Article
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Journal of neurogenetics - 1 Jan 2000
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
Abstract excerpt
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...
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