Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

BACKGROUND: Cys‐loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six missense variants in GABRA2, a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE). We identified a n...

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Detalles Bibliográficos
Autores principales: Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336760/
https://www.ncbi.nlm.nih.gov/pubmed/32347641
http://dx.doi.org/10.1002/mgg3.1106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336760/
https://www.ncbi.nlm.nih.gov/pubmed/32347641
http://dx.doi.org/10.1002/mgg3.1106

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