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 en:Sci Rep
Autores principales: Steudle, Friederike, Rehman, Sabah, Bampali, Konstantina, Simeone, Xenia, Rona, Zsofia, Hauser, Erwin, Schmidt, Wolfgang M., Scholze, Petra, Ernst, Margot
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2020
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Article
Acceso en línea: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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