Associated Papers
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.
Ozlu C et al.
Developmental Medicine and Child Neurology, 2025
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
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
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.
Spelbrink EM et al.
Frontiers in Genetics, 2023
Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder.
Brown TL et al.
Metabolites, 2021
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge MN et al.
Molecular Genetics and Metabolism, 2017
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ et al.
Child Neurology Open, 0
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