Details of Disease | DrugMAP

General Information of Disease (ID: DISFQI6J)

Disease Name	Epilepsy, idiopathic generalized, susceptibility to, 8
Synonyms	EIG8; susceptibility to idiopathic generalized epilepsy 8; susceptibility to idiopathic generalised epilepsy 8; CASR generalized epilepsy; epilepsy idiopathic generalized, susceptibility to, 8; epilepsy, idiopathic generalized, susceptibility to, type 8; generalised epilepsy caused by mutation in CASR; generalized epilepsy caused by mutation in CASR; CASR generalised epilepsy; epilepsy, idiopathic generalized, susceptibility to, 8
Definition	Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISFQI6J: Epilepsy, idiopathic generalized, susceptibility to, 8
Disease Identifiers	MONDO ID MONDO_0013032 UMLS CUI C2752062 OMIM ID 612899 MedGen ID 414549

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
CASR	TTBUYHA	Limited	Autosomal dominant	[1]
CASR	TTBUYHA	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASR	OT2PEJDO	Limited	Autosomal dominant	[1]
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References

1	An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428.