Functional analysis of missense variants in the TRESK (KCNK18) K channel.
Functional analysis of missense variants in the TRESK (KCNK18) K channel.
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DOI：
10.1038/srep00237
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发表时间：
2012
影响因子：
4.6
通讯作者：
Tucker SJ
中科院分区：
文献类型：
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作者：
Andres-Enguix I;Shang L;Stansfeld PJ;Morahan JM;Sansom MS;Lafrenière RG;Roy B;Griffiths LR;Rouleau GA;Ebers GC;Cader ZM;Tucker SJ
TRESK K2P钾通道（KCNK18）的功能缺失突变最近与典型的家族性先兆偏头痛有关。我们现在报告在无关患者中鉴定的额外TRESK通道错义变体的功能特征。几种变体要么没有明显的功能效应，要么导致通道活性降低。然而，发现C110R变异体导致TRESK功能的完全丧失，但在散发性偏头痛和对照组中都存在，并且没有发现KCNK18拷贝数的变化。这一发现表明，单一的非功能性TRESK变体不足以单独引起典型的偏头痛，并突出了这种疾病的遗传复杂性。
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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影响因子：
4.8
作者：
Czirjak, Gabor;Enyedi, Peter
通讯作者：
Enyedi, Peter
影响因子：
64.5
作者：
Klassen T;Davis C;Goldman A;Burgess D;Chen T;Wheeler D;McPherson J;Bourquin T;Lewis L;Villasana D;Morgan M;Muzny D;Gibbs R;Noebels J
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16.2
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Adelman, JP;Bond, CT;Maylie, J
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Maylie, J
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De Fusco, M;Marconi, R;Casari, G
通讯作者：
Casari, G
影响因子：
30.8
作者：
通讯作者：
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