AAV-mediated gene therapy for SLC13A5 citrate transporter disorder rescues epileptic and metabolic phenotypes
Lauren E. Bailey, Morgan K. Schackmuth, Raegan M. Adams, Irvin T. Garza, K. L. Knight, Sydni K. Holmes, Meghan M. Eller, MinJae Lee, Rachel M. Bailey
This study shows that AAV-mediated gene therapy in SLC13A5-deficient mice reduces extracellular citrate, normalizes electrophysiologic and sleep issues, and improves seizure resistance.
bioRxiv · Jul 3, 2025 · PreprintNeuroscience