Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Cardiac potassium channel subtypes: new roles in repolarization and arrhythmia

N Schmitt, M Grunnet, SP Olesen - Physiological reviews, 2014 - journals.physiology.org
About 10 distinct potassium channels in the heart are involved in shaping the action
potential. Some of the K+ channels are primarily responsible for early repolarization …

[HTML][HTML] Ventricular repolarization markers for predicting malignant arrhythmias in clinical practice

Y Castro-Torres, R Carmona-Puerta… - World Journal of …, 2015 - ncbi.nlm.nih.gov
Malignant cardiac arrhythmias which result in sudden cardiac death may be present in
individuals apparently healthy or be associated with other medical conditions. The way to …

The genetic architecture of long QT syndrome: a critical reappraisal

JR Giudicessi, AAM Wilde, MJ Ackerman - Trends in cardiovascular …, 2018 - Elsevier
Collectively, the completion of the Human Genome Project and subsequent development of
high-throughput next-generation sequencing methodologies have revolutionized genomic …

Brugada syndrome: clinical and genetic findings

G Sarquella-Brugada, O Campuzano, E Arbelo… - Genetics in …, 2016 - nature.com
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and
sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada …

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long‐QT syndrome

M Bellin, S Casini, RP Davis, C D'aniello, J Haas… - The EMBO …, 2013 - embopress.org
Patient‐specific induced pluripotent stem cells (iPSCs) will assist research on genetic
cardiac maladies if the disease phenotype is recapitulated in vitro. However, genetic …

Genotype-and phenotype-guided management of congenital long QT syndrome

JR Giudicessi, MJ Ackerman - Current problems in cardiology, 2013 - Elsevier
Congenital long QT syndrome (LQTS) is a genetically heterogeneous group of heritable
disorders of myocardial repolarization linked by the shared clinical phenotype of QT …

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

RF Marsman, J Barc, L Beekman, M Alders… - Journal of the American …, 2014 - jacc.org
Objectives: This study aimed to identify the genetic defect in a family with idiopathic
ventricular fibrillation (IVF) manifesting in childhood and adolescence. Background …

[HTML][HTML] Genetics of Brugada syndrome

JMJ Juang, M Horie - Journal of arrhythmia, 2016 - Elsevier
Abstract In 1992, the Brugada syndrome (BrS) was recognized as a disease responsible for
sudden cardiac death, characterized by a right bundle-branch block with ST segment …

Murine electrophysiological models of cardiac arrhythmogenesis

CLH Huang - Physiological reviews, 2017 - journals.physiology.org
Cardiac arrhythmias can follow disruption of the normal cellular electrophysiological
processes underlying excitable activity and their tissue propagation as coherent wavefronts …