Case report
Open access
Aug 2026
4-Phenylbutyrate Plus Wildtype GAT-1 Augmentation: A Dual Therapy to Rescue SLC6A1 Variant-Associated Developmental and Epileptic Encephalopathy
These findings support a two-pronged precision-medicine framework for SLC6A1-related DEEs in which PBA increased the transporter function augmented by genetic approaches, and pharmacochaperones (PBA, TUDCA) restored GABA uptake for the mutant transporters.
A. Delahanty, K. James, E. Carter et al.
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