Article ; Online: Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome.
2020 Volume 41, Issue 12, Page(s) 2195–2204
Abstract: The identification of a pathogenic SCN5A variant confers an increased risk of conduction defects and ventricular arrhythmias (VA) in Brugada syndrome (BrS). However, specific aspects of sodium channel function that influence clinical phenotype have not ... ...
Abstract | The identification of a pathogenic SCN5A variant confers an increased risk of conduction defects and ventricular arrhythmias (VA) in Brugada syndrome (BrS). However, specific aspects of sodium channel function that influence clinical phenotype have not been defined. A systematic literature search identified SCN5A variants associated with BrS. Sodium current (I |
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MeSH term(s) | Arrhythmias, Cardiac/genetics ; Brugada Syndrome/diagnostic imaging ; Brugada Syndrome/genetics ; Brugada Syndrome/pathology ; Electrocardiography ; Heart Conduction System/pathology ; Humans ; Mutation/genetics ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; Phenotype |
Chemical Substances | NAV1.5 Voltage-Gated Sodium Channel ; SCN5A protein, human |
Language | English |
Publishing date | 2020-11-11 |
Publishing country | United States |
Document type | Journal Article ; Research Support, Non-U.S. Gov't |
ZDB-ID | 1126646-6 |
ISSN | 1098-1004 ; 1059-7794 |
ISSN (online) | 1098-1004 |
ISSN | 1059-7794 |
DOI | 10.1002/humu.24128 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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