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Despoina Mandelenaki

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Open access Oct 2026

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...

Ziang Song, Melissa B. DeLeeuw, Despoina Mandelenaki et al. · 0 citations

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