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Article

Brugada Syndrome Caused by Sodium Channel Dysfunction Associated with a SCN1B Variant A197V.

Archives of medical research - 1 Apr 2020

Wang Linlin, Han Zhonglin, Dai Jian, Cao Kejiang

Abstract excerpt

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 potential causative genes in 8 unrelated clinically diagnosed BrS patients. A197V variant was only detected in exon 4 of SCN...

Topics

Adult
Brugada Syndrome
Female
HEK293 Cells
Humans
Male
Middle Aged
Mutation
NAV1.5 Voltage-Gated Sodium Channel
Patch-Clamp Techniques
Voltage-Gated Sodium Channel beta-1 Subunit
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32192759
DOI: 10.1016/j.arcmed.2020.02.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-32192759-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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