Dysfunctional Nav1. 5 channels due to SCN5A mutations

D Han, H Tan, C Sun, G Li - Experimental Biology and …, 2018 - journals.sagepub.com
The voltage-gated sodium channel 1.5 (Nav1. 5), encoded by the SCN5A gene, is
responsible for the rising phase of the action potential of cardiomyocytes. The sodium …

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 …

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

T Ishikawa, H Kimoto, H Mishima… - European heart …, 2021 - academic.oup.com
Aims The prognostic value of genetic variants for predicting lethal arrhythmic events (LAEs)
in Brugada syndrome (BrS) remains controversial. We investigated whether the functional …

Drug-induced fatal arrhythmias: Acquired long QT and Brugada syndromes

I Turker, T Ai, H Itoh, M Horie - Pharmacology & therapeutics, 2017 - Elsevier
Since the early 1990s, the concept of primary “inherited” arrhythmia syndromes or ion
channelopathies has evolved rapidly as a result of revolutionary progresses made in …

Update on risk factors and biomarkers of sudden unexplained cardiac death

J Lou, H Chen, S Huang, P Chen, Y Yu… - Journal of Forensic and …, 2022 - Elsevier
Sudden cardiac death (SCD) accounts for approximately 15%–20% of all deaths worldwide,
the causes of which are mainly structural heart diseases. However, SCD also occurs in …

[HTML][HTML] Induced Brugada syndrome: Possible sources of arrhythmogenesis

G Tomé, J Freitas - Revista Portuguesa de Cardiologia, 2017 - Elsevier
Brugada syndrome is an inherited cardiac condition with the potential for development of life-
threatening arrhythmias in relatively young individuals without significant structural cardiac …

Machine learning-based QSAR Models to Predict Sodium Ion Channel (Nav 1.5) Blockers

N Khalifa, LS Kumar Konda… - Future Medicinal Chemistry, 2020 - Taylor & Francis
Aim: Conventional experimental approaches used for the evaluation of the proarrhythmic
potential of compounds in the drug discovery process are expensive and time consuming …

Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells

I Turker, T Makiyama, T Ueyama… - Pacing and Clinical …, 2020 - Wiley Online Library
Background Telethonin (TCAP) is a Z‐disk protein that maintains cytoskeletal integrity and
various signaling pathways in cardiomyocytes. TCAP is shown to modulate α‐subunit of the …

[HTML][HTML] Brugada 综合征SCN5A 基因G1712C 突变的功能分析

陈燕玉, 刘深荣, 谢亮真, 朱庭延, 陈益臻… - Journal of Southern …, 2017 - ncbi.nlm.nih.gov
目的探讨Brugada 综合征SCN5A 基因新突变G1712C 的电生理机制. 方法采用体外定点诱变法
构建携带有基因突变G1712C 的pRc/CMV-hH1 的表达载体, lipo3000 脂质转染法建立稳定表达 …

Functional analysis of a novel SCN5A mutation G1712C identified in Brugada syndrome

YY Chen, SR Liu, LZ Xie, TY Zhu, YZ Chen… - … Fang yi ke da xue xue …, 2016 - europepmc.org
Objective To elucidate the molecular and electrophysiological mechanisms of Brugada
syndrome through functional analysis of a novel SCN5A gene mutation G1712C. Methods A …