Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis.
作者信息
Cannon Stephen C
机构信息
Department of Physiology, David Geffen School of Medicine at UCLA, USA.
出版信息
J Neurol Sci. 2020 May 15;412:116794. doi: 10.1016/j.jns.2020.116794. Epub 2020 Mar 20.
Abstract
摘要
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Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis.散发性和甲状腺毒性周期性麻痹共同遗传易感性的进一步证据。
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Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.钾通道相关肽MiRP2-R83H变体与周期性麻痹无关联。
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Familial thyrotoxic periodic paralysis.家族性甲状腺毒症性周期性麻痹
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Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients.日本散发性周期性麻痹患者相关遗传背景分析。
J Neurol Sci. 2020 May 15;412:116795. doi: 10.1016/j.jns.2020.116795. Epub 2020 Mar 24.
2
Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis.非家族性低钾性周期性麻痹的新型易感基因。
Neurology. 2016 Mar 29;86(13):1190-8. doi: 10.1212/WNL.0000000000002524. Epub 2016 Mar 2.
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Channelopathies of skeletal muscle excitability.骨骼肌兴奋性通道病
Compr Physiol. 2015 Apr;5(2):761-90. doi: 10.1002/cphy.c140062.
4
Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.遗传变异 rs623011（17q24.3）与非家族性毒性弥漫性甲状腺肿及散发性低钾性周期性瘫痪相关。
Clin Chim Acta. 2012 Dec 24;414:105-8. doi: 10.1016/j.cca.2012.08.004. Epub 2012 Aug 15.
5
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis.一项全基因组关联研究鉴定出甲状腺功能亢进性低钾周期性瘫痪的新易感性遗传变异。
J Hum Genet. 2012 May;57(5):301-4. doi: 10.1038/jhg.2012.20. Epub 2012 Mar 8.
6
Genotype and phenotype analysis of patients with sporadic periodic paralysis.散发性周期性瘫痪患者的基因型和表型分析。
Am J Med Sci. 2012 Apr;343(4):281-5. doi: 10.1097/MAJ.0b013e31822b430c.
7
Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.Kir2.6 调节 Kir2.x 内向整流钾通道的表面表达。
J Biol Chem. 2011 Mar 18;286(11):9526-41. doi: 10.1074/jbc.M110.170597. Epub 2011 Jan 5.
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Kir 2.1 channelopathies: the Andersen-Tawil syndrome.Kir2.1 通道病： Andersen-Tawil 综合征。
Pflugers Arch. 2010 Jul;460(2):289-94. doi: 10.1007/s00424-010-0820-6. Epub 2010 Mar 21.
9
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.钾通道 Kir2.6 突变导致甲状腺毒性低钾周期性瘫痪易感性。
Cell. 2010 Jan 8;140(1):88-98. doi: 10.1016/j.cell.2009.12.024.
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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.Kir2.1基因的突变导致安德森综合征的发育性和发作性电表型。
Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7.
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