LIU, Jie; BAYER, Jason; ASCHAR-SOBBI, Roozbeh; WAUCHOP, Marianne; SPEARS, Danna; GOLLOB, Michael; VIGMOND, Edward; TSUSHIMA, Robert; BACKX, Peter; CHAUHAN, Vijay

doi:10.1371/journal.pone.0197273

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LIU, Jie
University of Science and Technology of China [Hefei] [USTC]

BAYER, Jason
Modélisation et calculs pour l'électrophysiologie cardiaque [CARMEN]

ASCHAR-SOBBI, Roozbeh
York University [Toronto]

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PLoS ONE. 2018-05-23, vol. 13, n° 5, p. e0197273

Public Library of Science

Resumen en inglés

The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine.< Leer menos