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Equivalent Gain-of-Function Variants in <i>KCNK3</i> and <i>KCNK9</i> and their Contribution to Distinct TASK K2P Channelopathies

2025-12-18

Abstract excerpt

Gain-of-function (GoF) missense variants in the Two-Pore Domain (K2P) K + channel TASK-1 ( KCNK3 ) result in Developmental Delay with Sleep Apnea (DDSA), a neurodevelopmental channelopathy, whilst loss-of-function (LoF) variants cause a hypertensive disorder. However, for the related TASK-3 channel ( KCNK9 ), both LoF and GoF variants underlie a distinct neurodevelopmental disorder, KCNK9 Imprinting Syndrome (...

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Literature Corpus work
2db47f70-c160-55c0-84e3-9d2955949e2a
DOI
10.64898/2025.12.15.25342159
Open publication

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Equivalent Gain-of-Function Variants in <i>KCNK3</i> and <i>KCNK9</i> and their Contribution to Distinct TASK K2P ChannelopathiesDOI 10.64898/2025.12.15.25342159
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