Functional characterization and pharmacochaperone rescue of a novel SLC6A1 variant associated with developmental epileptic encephalopathies
Mutations in SLC6A1 , encoding the γ-aminobutyric acid (GABA) transporter 1 (GAT-1), are associated with a spectrum of neurodevelopmental disorders, including epilepsy syndromes, intellectual disability (ID), and autism. An important question is whether the impact of these mutations can be predicted at scale usin...