The genetic basis of long QT and short QT syndromes: a mutation update
PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …
abnormalities that are characterized by length perturbations of the QT interval as measured …
Toxicology and genetic toxicology in the new era of “toxicogenomics”: impact of “-omics” technologies
MJ Aardema, JT MacGregor - Mutation Research/Fundamental and …, 2002 - Elsevier
The unprecedented advances in molecular biology during the last two decades have
resulted in a dramatic increase in knowledge about gene structure and function, an …
resulted in a dramatic increase in knowledge about gene structure and function, an …
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
E Burashnikov, R Pfeiffer, H Barajas-Martinez… - Heart rhythm, 2010 - Elsevier
BACKGROUND: L-type calcium channel (LTCC) mutations have been associated with
Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is …
Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is …
Systematic review of the genetics of sudden unexpected death in epilepsy: potential overlap with sudden cardiac death and arrhythmia‐related genes
CAA Chahal, MN Salloum, F Alahdab… - Journal of the …, 2020 - Am Heart Assoc
Background Sudden unexpected death in epilepsy (SUDEP) is the leading cause of
epilepsy‐related death. SUDEP shares many features with sudden cardiac death and …
epilepsy‐related death. SUDEP shares many features with sudden cardiac death and …
Functional Effects of KCNE3 Mutation and Its Role in the Development of Brugada Syndrome
Background—The Brugada syndrome, an inherited syndrome associated with a high
incidence of sudden cardiac arrest, has been linked to mutations in 4 different genes …
incidence of sudden cardiac arrest, has been linked to mutations in 4 different genes …
The challenges of predicting drug-induced QTc prolongation in humans
JP Valentin, P Hoffmann… - Toxicological …, 2022 - academic.oup.com
The content of this article derives from a Health and Environmental Sciences Institute (HESI)
consortium with a focus to improve cardiac safety during drug development. A detailed …
consortium with a focus to improve cardiac safety during drug development. A detailed …
Sudden unexpected death in epilepsy genetics: molecular diagnostics and prevention
AM Goldman, ER Behr, C Semsarian, RD Bagnall… - …, 2016 - Wiley Online Library
Epidemiologic studies clearly document the public health burden of sudden unexpected
death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic …
death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic …
Post‐mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases
E Tu, RD Bagnall, J Duflou, C Semsarian - Brain Pathology, 2011 - Wiley Online Library
Sudden unexpected death in epilepsy (SUDEP) is the most frequent epilepsy‐related cause
of death and is characterized by an absence of any identifiable cause of death at post …
of death and is characterized by an absence of any identifiable cause of death at post …
Cardiac IKr channels minimally comprise hERG 1a and 1b subunits
EMC Jones, ECR Roti, J Wang, SA Delfosse… - Journal of Biological …, 2004 - ASBMB
Previous studies suggest native cardiac I Kr channels are composed of alpha subunits
encoded solely by the 1a transcript of the ERG1 gene. Using isoform-specific ERG1 …
encoded solely by the 1a transcript of the ERG1 gene. Using isoform-specific ERG1 …
Role of glycosylation in cell surface expression and stability of HERG potassium channels
Q Gong, CL Anderson, CT January… - American Journal of …, 2002 - journals.physiology.org
The human ether-à-go-go-related gene (HERG) encodes the pore-forming subunit of the
rapidly activating delayed rectifier potassium channel in the heart. We previously showed …
rapidly activating delayed rectifier potassium channel in the heart. We previously showed …