当前位置： SCI文献检索 > JOURNAL OF ELECTROCARDIOLOGY期刊下所有文献 > Ten years of genes in inherited arrhythmia syndromes: an example of what we have learned from patients, electrocardiograms, and computers.

Ten years of genes in inherited arrhythmia syndromes: an example of what we have learned from patients, electrocardiograms, and computers.

Abstract：

:In the last 10 years the molecular substrate of a diversity of primary electrical diseases has been unraveled. Disease-causing mutations in ion-channel genes have been identified and have challenged clinical and basic electrophysiologists to mechanistically link the observed genetic aberrancies to the phenotype. Indeed, in collaborative efforts of clinical cardiologists, clinical and molecular geneticists, basic electrophysiologists and computer modellers, the pathophysiology of many clinical electrocardiographic findings have been elucidated in detail. The family described concerns an 8-generation SCN5a-linked family with a high incidence of nocturnal sudden death. The phenotype is characterised by bradycardia-dependent QT-prolongation, right precordial ST-elevation, conduction disease at all cardiac compartments, and sinus node disfunction. Heterologous expression of the mutant sodium channels demonstrated altered channel characteristics which, introduced in elegant computer modeling studies, nicely explained the complex phenotype. As such these studies serve as a good example of what can be reached in a multidisciplinary approach with clinical and basic scientists.

journal_name

J Electrocardiol

journal_title

Journal of electrocardiology

authors

Wilde AA,van den Berg MP

doi

10.1016/j.jelectrocard.2005.06.103

keywords:

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

145-9

issue

4 Suppl

eissn

0022-0736

issn

1532-8430

pii

S0022-0736(05)00137-8

journal_volume

38

pub_type

杂志文章,评审

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