A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro

The GABRA1 gene encodes one of the most conserved and highly expressed subunits of the GABA(A) 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...

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Publicado no:Sci Rep
Main Authors: Steudle, Friederike, Rehman, Sabah, Bampali, Konstantina, Simeone, Xenia, Rona, Zsofia, Hauser, Erwin, Schmidt, Wolfgang M., Scholze, Petra, Ernst, Margot
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012862/
https://ncbi.nlm.nih.gov/pubmed/32047208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-59323-6
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