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Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
When genetic testing was obtained, a heterozygous mutation was found in the SCN5A gene with a L227P variant located on exon 6.
Loss of function variants in SCN5A, both truncating and missense, occur in approximately 20% of Brugada patients (16).
A SCN5A R1193Q variant was identified, which we considered could account for the various arrhythmias observed in this case [3-5].
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
Brugada syndrome is a genetic disorder, with a loss-of-function mutation of the SCN5A gene implicated in about 30% of sufferers.
While molecular autopsies involving the 4 major cardiac channelopathy genes (KCNQ1 [LQT1], KCNH2 [LQT2], SCN5A [LQT3, BrS1], and RYR2 [CPVT1]) have implicated LQTS, CPVT, and BrS as the underlying pathogenetic basis for an estimated 25% to 30% of SUD cases, (9-11) to date there are at least 28 channelopathy-susceptibility genes.
(19) The SCN5A gene--a cardiac sodium channel--is t he most commonly implicated, but accounts for only 11% to 24% of all BS cases.
Effects of L-type [Ca.sup.2+] channel antagonism on ventricular arrhythmogenesis in murine hearts containing a modification in the Scn5a gene modelling human long QT syndrome 3.
Researchers found that patients with a subset of IBS have a specific genetic defect, a mutation of the SCN5A gene.
Recent studies have shown that familial SSS is linked to loss-of-function mutations of the SCN5A gene , which result in decreased inward [Na.sup.+] current [4, 5].
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- SCN5A sodium channel
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