Associated Papers
Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant.
Mohammadi MF et al.
Acta Neurologica Belgica, 2024
Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V et al.
Journal of Molecular Biology, 2024
Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V et al.
Biorxiv : the Preprint Server for Biology, 2024
Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A et al.
Pediatric Neurology, 2024
A home run for human NaCT/SLC13A5/INDY: cryo-EM structure and homology model to predict transport mechanisms, inhibitor interactions and mutational defects.
Jaramillo-Martinez V et al.
The Biochemical Journal, 2021
Functional Distinction between Human and Mouse Sodium-Coupled Citrate Transporters and Its Biologic Significance: An Attempt for Structural Basis Using a Homology Modeling Approach.
Jaramillo-Martinez V et al.
Chemical Reviews, 2021
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S et al.
Epilepsia, 2020
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K et al.
Brain : a Journal of Neurology, 2015
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