Details of Disease

General Information of Disease (ID: DISJ6PF8)

Disease Name Epilepsy, idiopathic generalized, susceptibility to, 9
Synonyms
EIG9; epilepsy, juvenile myoclonic, susceptibility to, 6; susceptibility to idiopathic generalized epilepsy 9; susceptibility to idiopathic generalised epilepsy 9; epilepsy, idiopathic generalized, susceptibility to, 9; generalized epilepsy caused by mutation in CACNB4; generalised epilepsy caused by mutation in CACNB4; epilepsy, idiopathic generalized, susceptibility to, type 9; CACNB4 generalised epilepsy; CACNB4 generalized epilepsy
Definition Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISJ6PF8: Epilepsy, idiopathic generalized, susceptibility to, 9
Disease Identifiers
MONDO ID
MONDO_0011892
UMLS CUI
C2750887
OMIM ID
607682
MedGen ID
413424

Molecular Interaction Atlas (MIA) of This Disease

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

1 beta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brain. Mol Cell Neurosci. 1999 Apr;13(4):293-311. doi: 10.1006/mcne.1999.0748.
2 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.