MCID: EPL018
MIFTS: 50

Epilepsy, Childhood Absence, Susceptibility to, 2 malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Epilepsy, Childhood Absence, Susceptibility to, 2

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47OMIM, 33MalaCards
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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:47 600131,607681,611942,612269,611136

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

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 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):

49
childhood absence epilepsy:
Inheritance: Autosomal dominant


Aliases & Descriptions:

epilepsy, childhood absence, susceptibility to, 2 20 22 62
childhood absence epilepsy 49 47
epilepsy, childhood absence 2 47
absence epilepsy 62
pyknolepsy 49


External Ids:

SNOMED-CT via Orphanet59 50866000
ICD10 via Orphanet26 G40.3

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

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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

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

Inferred drug relations via UMLS62/NDF-RT41:

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

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20GeneTests, 22GTR
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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, 220 GABRG2
2 Epilepsy, Childhood Absence 222

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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37MGI
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MGI Mouse Phenotypes related to Epilepsy, Childhood Absence, Susceptibility to, 2:

37
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 2:

64
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, 15Gene 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:
50PathCards, 51PharmGKB, 55Reactome, 53QIAGEN, 30KEGG, 61Tocris Bioscience, 38NCBI BioSystems Database, 12EMD Millipore, 54R&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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29IUPHAR, 45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB
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Compounds related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1flumazenil29 45 1111.3GABRG2, GABRA1
2etomidate45 1110.2SLC2A1, GABRA1
3phenytoin45 51 29 1112.2SLC2A1, GABRA1
4pentobarbital45 1110.1SLC2A1, GABRA1
5(-)-bicuculline methochloride619.0GABRA1, GABRG2, GABRB3
6(+)-bicuculline619.0GABRB3, GABRA1, GABRG2
7(-)-bicuculline methiodide619.0GABRG2, GABRB3, GABRA1
8sr 95531 hydrobromide619.0GABRB3, GABRA1, GABRG2
9estazolam45 1110.0GABRB3, GABRA1, GABRG2
10quazepam45 1110.0GABRG2, GABRA1, GABRB3
11nitrazepam45 1110.0GABRG2, GABRA1, GABRB3
12bromazepam45 1110.0GABRG2, GABRA1, GABRB3
13flurazepam45 1110.0GABRG2, GABRA1, GABRB3
14lorazepam45 51 1110.9GABRG2, GABRA1, GABRB3
15oxazepam51 119.9GABRG2, GABRA1, GABRB3
16chlordiazepoxide45 119.9GABRG2, GABRA1, GABRB3
17clonazepam45 119.9GABRG2, GABRA1, GABRB3
18tbps45 299.9GABRG2, GABRA1, GABRB3
19muscimol45 61 2910.9GABRB3, GABRA1, GABRG2
20triazolam45 119.9GABRG2, GABRA1, GABRB3
21clobazam45 51 1110.9GABRG2, GABRA1, GABRB3
22alprazolam45 119.8GABRG2, GABRA1, GABRB3
23Gamma-Aminobutyric acid248.8GABRG2, GABRA1, GABRB3
24midazolam45 51 1110.8GABRB3, GABRA1, GABRG2
25chlorine45 249.7GABRB3, GABRA1, GABRG2
26picrotoxin45 29 1110.7GABRB3, GABRA1
27diazepam45 29 51 1111.5SLC2A1, GABRB3, GABRA1, GABRG2
28gaba458.4SLC2A1, GABRB3, GABRA1, GABRG2

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

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16Gene 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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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Epilepsy, Childhood Absence, Susceptibility to, 2

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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