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A mechanistic link between an inherited and an acquird cardiac arrthytmia: HERG encodes the IKr potassium channel
Mutations in HERG cause an inherited cardiac arrhythmia, long QT syndrome (LQT). To define the function of HERG, we expressed the protein in Xenopus oocytes. The biophysical properties of expressedExpand
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CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
Ca(V)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present Timothy syndrome, a novel disorderExpand
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hERG potassium channels and cardiac arrhythmia
hERG potassium channels are essential for normal electrical activity in the heart. Inherited mutations in the HERG gene cause long QT syndrome, a disorder that predisposes individuals toExpand
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A structural basis for drug-induced long QT syndrome.
Mutations in the HERG K(+) channel gene cause inherited long QT syndrome (LQT), a disorder of cardiac repolarization that predisposes affected individuals to lethal arrhythmias [Curran, M. E. ,Expand
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Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKS potassium channel
THE slowly activating delayed-rectifier K+ current, IKS, modulates the repolarization of cardiac action potentials. The molecular structure of the IKS channel is not known, but physiological dataExpand
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Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel.
The slowly activating delayed-rectifier K+ current, I(Ks), modulates the repolarization of cardiac action potentials. The molecular structure of the I(Ks) channel is not known, but physiological dataExpand
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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittentExpand
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Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death
Background— Cardiac ion channelopathies are responsible for an ever-increasing number and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that consists of anExpand
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Molecular and Cellular Mechanisms of Cardiac Arrhythmias
We thank I. Splawski for advice, D. Atkinson for help preparing figures, and L. Morelli for assistance preparing the manuscript.
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Mutations in the hminK gene cause long QT syndrome and suppress lKs function
Ion-channel β-subunits are ancillary proteins that co-assemble with α-subunits to modulate the gating kinetics and enhance stability of multimeric channel complexes1,2. Despite their functionalExpand
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