MCID: EPL018
MIFTS: 52

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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OMIM:46 Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by... (600131) more...

MalaCards based summary: Epilepsy, Childhood Absence, Susceptibility to, 2, also known as childhood absence epilepsy, is related to childhood absence epilepsy and juvenile myoclonic epilepsy, and has symptoms including autosomal dominant inheritance, generalized tonic-clonic seizures and absence seizures. 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.

Descriptions from OMIM:46 607681,611136,611942,612269

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

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Sources:
48Orphanet, 46OMIM, 61UMLS, 21GeneTests, 23GTR, 27ICD10 via Orphanet
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Epilepsy, Childhood Absence, Susceptibility to, 2, Aliases & Descriptions:

Name: Epilepsy, Childhood Absence, Susceptibility to, 2 21 23
Childhood Absence Epilepsy 48 46 61
 
Pyknolepsy 48 61
Epilepsy, Childhood Absence 2 46


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
childhood absence epilepsy:
Inheritance: Autosomal dominant


External Ids:

ICD10 via Orphanet27 G40.3

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

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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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Symptoms by clinical synopsis from OMIM:

600131

Clinical features from OMIM:

600131,607681,611136,611942,612269

HPO human phenotypes related to Epilepsy, Childhood Absence, Susceptibility to, 2:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 generalized tonic-clonic seizures HP:0002069
3 absence seizures HP:0002121
4 febrile seizures HP:0002373
5 eeg with polyspike wave complexes HP:0002392
6 eeg with spike-wave complexes (>3.5 hz) HP:0010849
7 childhood onset HP:0011463
8 autosomal dominant inheritance HP:0000006
9 generalized tonic-clonic seizures HP:0002069
10 absence seizures HP:0002121
11 febrile seizures HP:0002373
12 eeg with polyspike wave complexes HP:0002392
13 eeg with spike-wave complexes (>3.5 hz) HP:0010849
14 childhood onset HP:0011463

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

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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 UMLS61/NDF-RT40:

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

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

36
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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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 2:

63
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070

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

7
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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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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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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Compounds related to Epilepsy, Childhood Absence, Susceptibility to, 2 according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1flumazenil29 44 1211.3GABRG2, GABRA1
2etomidate44 1210.2SLC2A1, GABRA1
3phenytoin44 50 29 1212.2SLC2A1, GABRA1
4pentobarbital44 1210.1SLC2A1, GABRA1
5(-)-bicuculline methochloride609.0GABRA1, GABRG2, GABRB3
6(+)-bicuculline609.0GABRB3, GABRA1, GABRG2
7(-)-bicuculline methiodide609.0GABRG2, GABRB3, GABRA1
8sr 95531 hydrobromide609.0GABRB3, GABRA1, GABRG2
9estazolam44 1210.0GABRB3, GABRA1, GABRG2
10quazepam44 1210.0GABRG2, GABRA1, GABRB3
11nitrazepam44 1210.0GABRG2, GABRA1, GABRB3
12bromazepam44 1210.0GABRG2, GABRA1, GABRB3
13flurazepam44 1210.0GABRG2, GABRA1, GABRB3
14lorazepam44 50 1210.9GABRG2, GABRA1, GABRB3
15oxazepam50 129.9GABRG2, GABRA1, GABRB3
16chlordiazepoxide44 129.9GABRG2, GABRA1, GABRB3
17clonazepam44 129.9GABRG2, GABRA1, GABRB3
18tbps44 299.9GABRG2, GABRA1, GABRB3
19muscimol44 60 2910.9GABRB3, GABRA1, GABRG2
20triazolam44 129.9GABRG2, GABRA1, GABRB3
21clobazam44 50 1210.9GABRG2, GABRA1, GABRB3
22alprazolam44 129.8GABRG2, GABRA1, GABRB3
23Gamma-Aminobutyric acid258.8GABRG2, GABRA1, GABRB3
24midazolam44 50 1210.8GABRB3, GABRA1, GABRG2
25chlorine44 259.7GABRB3, GABRA1, GABRG2
26picrotoxin44 29 1210.7GABRB3, GABRA1
27diazepam44 29 50 1211.5SLC2A1, GABRB3, GABRA1, GABRG2
28gaba448.4SLC2A1, GABRB3, GABRA1, GABRG2

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

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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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet