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Circulation, ISSN 0009-7322, 11/2018, Volume 138, Issue Suppl_1 Suppl 1, pp. A17021 - A17021
IntroductionThe autosomal dominant long QT syndrome type 3 (LQT3) is caused by gain-of-function mutations in the pore-forming cardiac sodium channel α-subunit... 
Journal Article
Pediatric Cardiology, ISSN 0172-0643, 10/2019, Volume 40, Issue 7, pp. 1388 - 1400
In this article, we provide a brief summary of work by us and others to discover the molecular underpinnings of early conduction system development and... 
Channelopathies | Medicine & Public Health | Cardiac Surgery | Development | Vascular Surgery | Cardiology | Conduction system | Tbx3
Journal Article
FRONTIERS IN PHYSIOLOGY, ISSN 1664-042X, 09/2018, Volume 9, p. 1254
Journal Article
2018, ISBN 2889456439
A well-adjusted expression of cardiac ion channels at the sarcolemma is of crucial importance for normal action potential formation and thus cardiac function.... 
Connexin43 (Cx43) | Kv11 | Glycosylation | NaV1 | Autophagy | Protein complexes | ion channel | arrhythmia | TRPM4 channel | trafficking | 5 channels | Kir2 | 1 channels
eBook
Frontiers in Physiology, ISSN 1664-042X, 05/2018, Volume 9, Issue MAY, p. 584
encodes the Kv11.1 α-subunit that underlies the rapidly activating delayed-rectifier K current in the heart. Loss-of-function mutations cause long QT syndrome... 
channel | Long QT syndrome | HERG | Arrhythmia | Trafficking | Kv11.1 | Gene mutations | Analysis | Quality control | Genetic aspects | Research | Risk factors | K+ channel | hERG | long QT syndrome | trafficking | arrhythmia
Journal Article
American Journal of Physiology, ISSN 0363-6135, 12/2014, Volume 307, Issue 12, p. H1777
  Long QT syndrome type 3 (LQT3) is caused by mutations in the SCN5A-encoded Nav1.5 channel. LQT3 patients exhibit time of day-associated abnormal increases in... 
Heart rate | Genotype & phenotype | Rodents | Long QT syndrome | Physiology | Mutation | Circadian rhythm
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 11/2016, Volume 91, Issue 11, pp. 1606 - 1616
We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to... 
EXOME | MEDICINE, GENERAL & INTERNAL | YOUNG | SKELETAL MYOPATHY | UNEXPLAINED DEATH | SUDDEN CARDIAC DEATH | MOLECULAR AUTOPSY | LONG QT SYNDROME | GENETIC-VARIANTS | MUTATIONS | POTASSIUM CHANNEL | Long QT syndrome | Causes of | Analysis | Sudden death | Genetic screening | Risk factors
Journal Article
Biophysical Journal, ISSN 0006-3495, 01/2013, Volume 104, Issue 2, pp. 266a - 266a
Journal Article
European Heart Journal, ISSN 0195-668X, 04/2018, Volume 39, Issue 16, pp. 1456 - 1458
Journal Article
American Journal of Physiology, ISSN 0363-6143, 11/2013, Volume 305, Issue 9, p. C919
  KCNH2 encodes Kv11.1 and underlies the rapidly activating delayed rectifier K+ current (I...) in the heart. Loss-of-function KCNH2 mutations cause the type 2... 
Heart | Drugs | Pharmacology | Mutation | Cells
Journal Article
Biophysical Journal, ISSN 0006-3495, 2011, Volume 100, Issue 3, pp. 427a - 427a
Journal Article
Journal of Cardiovascular Electrophysiology, ISSN 1045-3873, 05/2013, Volume 24, Issue 5, pp. 562 - 569
Journal Article
Biophysical Journal, ISSN 0006-3495, 2011, Volume 100, Issue 3, pp. 427a - 427a
Journal Article
Biophysical Journal, ISSN 0006-3495, 2011, Volume 100, Issue 3, pp. 427a - 427a
Journal Article
Biophysical Journal, ISSN 0006-3495, 01/2010, Volume 98, Issue 3, p. 119
Journal Article
Journal Article
Epilepsy Currents, ISSN 1535-7597, 3/2015, Volume 15, Issue 2, pp. 90 - 91
Journal Article
American Journal of Physiology, ISSN 0363-6143, 07/2011, Volume 301, Issue 1, p. C75
The human ether-a-go-go related gene (hERG) encodes the voltage-gated K+ channel that underlies the rapidly activating delayed-rectifier current in cardiac... 
Cardiomyocytes | Viruses | Glycoproteins | Mutation | Cells
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