The human ether-a-go-go related gene (hERG) encodes the pore-forming subunit of the
rapid component of the delayed rectifier K+ channel, Kv11. 1, which are expressed in the …

Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …

It has been suggested that deficient protein trafficking to the cell membrane is the dominant
mechanism associated with type 2 Long QT syndrome (LQT2) caused by Kv11. 1 potassium …

The fine tuning of biological electrical signaling is mediated by variations in the rates of
opening and closing of gates that control ion flux through different ion channels. Human …

Aims More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-
missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of …

Background KCNH2 encodes the human ether-à-go-go-related gene potassium channel,
which passes the rapid delayed rectifier potassium current. Loss-of-function variants in …

Cardiac action potentials are characterized by an initial depolarization followed by a
prolonged depolarization, or plateau phase, before a return to the resting potential. In these …

Mutations in KCNH2 can lead to long QT syndrome type 2. Variable disease manifestation
observed with this channelopathy is associated with the location and type of mutation within …

Disease-causing premature termination codons (PTCs) individually disrupt the functional
expression of hundreds of genes and represent a pernicious clinical challenge. In the heart …

Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed
rectifier K+ current and mediate action potential repolarization in the heart. Mutations in …