PuSH - Publication Server of Helmholtz Zentrum München: Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

EVA: Electronic Publishing

New EVA Application

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Watanabe, H.* ; Koopmann, T.T.* ; Le, Scouarnec, S.* ; Yang, T.* ; Ingram, C.R.* ; Schott, J.J.* ; Demolombe, S.* ; Probst, V.* ; Anselme, F.* ; Escande, D.* ; Wiesfeld, A.C.* ; Pfeufer, A. ; Kääb, S.* ; Wichmann, H.-E. ; Hasdemir, C.* ; Aizawa, Y.* ; Wilde, A.A.* ; Roden, D.M.* ; Bezzina, C.R.*

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.

J. Clin. Invest. 118, 2260-2268 (2008)

Publ. Version/Full Text Volltext

DOI

PMC

	Open Access Gold

Abstract
Metrics
Extra information

Brugada syndrome is a genetic disease associated with sudden cardiac death that is characterized by ventricular fibrillation and right precordial ST segment elevation on ECG. Loss-of-function mutations in SCN5A, which encodes the predominant cardiac sodium channel alpha subunit NaV1.5, can cause Brugada syndrome and cardiac conduction disease. However, SCN5A mutations are not detected in the majority of patients with these syndromes, suggesting that other genes can cause or modify presentation of these disorders. Here, we investigated SCN1B, which encodes the function-modifying sodium channel beta1 subunit, in 282 probands with Brugada syndrome and in 44 patients with conduction disease, none of whom had SCN5A mutations. We identified 3 mutations segregating with arrhythmia in 3 kindreds. Two of these mutations were located in a newly described alternately processed transcript, beta1B. Both the canonical and alternately processed transcripts were expressed in the human heart and were expressed to a greater degree in Purkinje fibers than in heart muscle, consistent with the clinical presentation of conduction disease. Sodium current was lower when NaV1.5 was coexpressed with mutant beta1 or beta1B subunits than when it was coexpressed with WT subunits. These findings implicate SCN1B as a disease gene for human arrhythmia susceptibility.

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

16.915

4.120

309

358