Neuronal KCNQ potassium channels: physislogy and role in disease

TJ Jentsch - Nature Reviews Neuroscience, 2000 - nature.com
Humans have over 70 potassium channel genes, but only some of these have been linked
to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations …

The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

KCNQ1 gain-of-function mutation in familial atrial fibrillation

YH Chen, SJ Xu, S Bendahhou, XL Wang, Y Wang… - Science, 2003 - science.org
Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly
understood. We studied a family with hereditary persistent AF and identified the causative …

A potassium channel mutation in neonatal human epilepsy

C Biervert, BC Schroeder, C Kubisch, SF Berkovic… - Science, 1998 - science.org
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy,
with loci mapped to human chromosomes 20q13. 3 and 8q24. By positional cloning, a …

Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

I Splawski, J Shen, KW Timothy, MH Lehmann… - Circulation, 2000 - ahajournals.org
Background—Long-QT Syndrome (LQTS) is a cardiovascular disorder characterized by
prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden …

[HTML][HTML] KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

C Kubisch, BC Schroeder, T Friedrich, B Lütjohann… - Cell, 1999 - cell.com
Potassium channels regulate electrical signaling and the ionic composition of biological
fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene …

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus

K Yasuda, K Miyake, Y Horikawa, K Hara, H Osawa… - Nature …, 2008 - nature.com
We carried out a multistage genome-wide association study of type 2 diabetes mellitus in
Japanese individuals, with a total of 1,612 cases and 1,424 controls and 100,000 SNPs. The …

Molecular pathophysiology of congenital long QT syndrome

MS Bohnen, G Peng, SH Robey… - Physiological …, 2017 - journals.physiology.org
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 …

Molecular bioelectricity: how endogenous voltage potentials control cell behavior and instruct pattern regulation in vivo

M Levin - Molecular biology of the cell, 2014 - molbiolcell.org
In addition to biochemical gradients and transcriptional networks, cell behavior is regulated
by endogenous bioelectrical cues originating in the activity of ion channels and pumps …

Voltage-gated ion channels and hereditary disease

F Lehmann-Horn, K Jurkat-Rott - Physiological reviews, 1999 - journals.physiology.org
By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …