Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Sleep apnea is a common disorder that represents a global public health burden. <i>KCNK3</i> encodes TASK-1, a K<sup>+</sup> channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a new developmental disorder...

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Príomhchruthaitheoirí: 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
Formáid: Journal article
Teanga:English
Foilsithe / Cruthaithe: Nature Research 2022

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