Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome

• Published in: Circulation (New York, N.Y.) Vol. 102; no. 8; pp. 921 - 925
• Main Authors: ABRIEL, H, WEHRENS, X. H. T, BENHORIN, J, KEREM, B, KASS, R. S
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 22.08.2000; American Heart Association, Inc
• Subjects: Anti-Arrhythmia Agents - pharmacology; Biological and medical sciences; Cardiac dysrhythmias; Cardiology. Vascular system; Cell Line; Dose-Response Relationship, Drug; Flecainide - pharmacology; Genetic Linkage; Heart; Humans; Kinetics; Lidocaine - pharmacology; Long QT Syndrome - drug therapy; Long QT Syndrome - genetics; Medical sciences; Membrane Potentials - drug effects; Membrane Potentials - physiology; NAV1.5 Voltage-Gated Sodium Channel; Point Mutation; Sodium Channel Blockers; Sodium Channels - genetics; Substrate Specificity; Human; Arrhythmia; Prolonged QT interval; Electrophysiology; Cardiovascular disease; Ionic channel; Pharmacology; Antiarrhythmic agent; Conduction disorder; Gene; Heart block; Heart disease; Sodium ion; Mutation; Flecainide

Multiple mutations of SCN5A, the gene that encodes the human Na(+) channel alpha-subunit, are linked to 1 form of the congenital long-QT syndrome (LQT-3). D1790G (DG), an LQT-3 mutation of the C-terminal region of the Na(+) channel alpha-subunit, alters steady-state inactivation of expressed channel...