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epilepsy, idiopathic generalized, susceptibility to, 8

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene.
Uniprot Description A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.
Mondo Term and Equivalent IDs
MONDO:0013032:  epilepsy, idiopathic generalized, susceptibility to, 8
DOID:0111322: