Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome

Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome

Pedro Brugada, Josép Brugada · Journal of the American College of Cardiology · 1992 · 3.3K citations

Cardiomyopathy, Structural Heart Disease, Cardiovascular Disease +11

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

Michael J. Ackerman, Silvia G. Priori, Stephan Willems et al. · Heart Rhythm · 2011 · 1.5K citations

Channelopathies, Genetic Testing, Cardiomyopathy +5

A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neurons

Armen N. Akopian, Lucia G. Sivilotti, John N. Wood · Nature · 1996 · 1.1K citations

Hyperpolarization (Biology), Neurophysiology, Sensory Neurons +5

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Jamie D. Kapplinger, David J. Tester, Mariëlle Alders et al. · Heart Rhythm · 2009 · 753 citations · Full text

Channelopathies, Cardiomyopathy, Genetic Disorder +7

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R. Bezzina, Julien Barc, Yuka Mizusawa et al. · Nature Genetics · 2013 · 540 citations · Full text

Cardiomyopathy, Genetic Disorder, Genetics +9