EJM4
MCID: MYC086
MIFTS: 17

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 58
Myoclonic Epilepsy, Juvenile, Susceptibility to, 4 58 74
Myoclonic Epilepsy, Juvenile, 4 58 13
Ejm4 58

Characteristics:

OMIM:

58
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:

33
myoclonic epilepsy, juvenile 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 611364
MedGen 43 C1969656
UMLS 74 C1969656

Summaries for Myoclonic Epilepsy, Juvenile 4

MalaCards based summary : Myoclonic Epilepsy, Juvenile 4, also known as myoclonic epilepsy, juvenile, susceptibility to, 4, is related to epilepsy, myoclonic juvenile and cone-rod dystrophy and hearing loss 2, and has symptoms including myoclonic seizures An important gene associated with Myoclonic Epilepsy, Juvenile 4 is EJM4 (Myoclonic Epilepsy, Juvenile, 4). Related phenotypes are generalized myoclonic seizures and generalized tonic-clonic seizures

Description from OMIM: 611364

Symptoms & Phenotypes for Myoclonic Epilepsy, Juvenile 4

Human phenotypes related to Myoclonic Epilepsy, Juvenile 4:

33
# Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 33 very rare (1%) HP:0002123
2 generalized tonic-clonic seizures 33 very rare (1%) HP:0002069
3 eeg with polyspike wave complexes 33 very rare (1%) HP:0002392

Symptoms via clinical synopsis from OMIM:

58
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

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

Sources for Myoclonic Epilepsy, Juvenile 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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