Jervell-Lange Nielsen Syndrome D029593

Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Arrhythmias, Cardiac » Long QT Syndrome » Jervell-Lange Nielsen Syndrome

Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Cardiac Conduction System Disease » Long QT Syndrome » Jervell-Lange Nielsen Syndrome

Description

A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).   MeSH

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