Sven Zumhagen

TL;DR: Overall, 21% of BrS probands have mutations in SCN5A compared to the 2% to 5% background rate of rare variants reported in healthy control subjects, which may help further distinguish pathogenic mutations from similarly rare but otherwise innocuous ones found in cases.

TL;DR: The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia and indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.

TL;DR: This high-density candidate SNP approach identified a key potassium channel susceptibility allele that may be associated with the rare adverse drug reaction torsades de pointes in drug-induced long-QT syndrome.

TL;DR: The TRPM4 gene mutations appear to play a major role in cardiac conduction disease but not for other related syndromes so far, and the phenotypes are variable and clearly suggestive of additional factors modulating the disease phenotype in some patients.

TL;DR: It is concluded that genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as a gain-of-function in Cav1.2 is likely to cause LQ TS and only specific and rare mutations, i.e. in exon 8, cause the multi-systemic TS.