Effects of GABA(A) Receptor α3 Subunit Epilepsy Mutations on Inhibitory Synaptic Signaling

Missense mutations T166M, Q242L, T336M, and Y474C in the GABA(A) receptor (GABA(A)R) α3 subunit gene are associated with epileptic seizures, dysmorphic features, intellectual disability, and developmental delay. When incorporated into GABA(A)Rs expressed in oocytes, all mutations are known to reduce...

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Detalles Bibliográficos
Autores principales: Syed, Parnayan, Durisic, Nela, Harvey, Robert J., Sah, Pankaj, Lynch, Joseph W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714833/
https://www.ncbi.nlm.nih.gov/pubmed/33328885
http://dx.doi.org/10.3389/fnmol.2020.602559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714833/
https://www.ncbi.nlm.nih.gov/pubmed/33328885
http://dx.doi.org/10.3389/fnmol.2020.602559

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