Jervell-Lange-Nielsen syndrome

Jervell-Lange-Nielsen syndrome

A rare (1:200,000) autosomal-recessive form of profound congenital deafness, associated with syncope and sudden cardiac death, caused by prolonged QT interval due to mutations in KCNQ1 or KCNE1, which encode proteins that co-assemble, thus forming a potassium channel.
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The Jervell-Lange-Nielsen Syndrome is more severe, is the rarer homozygous form, and is associated with congenital deafness.