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Sodium Channelopathies: Do We Really Understand What's Going On?
Author(s) -
POSTEMA PIETER G.,
MOSTERD AREND,
HOFMAN NYNKE,
ALDERS MARIELLE,
WILDE ARTHUR A.M.
Publication year - 2011
Publication title -
journal of cardiovascular electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.193
H-Index - 138
eISSN - 1540-8167
pISSN - 1045-3873
DOI - 10.1111/j.1540-8167.2010.01892.x
Subject(s) - brugada syndrome , medicine , gain of function , mutation , sodium channel , phenotype , long qt syndrome , short qt syndrome , channelopathy , loss function , genetics , cardiology , gene , qt interval , sodium , biology , chemistry , organic chemistry
Sodium Channelopathies: Do We Really Understand ? 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. (J Cardiovasc Electrophysiol, Vol. 22, pp. 590‐593 May 2011)