MCID: EPL018
MIFTS: 50

Epilepsy, Childhood Absence, Susceptibility to, 2 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Epilepsy, Childhood Absence, Susceptibility to, 2

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48OMIM, 34MalaCards
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MalaCards: Epilepsy, Childhood Absence, Susceptibility to, 2, also known as childhood absence epilepsy, is related to childhood absence epilepsy and idiopathic generalized epilepsy. An important gene associated with Epilepsy, Childhood Absence, Susceptibility to, 2 is GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Akt Signaling. The drugs sodium valproate and valproic acid and the compounds flumazenil and etomidate have been mentioned in the context of this disorder. Related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:48 600131,607681,611942,612269,611136

Aliases & Classifications for Epilepsy, Childhood Absence, Susceptibility to, 2

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21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
childhood absence epilepsy:
Inheritance: Autosomal dominant


Aliases & Descriptions:

epilepsy, childhood absence, susceptibility to, 2 21 23 63
childhood absence epilepsy 50 48
epilepsy, childhood absence 2 48
absence epilepsy 63
pyknolepsy 50


External Ids:

SNOMED-CT via Orphanet60 50866000
ICD10 via Orphanet27 G40.3

Related Diseases for Epilepsy, Childhood Absence, Susceptibility to, 2

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Epilepsy, Childhood Absence, Susceptibility to, 2:



Diseases related to epilepsy, childhood absence, susceptibility to, 2

Symptoms for Epilepsy, Childhood Absence, Susceptibility to, 2

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48OMIM
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Symptoms by clinical synopsis from OMIM:

600131

Clinical features from OMIM:

600131,607681,611942,612269,611136

Drugs & Therapeutics for Epilepsy, Childhood Absence, Susceptibility to, 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Epilepsy, Childhood Absence, Susceptibility to, 2

Drug clinical trials:

Search ClinicalTrials for Epilepsy, Childhood Absence, Susceptibility to, 2

Search NIH Clinical Center for Epilepsy, Childhood Absence, Susceptibility to, 2

Search CenterWatch for Epilepsy, Childhood Absence, Susceptibility to, 2

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Epilepsy, Childhood Absence, Susceptibility to, 2

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21GeneTests, 23GTR
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Genetic tests related to Epilepsy, Childhood Absence, Susceptibility to, 2:

id Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence, Susceptibility to, 221 GABRG2
2 Epilepsy, Childhood Absence 223

Anatomical Context for Epilepsy, Childhood Absence, Susceptibility to, 2

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Animal Models for Epilepsy, Childhood Absence, Susceptibility to, 2 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Epilepsy, Childhood Absence, Susceptibility to, 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6SLC2A1, GABRB3, GABRA1
2MP:00053867.9SLC2A1, GABRB3, GABRA1, GABRG2
3MP:00036317.6SLC2A1, GABRB3, GABRA1, GABRG2, CACNA1H
4MP:00053787.5CACNA1H, GABRG2, GABRA1, GABRB3, SLC2A1

Publications for Epilepsy, Childhood Absence, Susceptibility to, 2

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Variations for Epilepsy, Childhood Absence, Susceptibility to, 2

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 2:

65
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070

Clinvar genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1GABRG2NM_198903.2(GABRG2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971

Expression for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 2

Search GEO for disease gene expression data for Epilepsy, Childhood Absence, Susceptibility to, 2.

Pathways for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 2

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Sources:
51PathCards, 52PharmGKB, 56Reactome, 54QIAGEN, 31KEGG, 62Tocris Bioscience, 39NCBI BioSystems Database, 13EMD Millipore, 55R&D Systems
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Pathways related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2GABRG2, GABRA1
2
Show member pathways
8.6GABRG2, GABRA1, GABRB3
38.6GABRG2, GABRA1, GABRB3
4
Show member pathways
8.6GABRG2, GABRA1, GABRB3
5
Show member pathways
8.6GABRB3, GABRA1, GABRG2
6
Show member pathways
8.6GABRB3, GABRA1, GABRG2
7
Show member pathways
8.6GABRB3, GABRA1, GABRG2
8
Show member pathways
8.6GABRB3, GABRA1, GABRG2
9
Show member pathways
8.6GABRB3, GABRA1, GABRG2
10
Show member pathways
8.6GABRB3, GABRA1, GABRG2
11
Show member pathways
8.2GABRG2, GABRA1, GABRB3, SLC2A1
12
Show member pathways
8.1GABRB3, GABRA1, GABRG2, CACNA1H
13
Show member pathways
8.1CACNA1H, GABRG2, GABRA1, GABRB3

Compounds for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 2

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Sources:
30IUPHAR, 46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1flumazenil30 46 1211.3GABRG2, GABRA1
2etomidate46 1210.2SLC2A1, GABRA1
3phenytoin46 52 30 1212.2SLC2A1, GABRA1
4pentobarbital46 1210.1SLC2A1, GABRA1
5(-)-bicuculline methochloride629.0GABRA1, GABRG2, GABRB3
6(+)-bicuculline629.0GABRB3, GABRA1, GABRG2
7(-)-bicuculline methiodide629.0GABRG2, GABRB3, GABRA1
8sr 95531 hydrobromide629.0GABRB3, GABRA1, GABRG2
9estazolam46 1210.0GABRB3, GABRA1, GABRG2
10quazepam46 1210.0GABRG2, GABRA1, GABRB3
11nitrazepam46 1210.0GABRG2, GABRA1, GABRB3
12bromazepam46 1210.0GABRG2, GABRA1, GABRB3
13flurazepam46 1210.0GABRG2, GABRA1, GABRB3
14lorazepam46 52 1210.9GABRG2, GABRA1, GABRB3
15oxazepam52 129.9GABRG2, GABRA1, GABRB3
16chlordiazepoxide46 129.9GABRG2, GABRA1, GABRB3
17clonazepam46 129.9GABRG2, GABRA1, GABRB3
18tbps46 309.9GABRG2, GABRA1, GABRB3
19muscimol46 62 3010.9GABRB3, GABRA1, GABRG2
20triazolam46 129.9GABRG2, GABRA1, GABRB3
21clobazam46 52 1210.9GABRG2, GABRA1, GABRB3
22alprazolam46 129.8GABRG2, GABRA1, GABRB3
23Gamma-Aminobutyric acid258.8GABRG2, GABRA1, GABRB3
24midazolam46 52 1210.8GABRB3, GABRA1, GABRG2
25chlorine46 259.7GABRB3, GABRA1, GABRG2
26picrotoxin46 30 1210.7GABRB3, GABRA1
27diazepam46 30 52 1211.5SLC2A1, GABRB3, GABRA1, GABRG2
28gaba468.4SLC2A1, GABRB3, GABRA1, GABRG2

GO Terms for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 2

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17Gene Ontology
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Cellular components related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.2SLC2A1, CACNA1H
2chloride channel complexGO:0347078.7GABRB3, GABRA1, GABRG2
3postsynaptic membraneGO:0452118.6GABRB3, GABRA1, GABRG2
4integral component of plasma membraneGO:0058878.6GABRB3, GABRA1, GABRG2
5cell junctionGO:0300548.5GABRG2, GABRA1, GABRB3

Biological processes related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:0519329.3GABRA1, GABRG2
2gamma-aminobutyric acid signaling pathwayGO:0072148.9GABRG2, GABRA1
3synaptic transmissionGO:0072688.6GABRB3, GABRA1, GABRG2
4ion transmembrane transportGO:0342208.5GABRB3, GABRA1, GABRG2
5transportGO:0068108.2GABRB3, GABRA1, GABRG2, CACNA1H
6transmembrane transportGO:0550858.2GABRG2, GABRA1, GABRB3, SLC2A1

Molecular functions related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052548.6GABRB3, GABRA1, GABRG2
2GABA-A receptor activityGO:0048908.5GABRB3, GABRA1, GABRG2
3extracellular ligand-gated ion channel activityGO:0052308.3GABRB3, GABRA1, GABRG2

Products for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 2

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Sources for Epilepsy, Childhood Absence, Susceptibility to, 2

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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