MCID: EPL043
MIFTS: 12

Epilepsy, Childhood Absence, Susceptibility to, 4 malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Epilepsy, Childhood Absence, Susceptibility to, 4

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47OMIM, 33MalaCards
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MalaCards: Epilepsy, Childhood Absence, Susceptibility to, 4, is also known as epilepsy, childhood absence 4 An important gene associated with Epilepsy, Childhood Absence, Susceptibility to, 4 is GABRA1 (gamma-aminobutyric acid (GABA) A receptor, alpha 1).

Description from OMIM:47 611136

Aliases & Classifications for Epilepsy, Childhood Absence, Susceptibility to, 4

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Sources:
20GeneTests, 22GTR, 62UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

epilepsy, childhood absence, susceptibility to, 4 20 22 62
epilepsy, childhood absence 4 47


Related Diseases for Epilepsy, Childhood Absence, Susceptibility to, 4

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Symptoms for Epilepsy, Childhood Absence, Susceptibility to, 4

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47OMIM
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Clinical features from OMIM:

611136

Drugs & Therapeutics for Epilepsy, Childhood Absence, Susceptibility to, 4

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Childhood Absence, Susceptibility to, 4

Search NIH Clinical Center for Epilepsy, Childhood Absence, Susceptibility to, 4

Genetic Tests for Epilepsy, Childhood Absence, Susceptibility to, 4

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20GeneTests, 22GTR
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Genetic tests related to Epilepsy, Childhood Absence, Susceptibility to, 4:

id Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence, Susceptibility to, 420 GABRA1
2 Epilepsy, Childhood Absence 422

Anatomical Context for Epilepsy, Childhood Absence, Susceptibility to, 4

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Animal Models for Epilepsy, Childhood Absence, Susceptibility to, 4 or affiliated genes

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Publications for Epilepsy, Childhood Absence, Susceptibility to, 4

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Variations for Epilepsy, Childhood Absence, Susceptibility to, 4

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 4:

64
id Symbol AA change Variation ID SNP ID
1GABRA1p.Ala322AspVAR_013642

Expression for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

Search GEO for disease gene expression data for Epilepsy, Childhood Absence, Susceptibility to, 4.

Pathways for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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Compounds for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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GO Terms for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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Products for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epilepsy, Childhood Absence, Susceptibility to, 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet