<ul data-eligibleForWebStory="true"><li>Study reveals the role of SLC13A5 transporter in severe epilepsy related to citrate dysfunction.</li><li>Mutations in SLC13A5 gene disrupt citrate transport leading to developmental epileptic encephalopathy.</li><li>Research employs deep mutational scanning to identify critical mutations affecting transporter function.</li><li>Understanding SLC13A5 variants aids in rare disease mechanism elucidation for potential targeted therapies.</li><li>Findings highlight importance of functional mapping for membrane proteins in neurological disorders.</li></ul>

How a Malfunctioning Brain Transport Protein Sparks Severe Epilepsy

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