TY - JOUR
T1 - The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology
AU - Veerman, Christiaan C.
AU - Wilde, Arthur A. M.
AU - Lodder, Elisabeth M.
PY - 2015
Y1 - 2015
N2 - The gene SCN5A encodes the main cardiac sodium channel NaV1.5. This channel predominates the cardiac sodium current, INa, which underlies the fast upstroke of the cardiac action potential. As such, it plays a crucial role in cardiac electrophysiology. Over the last 60years a tremendous amount of knowledge regarding its function at the electrophysiological and molecular level has been acquired. Furthermore, genetic studies have shown that mutations in SCN5A are associated with multiple cardiac diseases (e.g. Brugada syndrome, Long QT syndrome, conduction disease and cardiomyopathy), while genetic variation in the general population has been associated with differences in cardiac conduction and risk of arrhythmia through genome wide association studies. In this review we aim to give an overview of the current knowledge (and the gaps therein) on SCN5A and NaV1.5
AB - The gene SCN5A encodes the main cardiac sodium channel NaV1.5. This channel predominates the cardiac sodium current, INa, which underlies the fast upstroke of the cardiac action potential. As such, it plays a crucial role in cardiac electrophysiology. Over the last 60years a tremendous amount of knowledge regarding its function at the electrophysiological and molecular level has been acquired. Furthermore, genetic studies have shown that mutations in SCN5A are associated with multiple cardiac diseases (e.g. Brugada syndrome, Long QT syndrome, conduction disease and cardiomyopathy), while genetic variation in the general population has been associated with differences in cardiac conduction and risk of arrhythmia through genome wide association studies. In this review we aim to give an overview of the current knowledge (and the gaps therein) on SCN5A and NaV1.5
U2 - https://doi.org/10.1016/j.gene.2015.08.062
DO - https://doi.org/10.1016/j.gene.2015.08.062
M3 - Review article
C2 - 26361848
SN - 0378-1119
VL - 573
SP - 177
EP - 187
JO - Gene
JF - Gene
IS - 2
ER -