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Genetics of long-QT syndrome.
Nakano Y, Shimizu W. Nakano Y, et al. J Hum Genet. 2016 Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25. J Hum Genet. 2016. PMID: 26108145 Review.
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead ECG, torsades de pointes and not negligible prevalence of sudden cardiac death. ...A total of 15 genes have been reported for autosomal-dom …
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead …
Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.
Kekenes-Huskey PM, Burgess DE, Sun B, Bartos DC, Rozmus ER, Anderson CL, January CT, Eckhardt LL, Delisle BP. Kekenes-Huskey PM, et al. Int J Mol Sci. 2022 Jul 2;23(13):7389. doi: 10.3390/ijms23137389. Int J Mol Sci. 2022. PMID: 35806392 Free PMC article. Review.
Shortly after the standardization of the 12-lead ECG for the diagnosis of heart disease, several families with autosomal recessive (Jervell and Lange-Nielsen Syndrome) and dominant (Romano-Ward Syndrome) forms of long QT syndrome (LQTS) were ide …
Shortly after the standardization of the 12-lead ECG for the diagnosis of heart disease, several families with autosomal recessive (Jervell …
Genetic and clinical advances in congenital long QT syndrome.
Mizusawa Y, Horie M, Wilde AA. Mizusawa Y, et al. Circ J. 2014;78(12):2827-33. doi: 10.1253/circj.cj-14-0905. Epub 2014 Oct 1. Circ J. 2014. PMID: 25274057 Free article. Review.
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead ECG, torsades de pointes and a higher chance of sudden cardiac death. LQTS segregates in a Mendelian fashion, which includes Romano- …
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead …
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M. Hedley PL, et al. Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Hum Mutat. 2009. PMID: 19862833 Review.
LQTS exists as a congenital genetic disease (cLQTS) with more than 700 mutations described in 12 genes (LQT1-12), but can also be acquired (aLQTS). The genetic forms of LQTS include Romano-Ward syndrome (RWS), which is characterized by isolated LQTS and an au …
LQTS exists as a congenital genetic disease (cLQTS) with more than 700 mutations described in 12 genes (LQT1-12), but can also be acquired ( …
Molecular genetics of long-QT syndrome.
Wattanasirichaigoon D, Beggs AH. Wattanasirichaigoon D, et al. Curr Opin Pediatr. 1998 Dec;10(6):628-34. doi: 10.1097/00008480-199810060-00016. Curr Opin Pediatr. 1998. PMID: 9848024 Review.
Depending on their location and copy number, mutations of KCNQ1 and KCNE1 can cause either autosomal dominant Romano-Ward syndrome or autosomal recessive Jervell and Lange-Nielsen syndrome. The cardiac sodium channel gene, SCN5A, is also mutated in som …
Depending on their location and copy number, mutations of KCNQ1 and KCNE1 can cause either autosomal dominant Romano-Ward s …
Congenital and acquired long QT syndrome. Current concepts and management.
Chiang CE. Chiang CE. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. doi: 10.1097/01.crd.0000123842.42287.cf. Cardiol Rev. 2004. PMID: 15191637 Review.
Congenital long QT syndrome (LQTS) is a rare but potentially lethal disease, characterized by prolongation of QT interval, recurrent syncope, and sudden death. ...
Congenital long QT syndrome (LQTS) is a rare but potentially lethal disease, characterized by prolongation of QT interval, recurrent …
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families.
Amirian A, Zafari Z, Karimipoor M, Kordafshari A, Dalili M, Saber S, Farjam Fazelifar A, Zeinali S. Amirian A, et al. Iran Biomed J. 2019 May;23(3):228-34. doi: 10.29252/.23.3.228. Epub 2019 Feb 24. Iran Biomed J. 2019. PMID: 30797226 Free PMC article. Review.
BACKGROUND: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. METHODS: Molecular investigation was performed by …
BACKGROUND: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac …
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC. Vyas B, et al. Am J Med Genet A. 2016 Jun;170(6):1510-9. doi: 10.1002/ajmg.a.37636. Epub 2016 Apr 4. Am J Med Genet A. 2016. PMID: 27041150 Review.
Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano-Ward syndrome (AR RWS). In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with L …
Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive …
The long QT syndromes: genetic basis and clinical implications.
Chiang CE, Roden DM. Chiang CE, et al. J Am Coll Cardiol. 2000 Jul;36(1):1-12. doi: 10.1016/s0735-1097(00)00716-6. J Am Coll Cardiol. 2000. PMID: 10898405 Free article. Review.
It is becoming clear that mutations in the KVLQT1, human "ether-a-go-go" related gene, cardiac voltage-dependent sodium channel gene, minK and MiRP1 genes, respectively, are responsible for the LQT1, LQT2, LQT3, LQT5 and LQT6 variants of the Romano-Ward syndrome …
It is becoming clear that mutations in the KVLQT1, human "ether-a-go-go" related gene, cardiac voltage-dependent sodium channel gene, minK a …
The molecular basis of long QT syndrome and prospects for therapy.
Wang Q, Bowles NE, Towbin JA. Wang Q, et al. Mol Med Today. 1998 Sep;4(9):382-8. doi: 10.1016/s1357-4310(98)01320-3. Mol Med Today. 1998. PMID: 9791861 Review.
Long QT syndrome (LQT) is a cardiac disorder that causes sudden death from ventricular tachyarrhythmias, specifically torsade de pointes. Two types of LQT have been reported, autosomal-dominant LQT (Romano-Ward syndrome) and autosomal-recessive LQT (Je …
Long QT syndrome (LQT) is a cardiac disorder that causes sudden death from ventricular tachyarrhythmias, specifically torsade de poin …
44 results