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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Detalhes bibliográficos
Publicado no:Front Mol Neurosci
Main Authors: Syed, Parnayan, Durisic, Nela, Harvey, Robert J., Sah, Pankaj, Lynch, Joseph W.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7714833/
https://ncbi.nlm.nih.gov/pubmed/33328885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2020.602559
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