Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

In this article, we identified a novel epileptogenic variant (G307R) of the gene <i>SLC6A1</i>, which encodes the GABA transporter GAT-1. Our main goal was to investigate the pathogenic mechanisms of this variant, located near the neurotransmitter permeation pathway, and compare it with...

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Bibliographic Details
Main Authors: Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
GABA transporter
epilepsy
intracellular trafficking
4-phenylbutyrate
Online Access:https://www.mdpi.com/1422-0067/24/2/955

Internet

https://www.mdpi.com/1422-0067/24/2/955

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