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Article

Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.

Journal of molecular biology - 15 Nov 2024

Jaramillo-Martinez Valeria, Sennoune Souad R, Tikhonova Elena B, Karamyshev Andrey L, Ganapathy Vadivel, Urbatsch Ina L

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 and astrocytes. Despite clinical identification of disease-causing mutations, underlying mechanisms and cures remain elusive. Here we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39442909
DOI: 10.1016/j.jmb.2024.168820
PMCID: PMC11929159

Genes

SLC13A5

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Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.PMID 39442909Read ↗

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