Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.

doi:10.1016/j.yjmcc.2009.01.014

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Article

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.

Journal of molecular and cellular cardiology - 1 May 2009

Cordeiro Jonathan M, Marieb Mark, Pfeiffer Ryan, Calloe Kirstine, Burashnikov Elena, Antzelevitch Charles

Abstract excerpt

Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with BrS in which loss of function is caused by accelerated inactivation of I(Ca). The proband, a 32 year old male, displayed a Type...

Topics

Adult
Animals
Base Sequence
Brugada Syndrome
Calcium Channels, L-Type
DNA Mutational Analysis
Dogs
Humans
Ion Channel Gating
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutant Proteins

Mutation

Patch-Clamp Techniques

Time Factors

Ultrasonography

Source

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Identifiers

PMID: 19358333
DOI: 10.1016/j.yjmcc.2009.01.014
PMCID: PMC2668128

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19358333-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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