The Jervell and Lange-Nielsen Syndrome
Author(s) -
Peter J. Schwartz,
Carla Spazzolini,
Lia Crotti,
Jørn Bathen,
Jan Amlie,
Katherine W. Timothy,
М. A. Shkolnikova,
Charles I. Berul,
Maria BitnerGlindzicz,
Lauri Toivonen,
Minoru Horie,
Eric SchulzeBahr,
Isabelle Denjoy
Publication year - 2006
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.105.592899
Subject(s) - medicine , long qt syndrome , qt interval , sudden cardiac death , cardiology , hazard ratio , sudden death , pediatrics , confidence interval
Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the I(Ks) current, are still based largely on case reports.
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