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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24020955
Abstract: In this article, we identified a novel epileptogenic variant (G307R) of the gene SLC6A1, which encodes the GABA transporter GAT-1. Our main goal was to investigate the pathogenic mechanisms of this variant, located near the…
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Keywords:
gat;
gaba transporter;
transporter;
permeation pathway ... See more keywords