MCID: EPL094
MIFTS: 24

Epilepsy, Juvenile Myoclonic 5 malady

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

Aliases & Classifications for Epilepsy, Juvenile Myoclonic 5

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Aliases & Descriptions for Epilepsy, Juvenile Myoclonic 5:

Name: Epilepsy, Juvenile Myoclonic 5 49 24
Epilepsy, Childhood Absence, Susceptibility to, 4 11 22 24
Epilepsy, Childhood Absence 4 49 67
Eca4 22 67
Susceptibility to Juvenile Myoclonic Epilepsy 5 67
 
Epilepsy, Idiopathic Generalized 13 67
Juvenile Myoclonic Epilepsy 5 67
Eig13 67
Ejm5 67


Classifications:



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OMIM49 611136

Summaries for Epilepsy, Juvenile Myoclonic 5

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UniProtKB/Swiss-Prot:67 Epilepsy, childhood absence 4: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. Epilepsy, idiopathic generalized 13: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Juvenile myoclonic epilepsy 5: 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.

MalaCards based summary: Epilepsy, Juvenile Myoclonic 5, also known as epilepsy, childhood absence, susceptibility to, 4, is related to myoclonic epilepsy, juvenile 1. An important gene associated with Epilepsy, Juvenile Myoclonic 5 is GABRA1 (Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1). Affiliated tissues include brain.

OMIM:49 Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called... (611136) more...

Related Diseases for Epilepsy, Juvenile Myoclonic 5

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Symptoms for Epilepsy, Juvenile Myoclonic 5

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Clinical features from OMIM:

611136

Drugs & Therapeutics for Epilepsy, Juvenile Myoclonic 5

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Interventional clinical trials:

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

Search NIH Clinical Center for Epilepsy, Juvenile Myoclonic 5

Genetic Tests for Epilepsy, Juvenile Myoclonic 5

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Genetic tests related to Epilepsy, Juvenile Myoclonic 5:

id Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence, Susceptibility to, 422 GABRA1
2 Epilepsy, Juvenile Myoclonic 524
3 Epilepsy, Childhood Absence 424

Anatomical Context for Epilepsy, Juvenile Myoclonic 5

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MalaCards organs/tissues related to Epilepsy, Juvenile Myoclonic 5:

33
Brain

Animal Models for Epilepsy, Juvenile Myoclonic 5 or affiliated genes

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Publications for Epilepsy, Juvenile Myoclonic 5

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Variations for Epilepsy, Juvenile Myoclonic 5

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Juvenile Myoclonic 5:

67
id Symbol AA change Variation ID SNP ID
1GABRA1p.Ala322AspVAR_013642
2GABRA1p.Asp219AsnVAR_071810

Clinvar genetic disease variations for Epilepsy, Juvenile Myoclonic 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GABRA1NC_000005.10insertionrisk factorrs587777363NCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)single nucleotide variantrisk factorrs587777364GRCh38Chr 5, 161882653: 161882653
3GABRA1NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp)single nucleotide variantrisk factorrs121434579GRCh37Chr 5, 161322780: 161322780

Expression for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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Search GEO for disease gene expression data for Epilepsy, Juvenile Myoclonic 5.

Pathways for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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GO Terms for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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Sources for Epilepsy, Juvenile Myoclonic 5

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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