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...

Descripción completa

Detalles Bibliográficos
Autores principales: Steudle, Friederike, Rehman, Sabah, Bampali, Konstantina, Simeone, Xenia, Rona, Zsofia, Hauser, Erwin, Schmidt, Wolfgang M., Scholze, Petra, Ernst, Margot
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012862/
https://www.ncbi.nlm.nih.gov/pubmed/32047208
http://dx.doi.org/10.1038/s41598-020-59323-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012862/
https://www.ncbi.nlm.nih.gov/pubmed/32047208
http://dx.doi.org/10.1038/s41598-020-59323-6

Ejemplares similares