Calcium signaling and cardiac arrhythmias
There has been a significant progress in our understanding of the molecular mechanisms by
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …
Brugada syndrome and reduced right ventricular outflow tract conduction reserve: a final common pathway?
ER Behr, Y Ben-Haim, MJ Ackerman… - European heart …, 2021 - academic.oup.com
Brugada syndrome (BrS) was first described as a primary electrical disorder predisposing to
the risk of sudden cardiac death and characterized by right precordial lead ST elevation …
the risk of sudden cardiac death and characterized by right precordial lead ST elevation …
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
TM Olson, VV Michels, JD Ballew, SP Reyna, ML Karst… - Jama, 2005 - jamanetwork.com
ContextDilated cardiomyopathy (DCM), a genetically heterogeneous disorder, causes heart
failure and rhythm disturbances. The majority of identified DCM genes encode structural …
failure and rhythm disturbances. The majority of identified DCM genes encode structural …
Brugada syndrome
Y Mizusawa, AAM Wilde - Circulation: Arrhythmia and …, 2012 - Am Heart Assoc
A single mutation of SCN5A can lead to several phenotypes in the same family or in a single
patient, such as BrS, long-QT-syndrome type 3, sick sinus syndrome, and a variable degree …
patient, such as BrS, long-QT-syndrome type 3, sick sinus syndrome, and a variable degree …
Inherited disorders of voltage-gated sodium channels
AL George - The Journal of clinical investigation, 2005 - Am Soc Clin Investig
A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm,
and nervous system function have been traced to mutations in genes encoding voltage …
and nervous system function have been traced to mutations in genes encoding voltage …
SCN5A Variants: Association With Cardiac Disorders
W Li, L Yin, C Shen, K Hu, J Ge, A Sun - Frontiers in physiology, 2018 - frontiersin.org
The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Nav1. 5.
This channel predominates inward sodium current (INa) and plays a critical role in …
This channel predominates inward sodium current (INa) and plays a critical role in …
The cardiac sodium channel gene SCN5A and its gene product NaV1. 5: Role in physiology and pathophysiology
CC Veerman, AAM Wilde, EM Lodder - Gene, 2015 - Elsevier
The gene SCN5A encodes the main cardiac sodium channel Na V 1.5. This channel
predominates the cardiac sodium current, I Na, which underlies the fast upstroke of the …
predominates the cardiac sodium current, I Na, which underlies the fast upstroke of the …
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia
Hyperpolarization-activated cyclic nucleotide-gated channel 4 gene HCN4 is a pacemaker
channel that plays a key role in automaticity of sinus node in the heart, and an HCN4 …
channel that plays a key role in automaticity of sinus node in the heart, and an HCN4 …
[HTML][HTML] Genetics of Brugada syndrome
JMJ Juang, M Horie - Journal of arrhythmia, 2016 - Elsevier
Abstract In 1992, the Brugada syndrome (BrS) was recognized as a disease responsible for
sudden cardiac death, characterized by a right bundle-branch block with ST segment …
sudden cardiac death, characterized by a right bundle-branch block with ST segment …
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
K Kamiya, M Kaneda, T Sugawara… - Journal of …, 2004 - Soc Neuroscience
Mutations, exclusively missense, of voltage-gated sodium channel α subunit type 1 (SCN1A)
and type 2 (SCN2A) genes were reported in patients with idiopathic epilepsy: generalized …
and type 2 (SCN2A) genes were reported in patients with idiopathic epilepsy: generalized …