Article
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc - 1 Jul 2003
Ning Li, Moss Arthur J, Zareba Wojciech, Robinson Jennifer, Rosero Spencer, Ryan Dan, Qi Ming
Abstract excerpt
BACKGROUND: The Jervell and Lange-Nielsen syndrome (JLNS) is the autosomal recessive form of long QT syndrome (LQTS)--a familial cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. JLNS is associated with sensorineural deafness and has been shown to occur with homozygous mutations in KCNQ1 or KCNE1 in JLNS families in which QTc...
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