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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, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet., 12 (1): 17-23. [PMID:8528244]