Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

BACKGROUND: SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as “developmental and epileptic enc...

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Detalles Bibliográficos
Autores principales: AlQudairy, Hanan, AlDhalaan, Hesham, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, AlBakheet, Albandary, Alomrani, Adeeb, Alharbi, Omar A., Tous, Ehab, AlSayed, Moeen, AlZaidan, Hamad, AlRasheed, Maha M., AlOdaib, Ali, Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10008858/
https://www.ncbi.nlm.nih.gov/pubmed/36923948
http://dx.doi.org/10.3389/fped.2022.1051534

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10008858/
https://www.ncbi.nlm.nih.gov/pubmed/36923948
http://dx.doi.org/10.3389/fped.2022.1051534

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