MCID: MYC086
MIFTS: 17

Myoclonic Epilepsy, Juvenile 4

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic 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 73
Myoclonic Epilepsy, Juvenile, 4 57 13
Ejm4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
myoclonic epilepsy, juvenile 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611364
MedGen 42 C1969656
UMLS 73 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 has symptoms including myoclonic seizures An important gene associated with Myoclonic Epilepsy, Juvenile 4 is EJM4 (Myoclonic Epilepsy, Juvenile, 4). Related phenotypes are generalized tonic-clonic seizures and generalized myoclonic seizures

Description from OMIM: 611364

Related Diseases for Myoclonic Epilepsy, Juvenile 4

Symptoms & Phenotypes for Myoclonic Epilepsy, Juvenile 4

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

611364

Human phenotypes related to Myoclonic Epilepsy, Juvenile 4:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 generalized myoclonic seizures 32 HP:0002123

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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