Article

Epileptic phenotypes in <i>slc13a5</i> loss-of-function zebrafish are rescued by blocking NMDA receptor signaling

2024-01-18

Abstract excerpt

SLC13A5 encodes a citrate transporter highly expressed in the brain important for regulating intra- and extracellular citrate levels. Mutations in this gene cause a rare infantile epilepsy characterized by lifelong seizures, developmental delays, behavioral deficits, poor motor progression, and language impairments. SLC13A5 individuals respond poorly to treatment options; yet drug discovery programs are limited du...

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Literature Corpus work: d0061761-b193-5aae-80d6-fbee99461ac1
DOI: 10.1101/2024.01.15.575806

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