Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A et al.
International Journal of Molecular Sciences, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome.
Zaytseva AK et al.
Biochemistry and Biophysics Reports, 2022
Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.
Pan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Multiple mechanisms underlie increased cardiac late sodium current.
Kroncke BM et al.
Heart Rhythm, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Therapeutic Strategies Targeting Inherited Cardiomyopathies.
Varian K et al.
Current Heart Failure Reports, 2017
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine.
Zhang J et al.
European Journal of Pharmacology, 2015
Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
Juang JM et al.
Scientific Reports, 2014
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
Shinlapawittayatorn K et al.
Circulation. Cardiovascular Genetics, 2011
A sodium channel pore mutation causing Brugada syndrome.
Pfahnl AE et al.
Heart Rhythm, 2007
Changes in action potentials and intracellular ionic homeostasis in a ventricular cell model related to a persistent sodium current in SCN5A mutations underlying LQT3.
Christé G et al.
Progress in Biophysics and Molecular Biology, 0
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0