Disease Modifiers of Inherited SCN5A Channelopathy
نویسندگان
چکیده
منابع مشابه
Link between pain and olfaction in an inherited sodium channelopathy.
In a major breakthrough in our understanding of human olfaction, a recent study showed that loss-of-function mutations in the voltage-gated sodium channel Nav1.7, encoded by the gene SCN9A, cause a loss of the sense of smell (congenital general anosmia) in mice and humans. These findings are of special clinical relevance because Nav1.7 was previously known for its essential role in the percepti...
متن کاملUnconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
BACKGROUND Mutations in the cardiac sodium channel, SCN5A, have been associated with one type of long-QT syndrome, with isolated cardiac conduction defects and Brugada syndrome. The sodium channelopathies exhibit marked variation in clinical phenotypes. The mechanisms underlying the phenotypical diversity, however, remain unknown. Exonic SCN5A mutations can be detected in 20% of Brugada syndrom...
متن کاملONLINE MUTATION REPORT Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
Background: Mutations in the cardiac sodium channel, SCN5A, have been associated with one type of long-QT syndrome, with isolated cardiac conduction defects and Brugada syndrome. The sodium channelopathies exhibit marked variation in clinical phenotypes. The mechanisms underlying the phenotypical diversity, however, remain unknown. Exonic SCN5A mutations can be detected in 20% of Brugada syndro...
متن کاملMultifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
OBJECTIVES The aim of this study was to describe a new familial cardiac phenotype and to elucidate the electrophysiological mechanism responsible for the disease. BACKGROUND Mutations in several genes encoding ion channels, especially SCN5A, have emerged as the basis for a variety of inherited cardiac arrhythmias. METHODS Three unrelated families comprising 21 individuals affected by multif...
متن کاملSudden cardiac death and inherited channelopathy: the basic electrophysiology of the myocyte and myocardium in ion channel disease
Mutations involving cardiac ion channels result in abnormal action potential formation or propagation, leading to cardiac arrhythmias. Despite the large impact on society of sudden cardiac death resulting from such arrhythmias, understanding of the underlying cellular mechanism is poor and clinical risk stratification and treatment consequently limited. Basic research using molecular techniques...
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ژورنال
عنوان ژورنال: Frontiers in Cardiovascular Medicine
سال: 2018
ISSN: 2297-055X
DOI: 10.3389/fcvm.2018.00137