Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017)

• Record Type: Journal Article
• Authors: Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der Smagt, Jasper; Yousaf, Adeel; Tennison, Michael; Shanmugham, Anita; Butler, Elizabeth; Richard, Gabriele; McKnight, Dianalee
• Is Part Of: Journal of neurogenetics. Volume 31:Number 1/2(2017)
• Page Start: 30
• Page End: 36
• Publication Date: 2017-04-03
• Subjects: Epilepsy -- genetics -- seizures -- GABRG2 -- phenotype -- missense; Neurogenetics -- Periodicals; 616.80442
• DOI: 10.1080/01677063.2017.1315417
• Languages: English
• ISSNs: 0167-7063

Abstract

Abstract: 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, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense 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 the GABRG2 variant family and broadens the spectrum of associated phenotypes for GABRG2 -associated disorders.