Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault R. H. Jouen-Tachoire, Shanlin Rao, Elena B. Riel, Katherine E. Agre, Amber Hogart Begtrup, John Dean, Maria D. Descartes, Jan Fischer, Alice Gardham, Carrie A. Lahner, Paul R. Mark, Srikanth Muppidi, , Stephen J. Tucker
The paper identifies de novo gain-of-function mutations in KCNK3 causing a developmental disorder with sleep apnea by disrupting X-gating of TASK-1 channels.
Nature Genetics · Oct 1, 2022Peer-reviewedGenetic & Genomic Medicine