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References

These sources were used to develop the Genetics Home Reference gene summary on the KCNQ1 gene.

Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baró I, Wilde AA. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004 May 25;109(20):2394-7. PubMed citation
Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003 Jan 10;299(5604):251-4. PubMed citation
Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review. PubMed citation
Ellinor PT, Moore RK, Patton KK, Ruskin JN, Pollak MR, Macrae CA. Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation. Heart. 2004 Dec;90(12):1487-8. PubMed citation
Entrez Gene
Gene Review: Jervell and Lange-Nielsen Syndrome
Gene Review: Romano-Ward Syndrome
Herbert E, Trusz-Gluza M, Moric E, Smiłowska-Dzielicka E, Mazurek U, Wilczok T. KCNQ1 gene mutations and the respective genotype-phenotype correlations in the long QT syndrome. Med Sci Monit. 2002 Oct;8(10):RA240-8. Review. PubMed citation
Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec 1;68(3):433-40. Epub 2005 Aug 18. PubMed citation
Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res. 2001 Sep;51(4):670-80. PubMed citation
Jespersen T, Grunnet M, Olesen SP. The KCNQ1 potassium channel: from gene to physiological function. Physiology (Bethesda). 2005 Dec;20:408-16. Review. PubMed citation
Melman YF, Um SY, Krumerman A, Kagan A, McDonald TV. KCNE1 binds to the KCNQ1 pore to regulate potassium channel activity. Neuron. 2004 Jun 24;42(6):927-37. PubMed citation
Opdal SH, Rognum TO. The sudden infant death syndrome gene: does it exist? Pediatrics. 2004 Oct;114(4):e506-12. PubMed citation
Park KH, Piron J, Dahimene S, Mérot J, Baró I, Escande D, Loussouarn G. Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. Circ Res. 2005 Apr 15;96(7):730-9. Epub 2005 Mar 3. PubMed citation
Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8. Epub 2004 Feb 4. PubMed citation
Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M. Short QT syndrome. Cardiovasc Res. 2005 Aug 15;67(3):357-66. Review. PubMed citation
Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001 Apr 1;110(5):385-98. Review. PubMed citation
Tristani-Firouzi M, Sanguinetti MC. Structural determinants and biophysical properties of HERG and KCNQ1 channel gating. J Mol Cell Cardiol. 2003 Jan;35(1):27-35. Review. PubMed citation
Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sørland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M. Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum Genet. 2000 Nov;107(5):499-503. Erratum in: Hum Genet 2001 Jan;108(1):75. PubMed citation
Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genet Metab. 2002 Apr;75(4):308-16. PubMed citation


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