Expanding the phenotypic spectrum ofGABRG2variants: a recurrentGABRG2missense variant associated with a severe phenotype

Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent... View More