A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

Cardiovascular Research

Volumn 55, Issue 2, 2002, Pages 279-289

  Valdivia, Carmen R ^a   Ackerman, Michael J ^b   Tester, David J ^b   Wada, Tomoyuki ^a   McCormack, Jorge ^c   Ye, Bin ^a   Makielski, Jonathan C ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b MAYO CLINIC   (United States)

^c Pediatric Cardiology Associates   (United States)

Author keywords

Long QT syndrome; Na channel; Sudden death

Indexed keywords

LIDOCAINE; MEXILETINE; PROPRANOLOL; SODIUM CHANNEL;

ARTICLE; ATRIOVENTRICULAR BLOCK; BRAIN DEATH; CONTROLLED STUDY; DIARRHEA; DNA DETERMINATION; DNA SEQUENCE; GASTROENTERITIS; HUMAN; HUMAN CELL; INFANT; LONG QT SYNDROME; LOW TEMPERATURE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; SODIUM CURRENT; TORSADE DES POINTES; VOLTAGE CLAMP; VOMITING;

ANTI-ARRHYTHMIA AGENTS; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; LONG QT SYNDROME; MALE; MEXILETINE; MUTATION, MISSENSE; SODIUM CHANNELS;

EID: 0036063688     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0008-6363(02)00445-5     Document Type: Article

References (32)

1. Nomenclature of voltage-gated sodium channels
2. The long QT syndrome: Ion channel diseases of the heart
3. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
4. The Brugada syndrome: Ionic basis and arrhythmia mechanisms
5. Recommendations guiding physicians in biomedical research involving human subjects
6. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
7. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
8. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
9. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
10. Population studies and validation of paternity determinations by six microsatellite loci
11. + channels by local anesthetics
12. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block
13. + channels
14. Functional association of the β1 subunit with human cardiac (hH1) and rat skeletal muscle (μ1) sodium channel α subunits expressed in Xenopus oocytes
15. Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects
16. Class I and IV antiarrhythmic drugs and cytosolic calcium regulate mRNA encoding the sodium channel alpha subunit in rat cardiac muscle
17. + channel
18. Molecular mechanism for an inherited cardiac arrhythmia
19. Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
20. A molecular link between the sudden infant death syndrome and the long-QT syndrome
21. De novo mutation in the SCN5A gene associated with early onset of sudden infant death
22. Frequency-dependent reduction of late Na current by ultra-slow recovery in the LQT3 Δ KPQ mutant Na channel
23. + channel blockade and to increase in heart rate: Implications for gene-specific therapy
24. Ventricular tachycardia or conduction disease: What is the mechanism of death associated with SCN5A?
25. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome
26. + channel mutation causing both long-QT and Brugada syndromes
27. Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes
28. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
29. Novel mechanism for Brugada syndrome: Defective surface localization of an SCN5A mutant (R1432G)
30. 2+ current
31. Cellular mechanisms underlying the long QT syndrome
32. Pharmacological targeting of long QT mutant sodium channels