Associated Papers
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review.
Zhou Y et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy.
Bagnall RD et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G et al.
Human Genetics, 2022
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Soh MS et al.
Annals of Clinical and Translational Neurology, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.
Sarquella-Brugada G et al.
Frontiers in Pediatrics, 2021
Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
Bleakley LE et al.
Frontiers in Neurology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong IUS et al.
Medical Sciences (basel, Switzerland), 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Genetic Basis of Sudden Unexpected Death in Epilepsy.
Bagnall RD et al.
Frontiers in Neurology, 2017
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Bagnall RD et al.
Annals of Neurology, 2016
Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.
Crotti L et al.
Heart Rhythm, 2012
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.
Aidery P et al.
Biochemical and Biophysical Research Communications, 2012
Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.
Losito L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
Linkage and mutation analysis in two Taiwanese families with long QT syndrome.
Ko YL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2001