/febrile seizures, familial, 8

febrile seizures, familial, 8

Rare Disease

MONDO:0011891

Also Known As

GABRG2 childhood absence epilepsyGABRG2 generalised epilepsy with febrile seizures plusGABRG2 generalized epilepsy with febrile seizures pluschildhood absence epilepsy caused by mutation in GABRG2generalised epilepsy with febrile seizures plus caused by mutation in GABRG2generalised epilepsy with febrile seizures plus, type 3generalized epilepsy with febrile seizures plus caused by mutation in GABRG2generalized epilepsy with febrile seizures plus, type 3ECA2GEFSP3Gefs+, type 3epilepsy, childhood absence, susceptibility to, 2epilepsy, childhood absence, susceptibility to, type 2susceptibility to childhood absence epilepsy 2

Definition

A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.