Associated Papers
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
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
AlQudairy H et al.
Frontiers in Pediatrics, 2022
36923948 (PubMed )
Supplement: Table1.xlsx › Combined_Table
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J et al.
Molecular Genetics and Metabolism Reports, 2021
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
Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.
Kopel JJ et al.
The Biochemical Journal, 2021
Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism.
Selch S et al.
Scientific Reports, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › clinsig4or5
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
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
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J et al.
American Journal of Human Genetics, 2014
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