Referenced in: none

Automatically associated channels: Nav1.5

Title: Sodium channelopathies: do we really understand what's going on?

Authors: Pieter G Postema, Arend Mosterd, Nynke Hofman, Marielle Alders, Arthur A M Wilde

Journal, date & volume: J. Cardiovasc. Electrophysiol., 2011 May , 22, 590-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20812931

Abstract
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.