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References

1. Alders M, Bikker H, Christiaans I. Long QT Syndrome. 2003 Feb 20 [updated 2018Feb 8]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1129/
2. Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ. Prevalence of long-QT syndromegene variants in sudden infant death syndrome. Circulation. 2007 Jan23;115(3):361-7.
3. 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-intervalsyndrome. Circulation. 2004 May 25;109(20):2394-7.
4. Chan PJ, Osteen JD, Xiong D, Bohnen MS, Doshi D, Sampson KJ, Marx SO, KarlinA, Kass RS. Characterization of KCNQ1 atrial fibrillation mutations revealsdistinct dependence on KCNE1. J Gen Physiol. 2012 Feb;139(2):135-44. doi:10.1085/jgp.201110672.
5. Ellinor PT, Moore RK, Patton KK, Ruskin JN, Pollak MR, Macrae CA. Mutations inthe long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation. Heart.2004 Dec;90(12):1487-8.
6. Herbert E, Trusz-Gluza M, Moric E, Smiłowska-Dzielicka E, Mazurek U, WilczokT. KCNQ1 gene mutations and the respective genotype-phenotype correlations in thelong QT syndrome. Med Sci Monit. 2002 Oct;8(10):RA240-8. Review.
7. 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 atrialfibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec1;68(3):433-40.
8. Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functionaleffects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res. 2001 Sep;51(4):670-80.
9. Ioakeimidis NS, Papamitsou T, Meditskou S, Iakovidou-Kritsi Z. Sudden infantdeath syndrome due to long QT syndrome: a brief review of the genetic substrateand prevalence. J Biol Res (Thessalon). 2017 Mar 14;24:6. doi:10.1186/s40709-017-0063-1.
10. Jespersen T, Grunnet M, Olesen SP. The KCNQ1 potassium channel: from gene tophysiological function. Physiology (Bethesda). 2005 Dec;20:408-16. Review.
11. 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.
12. Park KH, Piron J, Dahimene S, Mérot J, Baró I, Escande D, Loussouarn G.Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interactionunderlies the long QT syndrome. Circ Res. 2005 Apr 15;96(7):730-9.
13. Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, SmeetsHJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Geneticvariations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QTsyndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8.
14. Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002Jul 29 [updated 2017 Aug 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1405/
15. Tristani-Firouzi M, Sanguinetti MC. Structural determinants and biophysicalproperties of HERG and KCNQ1 channel gating. J Mol Cell Cardiol. 2003Jan;35(1):27-35. Review.
16. 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-Nielsensyndrome. Mol Genet Metab. 2002 Apr;75(4):308-16.