Paola Tognini

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).

Apr 28, 2023 | frontiersin.org | Paola Tognini |Marco Cambiaghi

Alessandra Tempio1*, Asma Boulksibat1, Barbara Bardoni1,2* and Sébastien Delhaye1 1Université Côte d’Azur, CNRS, Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France 2Inserm, Université Côte d’Azur, CNRS, Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability (ID) and a primary genetic cause of autism spectrum disorder (ASD).