Defective X-Gating of TASK-1 in a Novel Channelopathy Associated with Sleep Apnea


ICMS 2022 UK


Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Karin E.J. Rödström, Thomas Müller, Thomas Baukrowitz, Matthew E. Hurles, Caroline F. Wright and Stephen J. Tucker



KCNK3 recently identified as one of 28 novel genes with a high burden of de novo mutations linked to developmental delay in children (Kaplanis, et al. Nature, 2020)

All probands with mutations in KCNK3 also had sleep apnea and needed nocturnal oxygen.

We now have identified 9 probands each heterozygous for one of 6 separate de novo missense mutations in KCNK

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