A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

A gain-of-function SNP in TRPC4 cation channel protects against myocardial infarction

(2011) Carole Jung et al.   CARDIOVASCULAR RESEARCH

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization

(2011) Stefano Marangoni et al.   CARDIOVASCULAR RESEARCH

Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel

(2011) Arthur A.M. Wilde et al.   CIRCULATION RESEARCH

The crystal structure of a voltage-gated sodium channel

(2011) Jian Payandeh et al.   NATURE

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

(2009) Vincent Probst et al.   Circulation-Cardiovascular Genetics

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

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

(2009) ERIC LIZOTTE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Cardiac sodium channelopathies

(2009) Ahmad S. Amin et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

(2008) Paola G. Meregalli et al.   HEART RHYTHM

SCN5A channelopathies – An update on mutations and mechanisms

(2008) Thomas Zimmer et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Brugada syndrome: Recent advances and controversies

(2008) Charles Antzelevitch et al.   Current Cardiology Reports