MCID: EPL043
MIFTS: 12

Epilepsy, Childhood Absence, Susceptibility to, 4 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Epilepsy, Childhood Absence, Susceptibility to, 4

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48OMIM, 34MalaCards
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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:48 611136

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

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Sources:
21GeneTests, 23GTR, 63UMLS, 48OMIM
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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 21 23 63
epilepsy, childhood absence 4 48


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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48OMIM
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Clinical features from OMIM:

611136

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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21GeneTests, 23GTR
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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, 421 GABRA1
2 Epilepsy, Childhood Absence 423

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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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 4:

65
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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet