Genetics of sudden death: focus on inherited channelopathies

M Cerrone, SG Priori - European heart journal, 2011 - academic.oup.com
Since the discovery of the genetic bases of the long QT syndrome, several new genetically
mediated arrhythmias have been described, defining a new group of syndromes, called …

Beyond the one gene–one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders

M Cerrone, CA Remme, R Tadros, CR Bezzina… - Circulation, 2019 - Am Heart Assoc
Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …

[HTML][HTML] Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome

E Agullo-Pascual, M Cerrone, M Delmar - FEBS letters, 2014 - Elsevier
This review summarizes data in support of the notion that the cardiac intercalated disc is the
host of a protein interacting network, called “the connexome”, where molecules classically …

Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome

PJ Schwartz, SG Priori, M Cerrone, C Spazzolini… - Circulation, 2004 - Am Heart Assoc
Background—The management of long-QT syndrome (LQTS) patients who continue to have
cardiac events (CEs) despite β-blockers is complex. We assessed the long-term efficacy of …

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice

C Napolitano, SG Priori, PJ Schwartz, R Bloise… - Jama, 2005 - jamanetwork.com
ContextIn long QT syndrome (LQTS), disease severity and response to therapy vary
according to the genetic loci. There exists a critical need to devise strategies to expedite …

Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor

M Cerrone, B Colombi, M Santoro… - Circulation …, 2005 - Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease
characterized by adrenergically mediated polymorphic ventricular tachycardia leading to …

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

M Cerrone, X Lin, M Zhang, E Agullo-Pascual… - Circulation, 2014 - Am Heart Assoc
Background—Brugada syndrome (BrS) primarily associates with the loss of sodium channel
function. Previous studies showed features consistent with sodium current (I Na) deficit in …

Arrhythmogenic mechanisms in a mouse model of catecholaminergic polymorphic ventricular tachycardia

M Cerrone, SF Noujaim, EG Tolkacheva… - Circulation …, 2007 - Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (VT) is a lethal familial disease
characterized by bidirectional VT, polymorphic VT, and ventricular fibrillation …

Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency

M Cerrone, M Noorman, X Lin… - Cardiovascular …, 2012 - academic.oup.com
Aims The shRNA-mediated loss of expression of the desmosomal protein plakophilin-2
leads to sodium current (INa) dysfunction. Whether pkp2 gene haploinsufficiency leads to …

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

J Barc, R Tadros, C Glinge, DY Chiang, M Jouni… - Nature …, 2022 - nature.com
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …