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Defective X-gating caused by<i>de novo</i>gain-of-function mutations in<i>KCNK3</i>underlies a developmental disorder with sleep apnea

2021-08-09

Abstract excerpt

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. Here we describe a novel developmental disorder with sleep apnea caused by rare de novo gain-of-function mutations in KCNK3 . The mutations cluster around the ‘X-gate’, a gating motif which controls chann...

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Literature Corpus work
da26725f-a552-52f2-9c3e-117ccf815520
DOI
10.1101/2021.08.05.21261490
Open publication

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Defective X-gating caused by<i>de novo</i>gain-of-function mutations in<i>KCNK3</i>underlies a developmental disorder with sleep apneaDOI 10.1101/2021.08.05.21261490
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