[HTML][HTML] Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes
I Rivolta, H Abriel, M Tateyama, H Liu, M Memmi… - Journal of Biological …, 2001 - ASBMB
Defects of the SCN5A gene encoding the cardiac sodium channel α-subunit are associated
with both the long QT-3 (LQT-3) subtype of long-QT syndrome and Brugada syndrome (BrS).
One previously described SCN5A mutation (1795insD) in the C terminus results in a clinical
phenotype combining QT prolongation and ST segment elevation, indicating a close
interrelationship between the two disorders. Here we provide additional evidence that these
two disorders are closely related. We report the analysis of two novel mutations on the same …
with both the long QT-3 (LQT-3) subtype of long-QT syndrome and Brugada syndrome (BrS).
One previously described SCN5A mutation (1795insD) in the C terminus results in a clinical
phenotype combining QT prolongation and ST segment elevation, indicating a close
interrelationship between the two disorders. Here we provide additional evidence that these
two disorders are closely related. We report the analysis of two novel mutations on the same …