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2008 1
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Page 1
HERG1 channelopathies.
Sanguinetti MC. Sanguinetti MC. Pflugers Arch. 2010 Jul;460(2):265-76. doi: 10.1007/s00424-009-0758-8. Epub 2009 Nov 22. Pflugers Arch. 2010. PMID: 20544339 Free PMC article. Review.
Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. ...A single gain-of-function mutation has been described that causes short QT syndro
Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action …
Kir2.1-Na(V)1.5 channelosome and its role in arrhythmias in inheritable cardiac diseases.
Gutiérrez LK, Moreno-Manuel AI, Jalife J. Gutiérrez LK, et al. Heart Rhythm. 2024 May;21(5):630-646. doi: 10.1016/j.hrthm.2024.01.017. Epub 2024 Jan 18. Heart Rhythm. 2024. PMID: 38244712 Review.
For example, certain mutations in the KCNJ2 gene encoding the Kir2.1 protein result in Andersen-Tawil syndrome type 1 and alter both inward rectifier potassium and sodium inward currents. ...Moreover, gain-of-function mutations in KCNJ2 result in short
For example, certain mutations in the KCNJ2 gene encoding the Kir2.1 protein result in Andersen-Tawil syndrome type 1 a …
Clinical and molecular genetics of the short QT syndrome.
Schimpf R, Borggrefe M, Wolpert C. Schimpf R, et al. Curr Opin Cardiol. 2008 May;23(3):192-8. doi: 10.1097/HCO.0b013e3282fbf756. Curr Opin Cardiol. 2008. PMID: 18382206 Review.
A recently discovered primary electrical disease is discussed. RECENT FINDINGS: The inherited short QT syndrome is a recently recognized genetic condition, which is associated with atrial fibrillation, syncope and/or sudden cardiac death. Attention has been f …
A recently discovered primary electrical disease is discussed. RECENT FINDINGS: The inherited short QT syndrome is a re …
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.
Pérez Riera AR, Paixão-Almeida A, Barbosa-Barros R, Yanowitz FG, Baranchuk A, Dubner S, Palandri Chagas AC. Pérez Riera AR, et al. Cardiol J. 2013;20(5):464-71. doi: 10.5603/CJ.a2013.0052. Epub 2013 May 15. Cardiol J. 2013. PMID: 23677719 Free article. Review.
Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart disease that has a dominant autosomal or sporadic pattern of transmission affecting the electric system of the heart. ...These 3 potassium c …
Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart …
Drug-induced fatal arrhythmias: Acquired long QT and Brugada syndromes.
Turker I, Ai T, Itoh H, Horie M. Turker I, et al. Pharmacol Ther. 2017 Aug;176:48-59. doi: 10.1016/j.pharmthera.2017.05.001. Epub 2017 May 18. Pharmacol Ther. 2017. PMID: 28527921 Free article. Review.
These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome, progressive cardiac conduction disease, etc. Among these, long QT and Brugada syndromes are the most ex …
These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, …
Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.
Shimizu W, Horie M. Shimizu W, et al. Circ Res. 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600. Circ Res. 2011. PMID: 21700951 Review.
Since 1995, when a potassium channel gene, hERG (human ether-a-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed rectifier potassium channels was identified as being responsible for type 2 congenital long-QT syndrome, a number o …
Since 1995, when a potassium channel gene, hERG (human ether-a-go-go-related gene), now referred to as KCNH2, encoding the rapid component o …
Cardiac conduction disorders in children.
Steffensen TS, Barness EG. Steffensen TS, et al. Front Biosci (Elite Ed). 2009 Jun 1;1(2):519-27. doi: 10.2741/E48. Front Biosci (Elite Ed). 2009. PMID: 19482666 Free article. Review.
Histiocytoid cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Isolated noncompaction of the left ventricle, Long QT syndrome (LQTS) and Brugada syndrome, are all well described. Congenital short QT syndrome is a new familial primary electrical dise …
Histiocytoid cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Isolated noncompaction of the left ventricle, Long QT syndrome (LQT …
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.
Giudicessi JR, Ackerman MJ. Giudicessi JR, et al. Transl Res. 2013 Jan;161(1):1-14. doi: 10.1016/j.trsl.2012.08.005. Epub 2012 Sep 17. Transl Res. 2013. PMID: 22995932 Free PMC article. Review.
Mutations in genes encoding ion channel pore-forming alpha-subunits and accessory beta-subunits as well as intracellular calcium-handling proteins that collectively maintain the electromechanical function of the human heart serve as the underlying pathogenic substrate for a spect …
Mutations in genes encoding ion channel pore-forming alpha-subunits and accessory beta-subunits as well as intracellular calcium-handling pr …
Exercise restrictions for patients with inherited cardiac conditions: Current guidelines, challenges and limitations.
Hammond-Haley M, Patel RS, Providência R, Lambiase PD. Hammond-Haley M, et al. Int J Cardiol. 2016 Apr 15;209:234-41. doi: 10.1016/j.ijcard.2016.02.023. Epub 2016 Feb 4. Int J Cardiol. 2016. PMID: 26897076 Review.
Inherited primary arrhythmia syndromes are a clinically heterogeneous group of relatively uncommon but important inherited cardiac conditions that are associated with an increased risk of sudden cardiac death (SCD) in the setting of a structurally normal heart. These include long …
Inherited primary arrhythmia syndromes are a clinically heterogeneous group of relatively uncommon but important inherited cardiac condition …
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L, Denegri M, Napolitano C, Priori SG. Venetucci L, et al. Nat Rev Cardiol. 2012 Oct;9(10):561-75. doi: 10.1038/nrcardio.2012.93. Epub 2012 Jun 26. Nat Rev Cardiol. 2012. PMID: 22733215 Review.
Secondly, we review defects in genes encoding proteins that form the voltage-dependent L-type calcium channel, which regulates calcium entry into myocytes. Mutations in these genes cause various phenotypes, including Timothy syndrome, Brugada syndrome, and early repolariza …
Secondly, we review defects in genes encoding proteins that form the voltage-dependent L-type calcium channel, which regulates calciu …
15 results