The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Multiple Mechanisms of Na + Channel– Linked Long-QT Syndrome
Abstract
Abstract Inheritable long-QT syndrome (LQTS) is a disease in which delayed ventricular repolarization leads to cardiac arrhythmias and the possibility of sudden death. In the chromosome 3–linked disease, one mutation of the cardiac Na + channel gene results in a deletion of residues 1505 to 1507 (ΔKPQ), and two mutations result in substitutions (N1325S and R1644H). We compared all three mutant-channel phenotypes by heterologous expression in Xenopus oocytes. Each produced a late phase of inactivation-resistant, mexiletine- and tetrodotoxin-sensitive whole-cell currents, but the underlying mechanisms were different at the single-channel level. N1325S and R1644H showed dispersed reopenings after the initial transient, whereas ΔKPQ showed both dispersed reopenings and long-lasting bursts. Thus, two distinct biophysical defects underlie the in vitro phenotype of persistent current in Na + channel–linked LQTS, and the additive effects of both are responsible for making the ΔKPQ phenotype the most severe.
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Cited by
Long-QT Syndrome: From Genetics to Management
Schwartz, P. J., Crotti, L., & Insolia, R. (2012) · Circulation: Arrhythmia and Electrophysiology · doi:10.1161/circep.111.962019 · Cited by 659
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Inherited disorders of voltage-gated sodium channels
George, A. L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25505 · Cited by 365
Marbán, E. (2002) · Nature · doi:10.1038/415213a · Cited by 328
Metadata
- Authors
- Dumaine, R., Wang, Q., Keating, M. T., Hartmann, H. A., Schwartz, P. J., Brown, A. M., & Kirsch, G. E.
- Venue
- Circulation Research
- Published
- 1996-05
- Volume
- 78
- Issue
- 5
- Pages
- 916-924
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- OpenAlex
- W2051237605
- Cited by
- 344
- References
- 48
- FWCI
- 19.37
- Type
- journal article
- Language
- en
- Open access
- closed
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- Dumaine, R., Wang, Q., Keating, M. T., Hartmann, H. A., Schwartz, P. J., Brown, A. M., & Kirsch, G. E. (1996). Multiple Mechanisms of Na + Channel– Linked Long-QT Syndrome. Circulation Research. https://doi.org/10.1161/01.res.78.5.916
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
