Protein mutagenesis is essential for unveiling the molecular mechanisms underlying protein
function in health, disease, and evolution. In the past decade, deep mutational scanning …

Advances in next-generation sequencing have been exceptionally valuable for identifying
variants in medically actionable genes. However, for most missense variants there is …

Modern sequencing technologies have revolutionized our detection of gene variants.
However, in most genes, including KCNH2, the majority of missense variants are currently …

Background KCNE1 encodes a 129-residue cardiac potassium channel (I Ks) subunit.
KCNE1 variants are associated with long QT syndrome and atrial fibrillation. However, most …

These days, in vitro functional analysis of gene variants is becoming increasingly important
for risk stratification of cardiac ion channelopathies. So far, such risk stratification has been …

The recent explosion of epilepsy genetic testing has created challenges for interpretation of
gene variants. Assessments of the functional consequences of genetic variants either by …

It is challenging to apply traditional mutational scanning to voltage-gated sodium channels
(Na V s) and functionally annotate the large number of coding variants in these genes. Using …

Abstract Purpose The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS)
are Mendelian autosomal dominant diseases that frequently precipitate fatal cardiac …

The gradual evolution of pharmacogenomics has shed light on the genetic basis for inter-
individual drug response variations across diverse populations. This study aimed to identify …

Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases
the risk of sudden death in otherwise healthy young people. For many variants in LQTS …