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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Bibliografiska uppgifter
I publikationen:Front Mol Neurosci
Huvudupphovsmän: Syed, Parnayan, Durisic, Nela, Harvey, Robert J., Sah, Pankaj, Lynch, Joseph W.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2020
Ämnen:
Neuroscience
Länkar: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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