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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Q Wang, M E Curran, I Splawski, T C Burn, J M Millholland, T J VanRaay, J Shen, K W Timothy, G M Vincent, T de Jager, P J Schwartz, J A Toubin, A J Moss, D L Atkinson, G M Landes, T D Connors, M T Keating

Nat. Genet., 1996 Jan , 12, 17-23

Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death.

http://www.ncbi.nlm.nih.gov/pubmed/8528244