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

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...
Paper Details
Title
Functional analysis of missense variants in the TRESK (KCNK18) K+ channel
Published Date
Jan 1, 2012
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