Details of Disease | DrugMAP

General Information of Disease (ID: DIS1AU30)

Disease Name	Epilepsy, childhood absence, susceptibility to, 5
Synonyms	GABRB3 childhood absence epilepsy; epilepsy, childhood absence, susceptibility to, type 5; ECA5; susceptibility to childhood absence epilepsy 5; childhood absence epilepsy caused by mutation in GABRB3; epilepsy, childhood absence, susceptibility to, 5
Definition	Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS1AU30: Epilepsy, childhood absence, susceptibility to, 5
Disease Identifiers	MONDO ID MONDO_0012843 UMLS CUI C2677087 OMIM ID 612269 MedGen ID 393654

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GABRB3	OT80C3D4	Definitive	Autosomal dominant	[1]
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References

1	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.