نتایج جستجو برای: Jervell and Lange-Nielsen syndrome
تعداد نتایج: 16945764 فیلتر نتایج به سال:
Jervell and Lange–Nielsen syndrome is caused by absence of the voltage-gated potassium current I Ks through either homozygous recessive or compound heterozygous mutations in KCNQ1 or KCNE1. We report here a case of Jervell and Lange–Nielsen syndrome with typical clinical features in which clinical genetic testing using next-generation sequencing (NGS) revealed only a known single heterozygous K...
BACKGROUND- Homozygous or compound heterozygous mutations in KCNQ1 cause Jervell and Lange-Nielsen syndrome, a rare, autosomal-recessive form of long-QT syndrome characterized by deafness, marked QT prolongation, and a high risk of sudden death. However, it is not understood why some individuals with mutations on both KCNQ1 alleles present without deafness. In this study, we sought to determine...
BACKGROUND Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. C...
Background—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 IKs current, are still based largely on case reports. Methods and Results—We analyzed data from 186 J-LN patients obtained from the literature (31%) and from indi...
Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. Th...
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