In this case report, we characterize a novel inherited frameshift mutation c. 4700_4701del (p.
Phe1567Cysfs* 221) in a single copy of the SCN5A gene and its association with Brugada …

Background Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome
(BrS). Recent evidence suggested that common genetic variations may underlie BrS in a …

Brugada syndrome is an inherited arrhythmia syndrome predisposing to sudden cardiac
death. Six years after its initial description as a clinical entity, the first mutations in SCN5A …

Background/Purpose Brugada syndrome (BrS) is a hereditable sudden cardiac death
(SCD). Mutations in the SCN5A gene (the most common BrS-causing gene) are responsible …

BACKGROUND: Brugada syndrome is an inheritable arrhythmia condition that is associated
with rare, loss-of-function variants in SCN5A. Interpreting the pathogenicity of SCN5A …

Background: SCN5A with Brugada syndrome (BrS) is not commonly considered as an
independent risk marker for subsequent cardiac events. However, the risk of SCN5A …

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical
management of patients in the majority of cases, due to the current lack of understanding …

Loss-of-function mutations in the cardiac Na+ channel α-subunit Nav1. 5, encoded by
SCN5A, cause Brugada syndrome (BrS), a hereditary disease characterized by sudden …

Whether the presence of SCN5A mutation is a predictor of BrS risk remains controversial,
and patient selection bias may have weakened previous findings. Therefore, we performed …

Objective We aimed to identify and characterize a SCN1B variant, A197V, associated with
Brugada Syndrome (BrS). Methods Whole-exome sequencing was employed to explore the …