Groundbreaking work from the CeMM Research Center has decoded how mutations in the SLC13A5 citrate transporter disrupt neuronal metabolism, causing developmental epileptic encephalopathy (DEE). Using deep mutational scanning, researchers assessed nearly 10,000 genetic variants to elucidate functional impairments in citrate uptake critical for brain energy balance and signaling. These findings, reported in Science Advances, clarify disease mechanisms and offer a platform for targeted therapeutic development addressing this rare but severe pediatric neurological disorder.