Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy

AAM Wilde, AS Amin - JACC: Clinical Electrophysiology, 2018 - jacc.org
SCN5A gene encodes the pore-forming ion-conducting α-subunit of the cardiac sodium
channel (Nav1. 5), which is responsible for the initiation and propagation of action potentials …

Arrhythmias as presentation of genetic cardiomyopathy

J Lukas Laws, MC Lancaster… - Circulation …, 2022 - Am Heart Assoc
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …

[HTML][HTML] Structure of the cardiac sodium channel

D Jiang, H Shi, L Tonggu, TMG El-Din, MJ Lenaeus… - Cell, 2020 - cell.com
Voltage-gated sodium channel Na v 1.5 generates cardiac action potentials and initiates the
heartbeat. Here, we report structures of Na V 1.5 at 3.2–3.5 Å resolution. Na V 1.5 is …

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 …

Voltage gated sodium and calcium channels: Discovery, structure, function, and Pharmacology

WA Catterall - Channels, 2023 - Taylor & Francis
Voltage-gated sodium channels initiate action potentials in nerve and muscle, and voltage-
gated calcium channels couple depolarization of the plasma membrane to intracellular …

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies

J Striessnig - Frontiers in synaptic neuroscience, 2021 - frontiersin.org
This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …

Fifty years of gating currents and channel gating

L Catacuzzeno, F Conti, F Franciolini - Journal of General Physiology, 2023 - rupress.org
We celebrate this year the 50th anniversary of the first electrophysiological recordings of the
gating currents from voltage-dependent ion channels done in 1973. This retrospective tries …

Mechanisms underlying dilated cardiomyopathy associated with FKBP12 deficiency

AD Hanna, T Chang, KS Ho, RSZ Yee… - Journal of General …, 2025 - rupress.org
Dilated cardiomyopathy (DCM) is a highly prevalent and genetically heterogeneous
condition that results in decreased contractility and impaired cardiac function. The FK506 …

Structural basis for gating pore current in periodic paralysis

D Jiang, TM Gamal El-Din, C Ing, P Lu, R Pomes… - Nature, 2018 - nature.com
Potassium-sensitive hypokalaemic and normokalaemic periodic paralysis are inherited
skeletal muscle diseases characterized by episodes of flaccid muscle weakness,. They are …

Genetic basis of dilated cardiomyopathy

A Pérez-Serra, R Toro, G Sarquella-Brugada… - International journal of …, 2016 - Elsevier
Dilated cardiomyopathy is a rare cardiac disease characterized by left ventricular dilatation
and systolic dysfunction leading to heart failure and sudden cardiac death. Currently …