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epilepsy, childhood absence, susceptibility to, 5

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.
Uniprot Description A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Mondo Term and Equivalent IDs
MONDO:0012843:  epilepsy, childhood absence, susceptibility to, 5