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Article

AAV-mediated gene therapy in a model of SLC13A5 citrate transporter disorder rescues epileptic and metabolic phenotypes.

The Journal of clinical investigation - 15 Apr 2026

Bailey Lauren E, Adams Raegan M, Schackmuth Morgan K, Garza Irvin T, Knight Krishanna, Holmes Sydni K, Eller Meghan M, Lee MinJae, Bailey Rachel M

Abstract excerpt

SLC13A5 citrate transporter disorder is a rare epileptic encephalopathy caused by loss-of-function pathogenic variants in the SLC13A5 gene. Loss of sodium/citrate cotransporter (NaCT) function causes a severe early-life epilepsy resulting in lifelong developmental disabilities and increased extracellular citrate. Current antiseizure medications may reduce seizure frequency, yet more targeted treatments are needed...

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Source

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Identifiers

PMID: 41712282
DOI: 10.1172/JCI197503
PMCID: PMC13078891

Genes

SLC13A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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