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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden …
[HTML][HTML] Ion channels in the heart
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 …
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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