List of works - Lia Crotti

Prevalence of the congenital long-QT syndrome.

scientific article published on 19 October 2009

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

scientific article

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scientific article

Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia

scientific article

Calmodulin mutations associated with recurrent cardiac arrest in infants

scientific article published on 06 February 2013

Long-QT syndrome: from genetics to management

scientific article

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

scientific journal article

NOS1AP is a genetic modifier of the long-QT syndrome

scientific article published on 12 October 2009

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

scientific article published on 6 February 2006

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

scientific journal article

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

scientific article published on 22 August 2005

Cardiac sodium channel dysfunction in sudden infant death syndrome

scientific article published on 8 January 2007

Congenital long QT syndrome

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

scientific article

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

scientific article published on 25 July 2012

The Elusive Link Between LQT3 and Brugada Syndrome

scientific article published on 01 August 2000

High Efficacy of β-Blockers in Long-QT Syndrome Type 1

article by G. Michael Vincent et al published 20 January 2009 in Circulation

Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry

scientific article

QTc Behavior During Exercise and Genetic Testing for the Long-QT Syndrome

scientific article published on November 15, 2011

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

scientific article published on June 2008

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.

scientific article

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

scientific article published on 10 June 2014

A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.

scientific article

Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol

scientific article

FGF12 is a candidate Brugada syndrome locus

scientific article published on 04 October 2013

Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome

scientific article published on 01 March 2008

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

scientific article published on 7 December 2011

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

Long QT syndrome-associated mutations in intrauterine fetal death

scientific article published on April 2013

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms

scientific article published on 23 June 2014

Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation.

scientific article published on 27 May 2015

The genetics underlying acquired long QT syndrome: impact for genetic screening

scientific article published on 28 December 2015

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

scientific article

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

scientific article published on 2 February 2017

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

Cardiac potassium channel dysfunction in sudden infant death syndrome

scientific article published on 07 December 2007

All LQT3 patients need an ICD: true or false?

scientific article

Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome

scientific article published on 24 June 2014

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

scientific article published on 15 July 2013

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

scientific article

The long QT syndrome

scientific article published on 01 January 2001

Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome

scientific article

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel

scientific article published on 02 December 2008

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study

scientific article published on 26 August 2016

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

article published in 2009

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy

scientific article published in August 2009

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome

scientific article published on 24 February 2016

Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant

scientific article published on 13 February 2012

Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model

scientific article published on 21 July 2017

List of works by Lia Crotti

Prevalence of the congenital long-QT syndrome.

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia

Calmodulin mutations associated with recurrent cardiac arrest in infants

Long-QT syndrome: from genetics to management

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

NOS1AP is a genetic modifier of the long-QT syndrome

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

Cardiac sodium channel dysfunction in sudden infant death syndrome

Congenital long QT syndrome

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

The Elusive Link Between LQT3 and Brugada Syndrome

High Efficacy of β-Blockers in Long-QT Syndrome Type 1

Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry

QTc Behavior During Exercise and Genetic Testing for the Long-QT Syndrome

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.

Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol

FGF12 is a candidate Brugada syndrome locus

Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Long QT syndrome-associated mutations in intrauterine fetal death

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms

Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation.

The genetics underlying acquired long QT syndrome: impact for genetic screening

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

Cardiac potassium channel dysfunction in sudden infant death syndrome

All LQT3 patients need an ICD: true or false?

Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

The long QT syndrome

Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome

Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant

Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model