Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ.
Sörmann J, et al.
Nat Genet. 2022 Oct;54(10):1534-1543. doi: 10.1038/s41588-022-01185-x. Epub 2022 Oct 4.
Nat Genet. 2022.
PMID: 36195757
Free PMC article.
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K(+) channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. ...
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K(+) channel implicate …