Novel mutations in domain I of SCN5A cause Brugada syndrome

Molecular Genetics and Metabolism

Volumn 75, Issue 4, 2002, Pages 317-324

  Vatta, Matteo ^a   Dumaine, Robert ^b   Antzelevitch, Charles ^b   Brugada, Ramon ^a   Li, Hua ^a   Bowles, Neil E ^a   Nademanee, Koonlawee ^c   Brugada, Josep ^d   Brugada, Pedro ^e   Towbin, Jeffrey A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d UNIVERSITY OF BARCELONA   (Spain)

^e OLV HOSPITAL   (Belgium)

Author keywords

Brugada syndrome; Mutation; Sodium channels; Ventricular fibrillation

Indexed keywords

DNA; GLUTAMIC ACID; GLYCINE; LYSINE; SODIUM CHANNEL; VALINE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BINDING SITE; BRUGADA SYNDROME; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; EXON; FAMILY; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HEART VENTRICLE ARRHYTHMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MEMBRANE POTENTIAL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANIMALS; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GENE DELETION; HUMANS; MEMBRANE POTENTIALS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS; SYNDROME; VENTRICULAR FIBRILLATION; XENOPUS;

EID: 18544378014     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00006-9     Document Type: Article

References (29)

1. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report
2. Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death
3. The Brugada syndrome: Clinical, electrophysiologic and genetic aspects
4. Ion channels and ventricular arrhythmias: Cellular and ionic mechanisms underlying the Brugada syndrome
5. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
6. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men
7. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
8. Multiple mechanisms of Na+ channel-linked long-QT syndrome
9. Molecular mechanism for an inherited cardiac arrhythmia
10. Cardiac conduction defects associate with mutations in SCN5A
11. A sodium-channel mutation causes isolated cardiac conduction disease
12. A molecular link between the sudden infant death syndrome and the long-QT syndrome
13. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
14. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
15. A single Na(+) channel mutation causing both long-QT and Brugada syndromes
16. Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes
17. Enhanced Na(+) channel intermediate inactivation in Brugada syndrome
18. "Brugada" syndrome: Clinical data and suggested pathophysiological mechanism
19. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families
20. Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts
21. A routine method for the establishment of permanent growing lymphoblastoid cell lines
22. Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1
23. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
24. Effects of III-IV linker mutations on human heart Na+ channel inactivation gating
25. Two conformational states involved in the use-dependent TTX blockade of human cardiac Na+ channel
26. Structure and function of voltage-gated sodium channels
27. Brugada syndrome and sudden cardiac death in children
28. Molecular biology of arrhythmic syndromes
29. Cardiac arrhythmias: The genetic connection