Inherited cardiac arrhythmias

PJ Schwartz, MJ Ackerman, C Antzelevitch… - Nature reviews Disease …, 2020 - nature.com
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome,
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …

CLC chloride channels and transporters: structure, function, physiology, and disease

TJ Jentsch, M Pusch - Physiological reviews, 2018 - journals.physiology.org
CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Current insights in noise-induced hearing loss: a literature review of the underlying mechanism, pathophysiology, asymmetry, and management options

TN Le, LV Straatman, J Lea… - … of otolaryngology-head …, 2017 - journals.sagepub.com
Background Noise-induced hearing loss is one of the most common forms of sensorineural
hearing loss, is a major health problem, is largely preventable and is probably more …

Genetics of sudden cardiac death

CR Bezzina, N Lahrouchi, SG Priori - Circulation research, 2015 - Am Heart Assoc
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important
cause of mortality in the general population. Genetic studies conducted during the past 20 …

CaV1. 2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

I Splawski, KW Timothy, LM Sharpe, N Decher… - Cell, 2004 - cell.com
Abstract 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 …

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

NA Singh, C Charlier, D Stauffer, BR DuPont… - Nature …, 1998 - nature.com
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and
commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a …

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 - Am Heart Assoc
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] Ion channels in the heart

DC Bartos, E Grandi, CM Ripplinger - Comprehensive physiology, 2015 - ncbi.nlm.nih.gov
Optimal cardiac function depends on proper timing of excitation and contraction in various
regions of the heart, as well as on appropriate heart rate. This is accomplished via …

The long QT syndrome

PJ Schwartz - Current problems in cardiology, 1997 - Elsevier
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