The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
About this item
Full title
Author / Creator
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, Jr, Alfred L and Roden, Dan M
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 elucidated. To investigate the basis for this overla...
Alternative Titles
Full title
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
Authors, Artists and Contributors
Author / Creator
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, Jr, Alfred L
Roden, Dan M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2350431
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2350431
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI34057
