Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy
Valeria Jaramillo-Martinez,
Souad R. Sennoune,
Elena B. Tikhonova
et al.
Abstract: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 classify the molecular phenotypes of six mutations. C50R, T142M, and T227M exhibit impaired citrate transp… Show more
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