2022
DOI: 10.3390/jcm11195625
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Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families

Abstract: The cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in SCN5A that result in loss of function of Nav1.5 are associated with inherited arrhythmia syndromes, which are caused by reduced cardiac excitability, particularly Brugada syndrome (BrS) as well as arrhythmogenic right ventricular cardiomyo… Show more

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Cited by 3 publications
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“…In most cases, it is inherited in an autosomal dominant manner. SCN5A variants are main contributors to BrS [62]. Importantly, the SCN5A c.941A>G, p.Tyr314Cys mutation described by us is the first case described in the literature, among patients with BrS.…”
Section: Genetic Findingsmentioning
confidence: 58%
“…In most cases, it is inherited in an autosomal dominant manner. SCN5A variants are main contributors to BrS [62]. Importantly, the SCN5A c.941A>G, p.Tyr314Cys mutation described by us is the first case described in the literature, among patients with BrS.…”
Section: Genetic Findingsmentioning
confidence: 58%