Valerie A. Corfield

TL;DR: Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner, allowing new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene- specific approaches.

TL;DR: The present mutation update is a comprehensive description of all known LQTS‐ and SQTS‐associated mutations.

TL;DR: Data support the observation that apparently diverse cardiac troponin T gene mutations produce a consistent disease phenotype, and genotyping at this locus may be particularly informative in patient management and counselling.

TL;DR: Cellular expression studies revealed a gain-of-function mechanism underlying this type of familial heart block and identified the mutation c.19G-->A missense mutation attenuated deSUMOylation of the TRPM4 channel.

TL;DR: This study unexpectedly determined that KCNQ1-A341V is associated with greater risk than that reported for large databases of LQT1 patients and identified heart rate, an autonomic marker, as a novel risk factor.