4 Phenylbutyrate Plus Gene augmentation: A dual therapy To Rescue of SLC6A1 Variant Associated Developmental And Epileptic Encephalopathy
Aiden James Delahanty, Kaitlin C. James, Emma Grace, Ziasng Debbie Song, Juexin Wang, Melissa Bassette, 康静琼
This paper demonstrates that the SLC6A1 A305V variant causes GAT-1 destabilization and ER retention, which can be rescued by pharmacologic chaperones like PBA and gene augmentation.
bioRxiv · Jun 19, 2026 · PreprintNeuroscience