Details of Disease

General Information of Disease (ID: DISZA3EN)

Disease Name Epilepsy, idiopathic generalized, susceptibility to, 13
Synonyms
GABRA1 juvenile myoclonic epilepsy; juvenile myoclonic epilepsy caused by mutation in GABRA1; epilepsy, juvenile myoclonic, susceptibility to, 5; epilepsy, childhood absence, susceptibility to, 4; epilepsy, idiopathic generalized, susceptibility to, type 13; susceptibility to idiopathic generalised epilepsy 13; EIG13; susceptibility to idiopathic generalized epilepsy 13; epilepsy, idiopathic generalized, susceptibility to, 13
Definition
An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISZA3EN: Epilepsy, idiopathic generalized, susceptibility to, 13
Disease Identifiers
MONDO ID
MONDO_0012627
UMLS CUI
C4013473
OMIM ID
611136
MedGen ID
861910

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GABRA1 TT1MPAY Strong Autosomal dominant [1]
GABRA1 TT1MPAY Strong Biomarker [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNB4 DTV8E46 Limited Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNB4 OTYAI1UO Limited Autosomal dominant [3]
GABRA1 OTC2W96H Strong Autosomal dominant [1]
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References

1 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002 Jun;31(2):184-9. doi: 10.1038/ng885. Epub 2002 May 6.
2 Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. Brain. 2019 Jul 1;142(7):1938-1954. doi: 10.1093/brain/awz123.
3 Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4.