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Items: 10


Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

Celestino-Soper PB, Doytchinova A, Steiner HA, Uradu A, Lynnes TC, Groh WJ, Miller JM, Lin H, Gao H, Wang Z, Liu Y, Chen PS, Vatta M.

PLoS One. 2015 Dec 4;10(12):e0143588. doi: 10.1371/journal.pone.0143588. eCollection 2015. Erratum in: PLoS One. 2016;11(1):e0147455.


Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

Hu RM, Tan BH, Tester DJ, Song C, He Y, Dovat S, Peterson BZ, Ackerman MJ, Makielski JC.

PLoS One. 2015 Apr 29;10(4):e0124921. doi: 10.1371/journal.pone.0124921. eCollection 2015.


The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Milanesi R, Bucchi A, Baruscotti M.

J Interv Card Electrophysiol. 2015 Aug;43(2):121-34. doi: 10.1007/s10840-015-9998-z. Epub 2015 Apr 12. Review.


A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P.

Heart Rhythm. 2014 Jun;11(6):1015-1023. doi: 10.1016/j.hrthm.2014.02.021. Epub 2014 Feb 25.


Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.

Dolz-Gaitón P, Núñez M, Núñez L, Barana A, Amorós I, Matamoros M, Pérez-Hernández M, González de la Fuente M, Alvarez-López M, Macías-Ruiz R, Tercedor-Sánchez L, Jiménez-Jáimez J, Delpón E, Caballero R, Tamargo J.

PLoS One. 2013 Nov 25;8(11):e81493. doi: 10.1371/journal.pone.0081493. eCollection 2013.


Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

Hu RM, Tan BH, Orland KM, Valdivia CR, Peterson A, Pu J, Makielski JC.

Am J Physiol Heart Circ Physiol. 2013 Apr 1;304(7):H994-H1001. doi: 10.1152/ajpheart.00705.2012. Epub 2013 Feb 1.


A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.

Gosselin-Badaroudine P, Keller DI, Huang H, Pouliot V, Chatelier A, Osswald S, Brink M, Chahine M.

PLoS One. 2012;7(5):e38331. doi: 10.1371/journal.pone.0038331. Epub 2012 May 31. Erratum in: PLoS One. 2012;7(6). doi:10.1371/annotation/03304989-b70c-400c-b752-2e3d18851047.


Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.

Butters TD, Aslanidi OV, Inada S, Boyett MR, Hancox JC, Lei M, Zhang H.

Circ Res. 2010 Jul 9;107(1):126-37. doi: 10.1161/CIRCRESAHA.110.219949. Epub 2010 May 6.


Sodium channel carboxyl-terminal residue regulates fast inactivation.

Nguyen HM, Goldin AL.

J Biol Chem. 2010 Mar 19;285(12):9077-89. doi: 10.1074/jbc.M109.054940. Epub 2010 Jan 20.


Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Medeiros-Domingo A, Tan BH, Iturralde-Torres P, Tester DJ, Tusié-Luna T, Makielski JC, Ackerman MJ.

Heart Rhythm. 2009 Aug;6(8):1170-5. doi: 10.1016/j.hrthm.2009.04.034. Epub 2009 May 4.

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