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Long QT syndrome 1; LQT1

Disease ID:564
Name:Long QT syndrome 1; LQT1
Associated with:1 target
Long QT syndrome | Romano-Ward syndrome
Database Links
Disease Ontology: DOID:2843
OMIM: 192500
Orphanet: ORPHA101016


Role:  Loss of function mutations in KCNQ1 (or associated KCNE1 beta-subunits) prolongs action potentials and increases risk of torsades de pointes arrhythmia, fibrillation and sudden death; recessive mutations also cause deafness
Drugs:  Activators of KCNQ1 may alleviate condition, but blockers can aggravate LQTS
Therapeutic use:  Activators are being explored as potential therapy for LQTS
Comments:  For a complete list of all the mutations in KCNQ1 associated with Long QT syndrome 1, please see the OMIM entry.
References:  1
Mutations:  Kv7.1 is associated with 1 mutation. Click here for details


No ligand related data available for Long QT syndrome 1; LQT1


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1. Keating MT, Sanguinetti MC. (2001) Molecular and cellular mechanisms of cardiac arrhythmias. Cell, 104 (4): 569-80. [PMID:11239413]

2. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T et al.. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet, 12 (1): 17-23. [PMID:8528244]