Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Reduced current density, partially rescued by mexiletine, and depolarizing shift in activation of SCN5A W374G channels as a cause of severe form of Brugada syndrome.
Nakajima T et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2021
Whole‑exome sequencing identifies a novel mutation (R367G) in SCN5A to be associated with familial cardiac conduction disease.
Yu R et al.
Molecular Medicine Reports, 2017
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
23308164 (PubMed )
Supplement: pone.0053220.s002.doc
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
Liang P et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2006
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