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

• Main Authors: Hanan AlQudairy (Author), Hesham AlDhalaan (Author), Sarah AlRuways (Author), Nouf AlMutairi (Author), Maha AlNakiyah (Author), Reema AlGhofaili (Author), Albandary AlBakheet (Author), Adeeb Alomrani (Author), Omar A. Alharbi (Author), Ehab Tous (Author), Moeen AlSayed (Author), Hamad AlZaidan (Author), Maha M. AlRasheed (Author), Ali AlOdaib (Author), Namik Kaya (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundSLC13A5 (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...