Defective X-Gating of TASK-1 in a Novel Channelopathy Associated with Sleep Apnea
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Clear link between DDSA mutations and Developmental Delay
with Sleep Apnea
DDSA mutations are gain-of-function even as ‘heterozygous’
channels
They have a higher open probability caused by a defective Xgating
They are less sensitive to GPCR mediation
DDSA mutations still retain sensitivity to inhibition by clinically
relevant drugs e.g. BAY1000493. Similar drug used in KOALA trial
(NCT04236440