SLC13A5 encodes a high-affinity sodium/citrate cotransporter that mediates Na(+)-dependent entry of citrate into cells 1. The transporter recognizes the physiologically relevant trivalent form of citrate with a stoichiometry of 4 Na(+) per citrate molecule, making it an electrogenic transporter 1. SLC13A5 supports critical metabolic pathways including the Krebs cycle, fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis 2. The transporter is expressed in hepatocyte sinusoidal membranes, spermatozoa mitochondria, and neuronal plasma membranes, where it facilitates citrate uptake for energy production and cellular metabolism 1. Biallelic loss-of-function variants in SLC13A5 cause developmental and epileptic encephalopathy 25 (DEE25), characterized by neonatal-onset seizures evolving into status epilepticus in 57% of patients 3. Clinical features include severe developmental delay, hypotonia, and distinctive tooth hypoplasia or hypodontia 3. Notably, seizures often become controlled by late childhood, with ~60% seizure-free between ages 3-12 years 3. Neuroimaging abnormalities occur in approximately one-third of cases, with white matter lesions being most common 4. The molecular mechanisms linking citrate transporter deficiency to epilepsy likely involve dysfunction of GABA signaling and NMDA receptor hyperfunction 1. Current antiseizure medications partially control seizures, though gene therapy approaches show promise 5.