De novo mutation in the SCN5A gene associated with early onset of sudden infant death

Circulation

Volumn 104, Issue 10, 2001, Pages 1158-1164

  Wedekind, Horst ^a   Smits, Jeroen P P ^c   Schulze Bahr, Eric ^a   Arnold, Raoul ^b   Veldkamp, Marieke W ^c   Bajanowski, Thomas ^a   Borggrefe, Martin ^a   Brinkmann, Bernd ^a   Warnecke, Irene ^b   Funke, Harald ^a   Bhuiyan, Zahurul A ^c   Wilde, Arthur A M ^c   Breithardt, Günter ^a   Haverkamp, Wilhelm ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF MANNHEIM   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Arrhythmia; Death, sudden; Genes; Long QT syndrome; Sodium

Indexed keywords

SODIUM CHANNEL;

ARTICLE; CASE REPORT; ELECTROCARDIOGRAM; GENE MUTATION; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN CELL; INFANT; LONG QT SYNDROME; MALE; MISSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SUDDEN INFANT DEATH SYNDROME; VOLTAGE CLAMP;

EID: 0035806944     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/hc3501.095361     Document Type: Article

References (36)

1. The long QT syndromes: Genetic basis and clinical implications
2. The long QT syndrome in children: An international study of 287 patients
3. Prolongation of the QT interval and the sudden infant death syndrome
4. A molecular link between the sudden infant death syndrome and the long-QT syndrome
5. Brugada syndrome and sudden cardiac death in children
6. Molecular diagnosis in victims of sudden infant death syndrome
7. SIDS epidemiology and incidence
8. The long-QT syndrome: Current status of molecular mechanisms
9. Spectrum of mutation in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
10. Influence of the genotype on the clinical course of the long-QT syndrome: International Long-QT Syndrome Registry Research Group
11. Simple and rapid preparation of samples for PCR
12. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
13. Genomic structure of three long QT syndrome genes: KVLQTI, HERG, and KCNEI
14. "Touchdown" PCR to circumvent spurious probing during gene amplification
15. + channels
16. An analysis of the time-relations of electrocardiograms
17. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome
18. Multiple mechanisms in the long QT syndrome: Current knowledge, gaps, and future directions: The SADS Foundation Task Force on LQTS
19. Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
20. Ventricular tachycardia and ventricular fibrillation in a young population
21. Prolonged QT interval and cardiac arrhythmias in two neonates: Sudden infant death syndrome on one case
22. Sudden cardiac death in children
23. Molecular basis of charge movement in voltage-gated sodium channels
24. + channel activity through interactions between α and β-subunits
25. Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes
26. + channel
27. Phenotypic characterization of a novel Long-QT syndrome mutation (RI623Q) in the cardiac sodium channel
28. + channel exhibiting novel molecular mechanism of long QT syndrome
29. Molecular mechanism for an inherited cardiac arrhythmia
30. + channel-linked long-QT syndrome
31. + channel
32. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
33. Arrhythmogenic mechanism of an LQT-3 mutation of the human heart Na channel α-subunit: A computational analysis
34. Prolonged QT interval in neonates: Benign, transient, or prolonged risk of sudden death
35. Prenatal findings in patients with prolonged QT interval in the neonatal period