Pathogenic missense and truncating variants in theGABRG2gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in theGABRG2gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent,de novomissense variant (c0.316 G > A; p.A106T) in theGABRG2gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported forGABRG2missense variants. Common features include variable early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. Our report further explores a recurrent pathogenic missense variant within theGABRG2variant family and broadens the spectrum of associated phenotypes forGABRG2-associated disorders. [ABSTRACT FROM AUTHOR]