Anna Abulí

Aug 3, 2023 | frontiersin.org | Stichting Zuidwester |Kantonsspital St. Gallen |Anna Abulí |Paola Tognini

IntroductionThe SLC6A1 gene encodes the GABA Transporter 1 (GAT-1), which is responsible for the re-uptake of GABA from the synapse and thus plays a prominent role in the GABAergic system. Since the first publications on SLC6A1, the gene has emerged at one of the more common monogenic causes of epilepsy and is currently a well-established cause of neurodevelopmental disorders (NDDs).