A Novel and Lethal De Novo LQT-3 Mutation in a Newborn with Distinct Molecular Pharmacology and Therapeutic Response

BACKGROUND: SCN5A encodes the α-subunit (Na(v)1.5) of the principle Na(+) channel in the human heart. Genetic lesions in SCN5A can cause congenital long QT syndrome (LQTS) variant 3 (LQT-3) in adults by disrupting inactivation of the Na(v)1.5 channel. Pharmacological targeting of mutation-altered Na...

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Detalles Bibliográficos
Autores principales: Bankston, John R., Yue, Minerva, Chung, Wendy, Spyres, Meghan, Pass, Robert H., Silver, Eric, Sampson, Kevin J., Kass, Robert S.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082660/
https://www.ncbi.nlm.nih.gov/pubmed/18060054
http://dx.doi.org/10.1371/journal.pone.0001258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082660/
https://www.ncbi.nlm.nih.gov/pubmed/18060054
http://dx.doi.org/10.1371/journal.pone.0001258

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