TY - JOUR
T1 - Sodium channelopathies: do we really understand what's going on?
AU - Postema, Pieter G.
AU - Mosterd, Arend
AU - Hofman, Nynke
AU - Alders, Marielle
AU - Wilde, Arthur A. M.
PY - 2011
Y1 - 2011
N2 - Long-QT syndrome, Brugada syndrome, and conduction disease may be caused by mutations in the cardiac sodium channel gene SCN5A, and from the ECG one can already presume either a gain- or a loss-of-function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation, the "classical" gain-of-function mutation associated with Long-QT syndrome, and the I1660V mutation, a loss-of-function mutation associated with Brugada syndrome. However, we were surprised by the result of genetic testing in this family. One son who carried the ΔKPQ mutation but not the I1660V mutation did not show the expected Long-QT phenotype but, unexpectedly, showed a conduction disease/Brugada phenotype
AB - Long-QT syndrome, Brugada syndrome, and conduction disease may be caused by mutations in the cardiac sodium channel gene SCN5A, and from the ECG one can already presume either a gain- or a loss-of-function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation, the "classical" gain-of-function mutation associated with Long-QT syndrome, and the I1660V mutation, a loss-of-function mutation associated with Brugada syndrome. However, we were surprised by the result of genetic testing in this family. One son who carried the ΔKPQ mutation but not the I1660V mutation did not show the expected Long-QT phenotype but, unexpectedly, showed a conduction disease/Brugada phenotype
U2 - https://doi.org/10.1111/j.1540-8167.2010.01892.x
DO - https://doi.org/10.1111/j.1540-8167.2010.01892.x
M3 - Article
C2 - 20812931
SN - 1045-3873
VL - 22
SP - 590
EP - 593
JO - Journal of cardiovascular electrophysiology
JF - Journal of cardiovascular electrophysiology
IS - 5
ER -