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Article

The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.

Gene - 25 Feb 2014

Mechakra Asma, Vincent Yohann, Chevalier Philippe, Millat Gilles, Ficker Eckhard, Jastrzebski Marek, Poulin Hugo, Pouliot Valérie, Chahine Mohamed, Christé Georges

Abstract excerpt

BACKGROUND: A variant of the ether-à-go-go related channel (hERG), p.Arg148Trp (R148W) was found at heterozygous state in two infants who died from sudden infant death syndrome (SIDS), one with documented prolonged QTc and Torsade de Pointes (TdP), and in an adult woman with QTc >500 ms, atrioventricular block and TdP. This variant was previously reported in cases of severe ventricular arrhythmia but very rarely...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24334129
DOI: 10.1016/j.gene.2013.11.072

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Related research

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Research trail→

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