Functional analysis of missense variants in the TRESK (KCNK18) K+ channel

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Andres-Enguix, Isabelle
Shang, Lijun
Stansfeld, Phillip J
Morahan, Julia M
Sansom, Mark SP
Lafreniere, Ronald G
Roy, Bishakha
Griffiths, Lyn R
Rouleau, Guy A
Ebers, George C
Cader, Zameel M
Tucker, Stephen J
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2012
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http://creativecommons.org/licenses/by-nc-nd/3.0/
Abstract

A loss of function mutation in the TRESK K2P potassium channel (KCNK18), has recently been linked with typical familial migraine with aura. We now report the functional characterisation of additional TRESK channel missense variants identified in unrelated patients. Several variants either had no apparent functional effect, or they caused a reduction in channel activity. However, the C110R variant was found to cause a complete loss of TRESK function, yet is present in both sporadic migraine and control cohorts, and no variation in KCNK18 copy number was found. Thus despite the previously identified association between loss of TRESK channel activity and migraine in a large multigenerational pedigree, this finding indicates that a single non-functional TRESK variant is not alone sufficient to cause typical migraine and highlights the genetic complexity of this disorder.

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Scientific Reports
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© The Author(s) 2012. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License, which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/
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Medical and Health Sciences not elsewhere classified
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