MCID: MYC070
MIFTS: 22

Myoclonic Epilepsy, Juvenile 1 malady

Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Myoclonic Epilepsy, Juvenile 1

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Aliases & Descriptions for Myoclonic Epilepsy, Juvenile 1:

Name: Myoclonic Epilepsy, Juvenile 1 49
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 11
Susceptibility to Juvenile Myoclonic Epilepsy 1 67
Juvenile Myoclonic Epilepsy 1 67
 
Petit Mal Impulsive 67
Janz Syndrome 67
Ejm1 67
Jme 67


Classifications:



External Ids:

OMIM49 254770
MeSH36 D020190

Summaries for Myoclonic Epilepsy, Juvenile 1

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OMIM:49 Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of... (254770) more...

MalaCards based summary: Myoclonic Epilepsy, Juvenile 1, also known as myoclonic epilepsy, juvenile, susceptibility to, 1, is related to epilepsy, generalized, with febrile seizures plus, type 5 and epilepsy, idiopathic generalized 9, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and generalized tonic-clonic seizures. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-Hand Domain (C-Terminal) Containing 1).

UniProtKB/Swiss-Prot:67 Juvenile myoclonic epilepsy 1: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

Related Diseases for Myoclonic Epilepsy, Juvenile 1

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Symptoms for Myoclonic Epilepsy, Juvenile 1

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Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770

HPO human phenotypes related to Myoclonic Epilepsy, Juvenile 1:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 generalized tonic-clonic seizures HP:0002069
4 absence seizures HP:0002121
5 status epilepticus HP:0002133
6 morning myoclonic jerks HP:0007000
7 eeg with generalized polyspikes HP:0012001

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Physical Exercise in Subjects With Juvenile Myoclonic EpilepsyRecruitingNCT01450423Phase 2

Search NIH Clinical Center for Myoclonic Epilepsy, Juvenile 1

Genetic Tests for Myoclonic Epilepsy, Juvenile 1

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Anatomical Context for Myoclonic Epilepsy, Juvenile 1

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Animal Models for Myoclonic Epilepsy, Juvenile 1 or affiliated genes

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Publications for Myoclonic Epilepsy, Juvenile 1

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Variations for Myoclonic Epilepsy, Juvenile 1

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UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy, Juvenile 1:

67
id Symbol AA change Variation ID SNP ID
1EFHC1p.Pro77ThrVAR_023619rs149055334
2EFHC1p.Asp210AsnVAR_023622
3EFHC1p.Arg221HisVAR_023623rs79761183
4EFHC1p.Asp253TyrVAR_023625
5EFHC1p.Arg353TrpVAR_043157
6EFHC1p.Arg118CysVAR_072108

Expression for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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Search GEO for disease gene expression data for Myoclonic Epilepsy, Juvenile 1.

Pathways for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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GO Terms for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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Sources for Myoclonic Epilepsy, Juvenile 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet