SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

doi:10.1093/brain/awad235

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Article

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Brain : a journal of neurology - 2 Nov 2023

Fasham James, Huebner Antje K, Liebmann Lutz, Khalaf-Nazzal Reham, Maroofian Reza, Kryeziu Nderim, Wortmann Saskia B, Leslie Joseph S, Ubeyratna Nishanka, Mancini Grazia M S, van Slegtenhorst Marjon, Wilke Martina, Haack Tobias B, Shamseldin Hanan E, Gleeson Joseph G, Almuhaizea Mohamed, Dweikat Imad, Abu-Libdeh Bassam, Daana Muhannad, Zaki Maha S, Wakeling Matthew N, McGavin Lucy, Turnpenny Peter D, Alkuraya Fowzan S, Houlden Henry, Schlattmann Peter, Kaila Kai, Crosby Andrew H, Baple Emma L, Hübner Christian A

Abstract excerpt

SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3- uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is expressed in principal neurons and interneurons, as well as in epithelial cells of the choroid plexus, the organ regulating the production of CSF. Using next generation sequencing on samples from five unrelated families encompassing nine...

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PMID: 37459438
DOI: 10.1093/brain/awad235
PMCID: PMC10629776

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Source receipt: pubmed, retrieved 7 Sept 2026.

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