TY - JOUR AU - Rook, M. B. AU - Evers, M. M. AU - Vos, M. A. PY - 2012 DA - 2012// TI - Biology of cardiac sodium channel Nav1.5 expression JO - Cardiovasc Res VL - 93 UR - https://doi.org/10.1093/cvr/cvr252 DO - 10.1093/cvr/cvr252 ID - Rook2012 ER - TY - JOUR AU - Amin, A. S. AU - Asghari-Roodsari, A. AU - Tan, H. L. PY - 2010 DA - 2010// TI - Cardiac sodium channelopathies JO - Pflugers Arch VL - 460 UR - https://doi.org/10.1007/s00424-009-0761-0 DO - 10.1007/s00424-009-0761-0 ID - Amin2010 ER - TY - JOUR AU - Wilde, A. A. M. AU - Amin, A. S. PY - 2018 DA - 2018// TI - Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy JO - JACC Clin Electrophysiol VL - 4 UR - https://doi.org/10.1016/j.jacep.2018.03.006 DO - 10.1016/j.jacep.2018.03.006 ID - Wilde2018 ER - TY - JOUR AU - Cohen, S. A. AU - Barchi, R. L. PY - 1992 DA - 1992// TI - Cardiac sodium channel structure and function JO - Trends Cardiovasc Med VL - 2 UR - https://doi.org/10.1016/1050-1738(92)90020-S DO - 10.1016/1050-1738(92)90020-S ID - Cohen1992 ER - TY - JOUR AU - Kass, R. S. PY - 2006 DA - 2006// TI - Sodium channel inactivation in heart: a novel role of the carboxy-terminal domain JO - J Cardiovasc Electrophysiol VL - 17 UR - https://doi.org/10.1111/j.1540-8167.2006.00381.x DO - 10.1111/j.1540-8167.2006.00381.x ID - Kass2006 ER - TY - JOUR AU - Abriel, H. PY - 2007 DA - 2007// TI - Roles and regulation of the cardiac sodium channel Na v 1.5: recent insights from experimental studies JO - Cardiovasc Res VL - 76 UR - https://doi.org/10.1016/j.cardiores.2007.07.019 DO - 10.1016/j.cardiores.2007.07.019 ID - Abriel2007 ER - TY - JOUR AU - Remme, C. A. PY - 2013 DA - 2013// TI - Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects JO - J Physiol VL - 591 UR - https://doi.org/10.1113/jphysiol.2013.256461 DO - 10.1113/jphysiol.2013.256461 ID - Remme2013 ER - TY - JOUR AU - McNair, W. P. AU - Ku, L. AU - Taylor, M. R. G. PY - 2004 DA - 2004// TI - SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia JO - Circulation VL - 11015 UR - https://doi.org/10.1161/01.CIR.0000144458.58660.BB DO - 10.1161/01.CIR.0000144458.58660.BB ID - McNair2004 ER - TY - JOUR AU - Benson, D. W. AU - Wang, D. W. AU - Dyment, M. PY - 2003 DA - 2003// TI - Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A) JO - J Clin Invest VL - 112 UR - https://doi.org/10.1172/JCI200318062 DO - 10.1172/JCI200318062 ID - Benson2003 ER - TY - JOUR AU - Veerman, C. C. AU - Wilde, A. A. M. AU - Lodder, E. M. PY - 2015 DA - 2015// TI - The cardiac sodium channel gene SCN5A and its gene product NaV1.5: role in physiology and pathophysiology JO - Gene VL - 573 UR - https://doi.org/10.1016/j.gene.2015.08.062 DO - 10.1016/j.gene.2015.08.062 ID - Veerman2015 ER - TY - JOUR AU - Zaklyazminskaya, E. AU - Dzemeshkevich, S. PY - 1863 DA - 1863// TI - The role of mutations in the SCN5A gene in cardiomyopathies JO - Biochim Biophys Acta VL - 2016 UR - https://doi.org/10.1016/j.bbamcr.2016.02.014 DO - 10.1016/j.bbamcr.2016.02.014 ID - Zaklyazminskaya1863 ER - TY - JOUR AU - Verkerk, A. O. AU - Amin, A. S. AU - Remme, C. A. PY - 2018 DA - 2018// TI - Disease modifiers of inherited SCN5A channelopathy JO - Front Cardiovasc Med VL - 5 UR - https://doi.org/10.3389/fcvm.2018.00137 DO - 10.3389/fcvm.2018.00137 ID - Verkerk2018 ER - TY - JOUR AU - Clatot, J. AU - Ziyadeh-Isleem, A. AU - Maugenre, S. PY - 2012 DA - 2012// TI - Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits JO - Cardiovasc Res VL - 961 UR - https://doi.org/10.1093/cvr/cvs211 DO - 10.1093/cvr/cvs211 ID - Clatot2012 ER - TY - JOUR AU - Gütter, C. AU - Benndorf, K. AU - Zimmer, T. PY - 2013 DA - 2013// TI - Characterization of N-terminally mutated cardiac Na+ channels associated with long QT syndrome 3 and Brugada syndrome JO - Front Physiol VL - 4 UR - https://doi.org/10.3389/fphys.2013.00153 DO - 10.3389/fphys.2013.00153 ID - Gütter2013 ER - TY - STD TI - Köffer J, Scheiper-Welling S, Verhoff MA, et al. Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases. Int J Legal Med. 2020. https://doi.org/10.1007/s00414-020-02394-x. ID - ref15 ER - TY - JOUR AU - Adzhubei, I. A. AU - Schmidt, S. AU - Peshkin, L. PY - 2010 DA - 2010// TI - A method and server for predicting damaging missense mutations JO - Nat Methods VL - 7 UR - https://doi.org/10.1038/nmeth0410-248 DO - 10.1038/nmeth0410-248 ID - Adzhubei2010 ER - TY - JOUR AU - Schwarz, J. M. AU - Cooper, D. N. AU - Schuelke, M. PY - 2014 DA - 2014// TI - MutationTaster2: mutation prediction for the deep-sequencing age JO - Nat Methods VL - 11 UR - https://doi.org/10.1038/nmeth.2890 DO - 10.1038/nmeth.2890 ID - Schwarz2014 ER - TY - JOUR AU - Kumar, P. AU - Henikoff, S. AU - Ng, P. C. PY - 2009 DA - 2009// TI - Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm JO - Nat Protoc VL - 4 UR - https://doi.org/10.1038/nprot.2009.86 DO - 10.1038/nprot.2009.86 ID - Kumar2009 ER - TY - JOUR AU - Kircher, M. AU - Witten, D. M. AU - Jain, P. PY - 2014 DA - 2014// TI - A general framework for estimating the relative pathogenicity of human genetic variants JO - Nat Genet VL - 46 UR - https://doi.org/10.1038/ng.2892 DO - 10.1038/ng.2892 ID - Kircher2014 ER - TY - JOUR AU - Scheiper, S. AU - Hertel, B. AU - Beckmann, B. M. PY - 2017 DA - 2017// TI - Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients JO - BMC Med Genet VL - 18 UR - https://doi.org/10.1186/s12881-017-0472-x DO - 10.1186/s12881-017-0472-x ID - Scheiper2017 ER - TY - JOUR AU - Liu, C. AU - Xie, C. AU - Grant, K. AU - Su, Z. AU - Gao, W. AU - Liu, Q. AU - Zhou, L. PY - 2016 DA - 2016// TI - Patch-clamp fluorometry-based channel counting to determine HCN channel conductance JO - J Gen Physiol VL - 148 UR - https://doi.org/10.1085/jgp.201511559 DO - 10.1085/jgp.201511559 ID - Liu2016 ER - TY - JOUR AU - Hellenthal, N. AU - Gaertner-Rommel, A. AU - Klauke, B. PY - 2017 DA - 2017// TI - Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases JO - Europace VL - 19 UR - https://doi.org/10.1093/europace/euw247 DO - 10.1093/europace/euw247 ID - Hellenthal2017 ER - TY - JOUR AU - Amin, A. S. AU - Groot, E. A. A. AU - Ruijter, J. M. PY - 2009 DA - 2009// TI - Exercise-induced ECG changes in Brugada syndrome JO - Circ Arrhythm Electrophysiol VL - 2 UR - https://doi.org/10.1161/CIRCEP.109.862441 DO - 10.1161/CIRCEP.109.862441 ID - Amin2009 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Alvarez, O. AU - Gonzalez, C. AU - Latorre, R. PY - 2002 DA - 2002// TI - Counting channels: a tutorial guide on ion channel fluctuation analysis JO - Adv Physiol Educ VL - 26 UR - https://doi.org/10.1152/advan.00006.2002 DO - 10.1152/advan.00006.2002 ID - Alvarez2002 ER - TY - JOUR AU - Detta, N. AU - Frisso, G. AU - Salvatore, F. PY - 2015 DA - 2015// TI - The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology JO - Biochim Biophys Acta VL - 1854 UR - https://doi.org/10.1016/j.bbapap.2015.07.009 DO - 10.1016/j.bbapap.2015.07.009 ID - Detta2015 ER - TY - JOUR AU - Moreau, A. AU - Chahine, M. PY - 2018 DA - 2018// TI - A new cardiac channelopathy: from clinical phenotypes to molecular mechanisms associated with Nav1.5 gating pores JO - Front Cardiovasc Med VL - 5 UR - https://doi.org/10.3389/fcvm.2018.00139 DO - 10.3389/fcvm.2018.00139 ID - Moreau2018 ER - TY - JOUR AU - Musa, H. AU - Kline, C. F. AU - Sturm, A. C. PY - 2015 DA - 2015// TI - SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia JO - Proc Natl Acad Sci U S A VL - 112 UR - https://doi.org/10.1073/pnas.1516430112 DO - 10.1073/pnas.1516430112 ID - Musa2015 ER - TY - JOUR AU - Hornbeck, P. V. AU - Zhang, B. AU - Murray, B. AU - Kornhauser, J. M. AU - Latham, V. AU - Skrzypek, E. PY - 2015 DA - 2015// TI - PhosphoSitePlus, 2014: mutations, PTMs and recalibrations JO - Nucleic Acids Res VL - 43 UR - https://doi.org/10.1093/nar/gku1267 DO - 10.1093/nar/gku1267 ID - Hornbeck2015 ER -