Effects of GABAA Receptor α3 Subunit Epilepsy Mutations on Inhibitory Synaptic Signaling

Effects of GABAA Receptor α3 Subunit Epilepsy Mutations on Inhibitory Synaptic Signaling

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

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Bibliographic Details
Main Authors: Parnayan Syed, Nela Durisic, Robert J. Harvey, Pankaj Sah, Joseph W. Lynch
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Molecular Neuroscience
Subjects:
α3 subunit
GABAA receptor
GABRA3
IPSC
missense mutation
epilepsy
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2020.602559/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2020.602559/full

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