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pubmed-article:20009079pubmed:abstractTextSudden infant death syndrome (SIDS) is a leading cause of death during the first 6 months after birth. About 5% to 10% of SIDS may stem from cardiac channelopathies such as long-QT syndrome. We recently implicated mutations in alpha1-syntrophin (SNTA1) as a novel cause of long-QT syndrome, whereby mutant SNTA1 released inhibition of associated neuronal nitric oxide synthase by the plasma membrane Ca-ATPase PMCA4b, causing increased peak and late sodium current (I(Na)) via S-nitrosylation of the cardiac sodium channel. This study determined the prevalence and functional properties of SIDS-associated SNTA1 mutations.lld:pubmed
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pubmed-article:20009079pubmed:articleTitleAlpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.lld:pubmed
pubmed-article:20009079pubmed:affiliationDivision of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA.lld:pubmed
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