Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.

Abstract

Patients with C-loop missense mutations in the KCNQ1 channel exhibit a high risk for life-threatening events and derive a pronounced benefit from treatment with β-blockers. Reduced channel activation after sympathetic activation can explain the increased clinical risk and response to therapy in patients with C-loop mutations.

Full Text

• DOI - Circulation (DOI)
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Subjects

• Adolescent
• Adrenergic beta-Antagonists
• Adult
• Child
• Female
• Genetic Predisposition to Disease
• Heart Arrest
• Humans
• KCNQ1 Potassium Channel
• Male
• Mutation
• Risk
• Romano-Ward Syndrome
• Treatment Outcome
• Young Adult

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Authors

• Alon Barsheshet
• Ilan Goldenberg
• Jin O-Uchi
• Arthur J Moss
• Christian Jons
• Wataru Shimizu
• Arthur A Wilde
• Scott McNitt
• Derick R Peterson
• Wojciech Zareba
• Jennifer L Robinson
• Michael J Ackerman
• Michael Cypress
• Daniel A Gray
• Nynke Hofman
• Jorgen K Kanters
• Elizabe

Publication date

2012-04-24

Journal

Journal topics

• Blood Circulation
• Cardiovascular System

Language

Eng.

Copyright

Circulation

Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

Release reference

Circulation. 2012 Apr;125(16):1988-96

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