The Structural and Functional Basis of Defective X-Gating in a Novel TASK-1 Channelopathy Associated with Sleep Apnea

A UK-led study recently identified 28 novel genes with a high burden of de novo mutations associated with developmental disorders (Kaplanis et al, Nature, 2020). In collaboration with this group, we have exciting new evidence that a specific group of these patients, who also suffer sleep apnea, all have mutations in KCNK3 which encodes TASK-1. We…