Brugada syndrome: oligogenic or mendelian disease?

MM Monasky, E Micaglio, G Ciconte… - International Journal of …, 2020 - mdpi.com
Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right
precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk …

Sodium channel Nav1.8: Emerging links to human disease

C Han, J Huang, SG Waxman - Neurology, 2016 - AAN Enterprises
The NaV1. 8 sodium channel, encoded by gene SCN10A, was initially termed sensory
neuron–specific (SNS) due to prominent expression in primary sensory neurons including …

Cardiac ion channels

BT Priest, JS McDermott - Channels, 2015 - Taylor & Francis
Ion channels are critical for all aspects of cardiac function, including rhythmicity and
contractility. Consequently, ion channels are key targets for therapeutics aimed at cardiac …

Contactin-2 expression in the cardiac Purkinje fiber network

BA Pallante, S Giovannone, L Fang-Yu… - Circulation …, 2010 - Am Heart Assoc
Background—Purkinje cells (PCs) comprise the most distal component of the cardiac
conduction system, and their unique electrophysiological properties and the anatomic …

A novel selective and orally bioavailable Nav1.8 channel blocker, PF‐01247324, attenuates nociception and sensory neuron excitability

CE Payne, AR Brown, JW Theile… - British journal of …, 2015 - Wiley Online Library
Background and Purpose N a V 1.8 ion channels have been highlighted as important
molecular targets for the design of low MW blockers for the treatment of chronic pain. Here …

Gene regulatory networks in cardiac conduction system development

NV Munshi - Circulation research, 2012 - Am Heart Assoc
The cardiac conduction system is a specialized tract of myocardial cells responsible for
maintaining normal cardiac rhythm. Given its critical role in coordinating cardiac …

Voltage-gated sodium channels in the mammalian heart

T Zimmer, V Haufe, S Blechschmidt - Global Cardiology Science and …, 2015 - qscience.com
Mammalian species express nine functional voltage-gated Na+ channels. Three of them, the
cardiac-specific isoform Nav1. 5 and the neuronal isoforms Nav1. 8 and Nav1. 9, are …

Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science

JC Denny, MD Ritchie, DC Crawford, JS Schildcrout… - Circulation, 2010 - Am Heart Assoc
Background—Recent genome-wide association studies in which selected community
populations are used have identified genomic signals in SCN10A influencing PR duration …

Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction

JCK Man, FM Bosada, KT Scholman, JA Offerhaus… - Circulation, 2021 - Am Heart Assoc
Background: Genetic variants in SCN10A, encoding the neuronal voltage-gated sodium
channel NaV1. 8, are strongly associated with atrial fibrillation, Brugada syndrome, cardiac …

Cardiac sodium channel complexes and arrhythmia: structural and functional roles of the β1 and β3 subunits

SC Salvage, K Jeevaratnam, CLH Huang… - The Journal of …, 2023 - Wiley Online Library
In cardiac myocytes, the voltage‐gated sodium channel NaV1. 5 opens in response to
membrane depolarisation and initiates the action potential. The NaV1. 5 channel is typically …