MCID: EPL132
MIFTS: 18

Epilepsy, Childhood Absence 2 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Epilepsy, Childhood Absence 2

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MalaCards based summary: Epilepsy, Childhood Absence 2, is also known as epilepsy, childhood absence, susceptibility to, 2, and has symptoms including autosomal dominant inheritance, generalized tonic-clonic seizures and absence seizures. An important gene associated with Epilepsy, Childhood Absence 2 is GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2).

Description from OMIM:47 607681

Aliases & Classifications for Epilepsy, Childhood Absence 2

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Epilepsy, Childhood Absence 2, Aliases & Descriptions:

Name: Epilepsy, Childhood Absence 2 47
 
Epilepsy, Childhood Absence, Susceptibility to, 2 11 22 24


Classifications:

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


External Ids:

OMIM47 607681

Related Diseases for Epilepsy, Childhood Absence 2

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Diseases in the Childhood Absence Epilepsy family:

epilepsy, childhood absence 2 Epilepsy, Childhood Absence 5
Epilepsy, Childhood Absence 6

Symptoms for Epilepsy, Childhood Absence 2

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Symptoms by clinical synopsis from OMIM:

607681

Clinical features from OMIM:

607681

HPO human phenotypes related to Epilepsy, Childhood Absence 2:

(show all 7)
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

Drugs & Therapeutics for Epilepsy, Childhood Absence 2

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Childhood Absence 2

Search NIH Clinical Center for Epilepsy, Childhood Absence 2

Genetic Tests for Epilepsy, Childhood Absence 2

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Genetic tests related to Epilepsy, Childhood Absence 2:

id Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence, Susceptibility to, 222 GABRG2
2 Epilepsy, Childhood Absence 224

Anatomical Context for Epilepsy, Childhood Absence 2

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Animal Models for Epilepsy, Childhood Absence 2 or affiliated genes

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Publications for Epilepsy, Childhood Absence 2

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Variations for Epilepsy, Childhood Absence 2

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

64
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070

Clinvar genetic disease variations for Epilepsy, Childhood Absence 2:

7
id Gene Variation 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 2

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

Pathways for genes affiliated with Epilepsy, Childhood Absence 2

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Compounds for genes affiliated with Epilepsy, Childhood Absence 2

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GO Terms for genes affiliated with Epilepsy, Childhood Absence 2

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Products for genes affiliated with Epilepsy, Childhood Absence 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Epilepsy, Childhood Absence 2

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet