Article
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Scientific reports - 11 Feb 2020
Steudle Friederike, Rehman Sabah, Bampali Konstantina, Simeone Xenia, Rona Zsofia, Hauser Erwin, Schmidt Wolfgang M, Scholze Petra, Ernst Margot
Abstract excerpt
The GABRA1 gene encodes one of the most conserved and highly expressed subunits of the GABAA receptor family. Variants in this gene are causatively implicated in different forms of epilepsy and also more severe epilepsy-related neurodevelopmental syndromes. Here we study functional consequences of a novel de novo missense GABRA1 variant, p.(Ala332Val), identified through exome sequencing in an individual affected...
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