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Quoted phrase not found in phrase index: "Long QT syndrome 1, recessive"
Page 1
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 …
Depending on their location and copy number, mutations of KCNQ1 and KCNE1 can cause either autosomal dominant Romano-Ward s …
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 …
Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive …
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z, Dalili M, Zeinali S, Saber S, Fazeli Far AF, Akbari MT. Zafari Z, et al. J Electrocardiol. 2017 Nov-Dec;50(6):912-918. doi: 10.1016/j.jelectrocard.2017.07.012. Epub 2017 Jul 12. J Electrocardiol. 2017. PMID: 29033053
BACKGROUND: One of the foremost causes of sudden cardiac death in the young is an inherent cardiac arrhythmia known as Long-QT syndrome (LQTS). Whereas heterozygous mutations typically lead to the Romano-Ward type of LQTS, We have provided a further evidence …
BACKGROUND: One of the foremost causes of sudden cardiac death in the young is an inherent cardiac arrhythmia known as Long-QT syndrome …
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.
Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, Towbin JA, Ackerman MJ, Murphy L. Goldenberg I, et al. J Cardiovasc Electrophysiol. 2006 Nov;17(11):1161-8. doi: 10.1111/j.1540-8167.2006.00587.x. Epub 2006 Aug 14. J Cardiovasc Electrophysiol. 2006. PMID: 16911578
INTRODUCTION: Data regarding risk factors and clinical course of patients affected with Jervell and Lange-Nielsen syndrome (JLNS), an autosomal recessive form of the congenital long-QT syndrome (LQTS), are limited to several reported cases and a retros …
INTRODUCTION: Data regarding risk factors and clinical course of patients affected with Jervell and Lange-Nielsen syndrome (JL …
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.
Antúnez-Argüelles E, Rojo-Domínguez A, Arregui-Mena AL, Jacobo-Albavera L, Márquez MF, Iturralde-Torres P, Villarreal-Molina MT. Antúnez-Argüelles E, et al. Gene. 2017 Sep 5;627:40-48. doi: 10.1016/j.gene.2017.06.011. Epub 2017 Jun 9. Gene. 2017. PMID: 28600177
The child was compound heterozygous for KCNQ1 variants p.Ala300Thr and p.Pro535Thr. Ala300Thr is known to cause long QT syndrome in the homozygous state, while Pro535Thr is novel and of unknown clinical significance. ...Altogether, the evidence strongly suggests that this …
The child was compound heterozygous for KCNQ1 variants p.Ala300Thr and p.Pro535Thr. Ala300Thr is known to cause long QT syndrome in t …