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Article

A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.

Journal of the American College of Cardiology - 14 Oct 2008

Makiyama Takeru, Akao Masaharu, Shizuta Satoshi, Doi Takahiro, Nishiyama Kei, Oka Yuko, Ohno Seiko, Nishio Yukiko, Tsuji Keiko, Itoh Hideki, Kimura Takeshi, Kita Toru, Horie Minoru

Abstract excerpt

OBJECTIVES: This study describes a novel heterozygous gain-of-function mutation in the cardiac sodium (Na+) channel gene, SCN5A, identified in a Japanese family with lone atrial fibrillation (AF). BACKGROUND: SCN5A mutations have been associated with a variety of inherited arrhythmias, but the gain-of-function type modulation in SCN5A is associated with only 1 phenotype, long-QT syndrome type 3 (LQTS3). METHODS:...

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Identifiers

PMID: 18929244
DOI: 10.1016/j.jacc.2008.07.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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