Gene variant effects across sodium channelopathies predict function and guide precision therapy

A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Roles for countercharge in the voltage sensor domain of ion channels

JR Groome, L Bayless-Edwards - Frontiers in Pharmacology, 2020 - frontiersin.org
Voltage-gated ion channels share a common structure typified by peripheral, voltage sensor
domains. Their S4 segments respond to alteration in membrane potential with translocation …

Biophysical mechanisms of myocardium sodium channelopathies

AK Zaytseva, OE Kulichik, AA Kostareva… - Pflügers Archiv-European …, 2024 - Springer
Genetic variants of gene SCN5A encoding the alpha-subunit of cardiac voltage-gated
sodium channel Nav1. 5 are associated with various diseases, including long QT syndrome …

Ventricular voltage‐gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation

L Chen, Y He, X Wang, J Ge, H Li - Clinical and Translational …, 2021 - Wiley Online Library
Cardiac voltage‐gated ion channels (VGICs) play critical roles in mediating cardiac
electrophysiological signals, such as action potentials, to maintain normal heart excitability …

Kilohertz waveforms optimized to produce closed-state Na+ channel inactivation eliminate onset response in nerve conduction block

G Yi, WM Grill - PLoS computational biology, 2020 - journals.plos.org
The delivery of kilohertz frequency alternating current (KHFAC) generates rapid, controlled,
and reversible conduction block in motor, sensory, and autonomic nerves, but causes …

Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation

T Nakajima, Y Kaneko, T Dharmawan, M Kurabayashi - Channels, 2019 - Taylor & Francis
ABSTRACT The segment 4 (S4) voltage sensor in voltage-gated sodium channels (Navs)
have domain-specific functions, and the S4 segment in domain DIV (DIVS4) plays a key role …

Multiple arrhythmic and cardiomyopathic phenotypes associated with an SCN5A A735E mutation

T Sasaki, K Ikeda, T Nakajima… - Journal of …, 2021 - Elsevier
Background SCN5A mutations are associated with multiple arrhythmic and cardiomyopathic
phenotypes including Brugada syndrome (BrS), sinus node dysfunction (SND) …

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

T Nakajima, R Kawabata-Iwakawa, S Tamura… - PLoS …, 2022 - journals.plos.org
Background Gain-of-function mutations in CACNA1C encoding Cav1. 2 cause syndromic or
non-syndromic type-8 long QT syndrome (LQTS)(sLQT8 or nsLQT8). The cytoplasmic …

Biophysical defects of an SCN5A V1667I mutation associated with epinephrine‐induced marked QT prolongation

T Nakajima, T Dharmawan… - Journal of …, 2020 - Wiley Online Library
Background The epinephrine infusion test (EIT) typically induces marked QT prolongation in
LQT1, but not LQT3, while the efficacy of β‐blocker therapy is established in LQT1, but not …

Analysis of Slow Inactivation of Nav1.5 Channels in the Development of Hereditary Heart Pathology

AK Zaitseva, KI Perepelina, AA Kostareva - Cell and Tissue Biology, 2024 - Springer
Abstract Cardiac voltage-gated Nav1. 5 sodium channels are responsible for initiation and
propagation of action potentials in cardiomyocytes. Nav1. 5 dysfunction may be due to both …