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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Vydáno v:Front Mol Neurosci
Hlavní autoři: Syed, Parnayan, Durisic, Nela, Harvey, Robert J., Sah, Pankaj, Lynch, Joseph W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Neuroscience
On-line přístup: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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