MCID: EPL094
MIFTS: 18

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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Epilepsy, Juvenile Myoclonic 5, Aliases & Descriptions:

Name: Epilepsy, Juvenile Myoclonic 5 45 22
Epilepsy, Childhood Absence, Susceptibility to, 4 10 20 22
 
Epilepsy, Idiopathic Generalized 13 45
Epilepsy, Childhood Absence 4 45


Classifications:



External Ids:

OMIM45 611136

Summaries for Epilepsy, Juvenile Myoclonic 5

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OMIM:45 Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called... (611136) more...

MalaCards based summary: Epilepsy, Juvenile Myoclonic 5, is also known as epilepsy, childhood absence, susceptibility to, 4 An important gene associated with Epilepsy, Juvenile Myoclonic 5 is GABRA1 (gamma-aminobutyric acid (GABA) A receptor, alpha 1).

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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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Juvenile Myoclonic 5

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, 420 GABRA1
2 Epilepsy, Juvenile Myoclonic 522
3 Epilepsy, Childhood Absence 422

Anatomical Context for Epilepsy, Juvenile Myoclonic 5

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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:

62
id Symbol AA change Variation ID SNP ID
1GABRA1p.Ala322AspVAR_013642
2GABRA1p.Asp219AsnVAR_071810

Clinvar genetic disease variations for Epilepsy, Juvenile Myoclonic 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GABRA1NC_000005.10insertionrisk factorNCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)single nucleotide variantrisk factorGRCh38Chr 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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Compounds 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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Products for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Epilepsy, Juvenile Myoclonic 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet