Epilepsy, Juvenile, Susceptibility to, 3 57 70
Epilepsy, Juvenile Myoclonic 3 57 13
Juvenile Myoclonic Epilepsy 3 12 15
Ejm3 57 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111326
OMIM® 57 608816
OMIM Phenotypic Series 57 PS254770
UMLS 70 C1837308

Summaries for Myoclonic Epilepsy, Juvenile 3

Disease Ontology : 12 A juvenile myoclonic epilepsy that has material basis in variation in a region on chromosome 6p21.

MalaCards based summary : Myoclonic Epilepsy, Juvenile 3, also known as myoclonic epilepsy, juvenile, susceptibility to, 3, is related to hereditary sensory and autonomic neuropathy type 1 and epilepsy, myoclonic juvenile. An important gene associated with Myoclonic Epilepsy, Juvenile 3 is EJM3 (Epilepsy, Juvenile Myoclonic 3), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway.

More information from OMIM: 608816 PS254770

Symptoms & Phenotypes for Myoclonic Epilepsy, Juvenile 3

Clinical features from OMIM®:

608816 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 3

Search Clinical Trials , NIH Clinical Center for Myoclonic Epilepsy, Juvenile 3

Genetic Tests for Myoclonic Epilepsy, Juvenile 3

Genetic tests related to Myoclonic Epilepsy, Juvenile 3:

# Genetic test Affiliating Genes
1 Myoclonic Epilepsy, Juvenile 3 29

Anatomical Context for Myoclonic Epilepsy, Juvenile 3

Publications for Myoclonic Epilepsy, Juvenile 3

Articles related to Myoclonic Epilepsy, Juvenile 3:

(show all 11)
# Title Authors PMID Year
1
BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. 57
12830434 2003
2
Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. 57
10677311 2000
3
Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. 57
10545395 1999
4
Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6. 57
9305351 1997
5
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1". 57
7654068 1995
6
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. 57
1922810 1991
7
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. 57
1901452 1991
8
Mapping the gene for juvenile myoclonic epilepsy. 57
2570690 1989
9
Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. 57
3146924 1988
10
Large motor unit territories by scanning electromyography in patients with juvenile myoclonic epilepsy. 61
20461011 2010
11
Sudden unexplained death in epilepsy (SUDEP) following previous seizure-related pulmonary oedema: case report and review of possible preventative treatment. 61
12237072 2002

Variations for Myoclonic Epilepsy, Juvenile 3

Expression for Myoclonic Epilepsy, Juvenile 3

Search GEO for disease gene expression data for Myoclonic Epilepsy, Juvenile 3.

Pathways for Myoclonic Epilepsy, Juvenile 3

Pathways related to Myoclonic Epilepsy, Juvenile 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 CERS3 CERS2
2 10.7 CERS3 CERS2

GO Terms for Myoclonic Epilepsy, Juvenile 3

Biological processes related to Myoclonic Epilepsy, Juvenile 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sphingolipid metabolic process GO:0006665 9.16 CERS3 CERS2
2 sphingolipid biosynthetic process GO:0030148 8.96 CERS3 CERS2
3 ceramide biosynthetic process GO:0046513 8.62 CERS3 CERS2

Molecular functions related to Myoclonic Epilepsy, Juvenile 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 N-acyltransferase activity GO:0016410 8.96 CERS3 CERS2
2 sphingosine N-acyltransferase activity GO:0050291 8.62 CERS3 CERS2

Sources for Myoclonic Epilepsy, Juvenile 3

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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