Article

AAV-mediated gene therapy for SLC13A5 citrate transporter disorder rescues epileptic and metabolic phenotypes

2025-07-04

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 life-long developmental disabilities and increased extracellular citrate. Current antiseizure medications may reduce seizure frequency, yet more targeted treatments are needed...

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Literature Corpus work: 74430d7d-4cd7-5b7f-9a38-b35b6634af60
DOI: 10.1101/2025.07.03.663044

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