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Isabelle Denjoy
Researcher at Paris Diderot University
Publications - 145
Citations - 7526
Isabelle Denjoy is an academic researcher from Paris Diderot University. The author has contributed to research in topics: Sudden death & Long QT syndrome. The author has an hindex of 37, co-authored 132 publications receiving 6868 citations. Previous affiliations of Isabelle Denjoy include St George’s University Hospitals NHS Foundation Trust.
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Catecholaminergic Polymorphic Ventricular Tachycardia in Children A 7-Year Follow-up of 21 Patients
TL;DR: The primary ventricular arrhythmia, consisting of isolated polymorphic ventricular extrasystoles followed by salvoes of bidirectional and polymorphic tachycardia susceptible to degeneration into ventricular fibrillation, was reproducibly induced by any form of increasing adrenergic stimulation.
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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
Nathalie Neyroud,F. Tesson,Isabelle Denjoy,Michel Leibovici,Claire Donger,Jacques Barhanin,Sabine Fauré,Françoise Gary,Philippe Coumel,Christine Petit,Ketty Schwartz,Pascale Guicheney +11 more
TL;DR: Data indicate that KVLQT1 is responsible for both JLN and RW syndromes and has a key role not only in the ventricular repolarization but also in normal hearing, probably via the control of endolymph homeostasis.
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Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia
Alex V. Postma,Isabelle Denjoy,Theo M. Hoorntje,Jean-Marc Lupoglazoff,Antoine Da Costa,Pascale Sebillon,Marcel M.A.M. Mannens,Arthur A.M. Wilde,Pascale Guicheney +8 more
TL;DR: It is suggested that CASQ2 mutations are more common than previously thought and produce a severe form of CPVT, which is a rare arrhythmogenic disorder characterized by syncopal events and sudden cardiac death at a young age during physical stress or emotion.
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KVLQT1 C-Terminal Missense Mutation Causes a Forme Fruste Long-QT Syndrome
Claire Donger,Isabelle Denjoy,Myriam Berthet,Nathalie Neyroud,Corinne Cruaud,Bennaceur M,Guy Chivoret,Ketty Schwartz,Philippe Coumel,Pascale Guicheney +9 more
TL;DR: The first missense mutation in the C-terminal domain of KVLQT1 is described, which is clearly associated with a fruste phenotype, which could be a favoring factor of acquired LQT syndrome.
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The Jervell and Lange-Nielsen Syndrome Natural History, Molecular Basis, and Clinical Outcome
Peter J. Schwartz,Carla Spazzolini,Lia Crotti,Jørn Bathen,Jan P. Amlie,Katherine W. Timothy,Maria Shkolnikova,Charles I. Berul,Maria Bitner-Glindzicz,Lauri Toivonen,Minoru Horie,Eric Schulze-Bahr,Isabelle Denjoy +12 more
TL;DR: J-LN syndrome is a most severe variant of LQTS, with a very early onset and major QTc prolongation, and in which β-blockers have limited efficacy; early therapy with implanted cardioverter/defibrillators must be considered.