EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2022.852674
Abstract: In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption. The autosomal… read more here.
Keywords: kir4 kir5; east sesame; sesame syndrome; physiology ... See more keywords