[HTML][HTML] Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from …

N Salvarani, G Peretto, C Silvia, A Villatore… - International Journal of …, 2023 - mdpi.com
Brugada syndrome (BrS) is an inherited autosomal dominant cardiac channelopathy.
Pathogenic rare mutations in the SCN5A gene, encoding the alpha-subunit of the voltage …

[HTML][HTML] Studying Brugada syndrome with an SCN1B variants in human-induced pluripotent stem cell-derived cardiomyocytes

I El-Battrawy, J Müller, Z Zhao, L Cyganek… - Frontiers in Cell and …, 2019 - frontiersin.org
Background Among rare channelopathies BrS patients are at high risk of sudden cardiac
death (SCD). SCN5A mutations are found in a quarter of patients. Other rare gene mutations …

[HTML][HTML] Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome

S Okata, S Yuasa, T Suzuki, S Ito, N Makita… - Scientific reports, 2016 - nature.com
SCN5A is abundant in heart and has a major role in I Na. Loss-of-function mutation in
SCN5A results in Brugada syndrome (BrS), which causes sudden death in adults. It remains …

Loss of sodium current caused by a Brugada syndrome–associated variant is determined by patient-specific genetic background

R Martínez-Moreno, D Carreras, G Sarquella-Brugada… - Heart Rhythm, 2024 - Elsevier
Abstract Background Brugada syndrome (BrS) is an inherited cardiac arrhythmogenic
disease that predisposes patients to sudden cardiac death. It is associated with mutations in …

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

R Walsh, J Mauleekoonphairoj, I Mengarelli… - medRxiv, 2023 - medrxiv.org
Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in
young adults. Rare genetic variants in the SCN5A gene, encoding the Nav1. 5 sodium …

A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes

I El-Battrawy, S Albers, L Cyganek, Z Zhao, H Lan… - EP …, 2019 - academic.oup.com
Abstract Aims Brugada syndrome (BrS) is associated with a pronounced risk to develop
sudden cardiac death (SCD). Up to 21% of patients are related to mutations in SCN5A …

[HTML][HTML] Comparing human iPSC-cardiomyocytes versus HEK293T cells unveils disease-causing effects of Brugada mutation A735V of NaV1.5 sodium channels

J de la Roche, P Angsutararux, H Kempf, M Janan… - Scientific reports, 2019 - nature.com
Loss-of-function mutations of the SCN5A gene encoding for the sodium channel α-subunit
NaV1. 5 result in the autosomal dominant hereditary disease Brugada Syndrome (BrS) with …

[HTML][HTML] Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families

N Molitor, A Medeiros-Domingo, S Fokstuen… - Journal of Clinical …, 2022 - mdpi.com
The cardiac sodium channel (Nav1. 5) controls cardiac excitability by triggering the action
potential of cardiac myocytes and controlling electric impulse transmission. However, it has …

[HTML][HTML] Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated …

S Li, S Fraser, G Ranpura, S Lim, ES Singer… - Stem Cell Research, 2023 - Elsevier
Variants in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) produce
variable cardiac phenotypes including Brugada syndrome, conduction disease and …

[HTML][HTML] Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Nav1. 5-subunit mutations

Y Zhu, L Wang, C Cui, H Qin, H Chen… - Journal of Biomedical …, 2021 - ncbi.nlm.nih.gov
Brugada syndrome (BrS) is a complex genetic cardiac ion channel disease that causes a
high predisposition to sudden cardiac death. Considering that its heterogeneity in clinical …