Article

Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy

2024-05-23

Abstract excerpt

The sodium-coupled citrate transporter (NaCT, SLC13A5) mediates citrate uptake across the plasma membrane via an inward Na + gradient. Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired citrate uptake in neurons. Despite clinical identification of disease-causing mutations, underlying mechanisms and cures remain elusive. We mechanistically classi...

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Literature Corpus work: d03561d3-bbf5-5caf-9828-5dfe668899b3
DOI: 10.1101/2024.05.23.594637

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