NeurosciencebioRxivPreprint
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…·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.
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