Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

• DOI: 10.1016/j.gim.2023.101034
• Publication Date: 2023-12-03T02:11:41Z
• Authors: Reza Maroofian; Mina Zamani; Rauan Kaiyrzhanov; Lutz Liebmann; Ehsan Ghayoor Kar...; Barbara Vona; Antje K. Huebner; Daniel G. Calame; Vinod K. Misra; Saeid Sadeghian; Reza Azizimalamiri; Mohammad Hasan Mo...; Jawaher Zeighami; Sogand Heydaran; Mehran Beiraghi T...; Javad Akhondian; Meisam Babaei; Narges Hashemi; Rhonda E. Schnur; Mohnish Suri; Jonas Setzke; Matias Wagner; Theresa Brunet; Christopher M. Gr...; Lisa Emrick; Wendy K. Chung; Ute A. Hellmich; Miriam Schmidts; James R. Lupski; Hamid Galehdari; Mariasavina Severino; Henry Houlden; Christian A. Hübner
• Keywords: Sodium bicarbonate; Bicarbonate; Neurodevelopmental disorder

SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na