Associated Papers
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A et al.
International Journal of Molecular Sciences, 2023
Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome.
Tambi R et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2021
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
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
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
Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.
Hopkins SE et al.
Journal of Child Neurology, 2010
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
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
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL et al.
Human Mutation, 2009
A sodium channel pore mutation causing Brugada syndrome.
Pfahnl AE et al.
Heart Rhythm, 2007
Mutation screening for the genes causing cardiac arrhythmias.
Towbin JA
Methods in Molecular Medicine, 2006
Novel mutations in domain I of SCN5A cause Brugada syndrome.
Vatta M et al.
Molecular Genetics and Metabolism, 2002
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0