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Article

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

The Journal of clinical investigation - 1 Jun 2008

Makita Naomasa, Behr Elijah, Shimizu Wataru, Horie Minoru, Sunami Akihiko, Crotti Lia, Schulze-Bahr Eric, Fukuhara Shigetomo, Mochizuki Naoki, Makiyama Takeru, Itoh Hideki, Christiansen Michael, McKeown Pascal, Miyamoto Koji, Kamakura Shiro, Tsutsui Hiroyuki, Schwartz Peter J, George Alfred L, Roden Dan M

Abstract excerpt

Phenotypic overlap of type 3 long QT syndrome (LQT3) with Brugada syndrome (BrS) is observed in some carriers of mutations in the Na channel SCN5A. While this overlap is important for patient management, the clinical features, prevalence, and mechanisms underlying such overlap have not been fully...

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Identifiers

PMID: 18451998
DOI: 10.1172/JCI34057
PMCID: PMC2350431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18451998-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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