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List of works by Lia Crotti

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

article published in 2009

A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: Validation of the 2013 diagnostic criteria

scientific article published on 08 April 2014

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

scientific article

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

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1

scientific article

Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk

scientific article published on 20 March 2020

All LQT3 patients need an ICD: true or false?

scientific article

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

scientific article published on 16 January 2020

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

scientific article published on 23 June 2014

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

scientific article

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

scientific article published on 01 September 2019

Calmodulin mutations associated with recurrent cardiac arrest in infants

scientific article published on 06 February 2013

Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young

scientific article published on 06 December 2018

Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes

scientific article published on 11 December 2018

Can a Message From the Dead Save Lives?⁎⁎Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology

Cardiac arrhythmias of genetic origin are important contributors to sudden infant death syndrome

Cardiac potassium channel dysfunction in sudden infant death syndrome

scientific article published on 07 December 2007

Cardiac sodium channel dysfunction in sudden infant death syndrome

scientific article published on 8 January 2007

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

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

scientific article published on 26 August 2016

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

scientific article published on 27 May 2015

Clinical conditions associated with abnormal QT interval: clinical implications

scientific article published in January 2013

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

scientific article published in August 2009

Common presentation of rare cardiac diseases: Arrhythmias.

scientific article published in April 2018

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

scientific article

Congenital long QT syndrome

Congenital short QT syndrome.

scientific article

Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications

scientific article published on 14 November 2017

Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

scientific article published on 18 May 2016

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

scientific article published on 10 May 2017

Does Pregnancy Increase Cardiac Risk for LQT1 Patients With the KCNQ1-A341V Mutation?

Drug-induced long QT syndrome and exome sequencing: Chinese shadows link past and future

scientific article published on 19 February 2014

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

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Exercise Training-Induced Repolarization Abnormalities Masquerading as Congenital Long QT Syndrome

scientific article published on 19 October 2020

FGF12 is a candidate Brugada syndrome locus

scientific article published on 04 October 2013

Filtering approach based on empirical mode decomposition improves the assessment of short scale complexity in long QT syndrome type 1 population

Founder populations with channelopathies and church records reveal all sorts of interesting secrets: Some are scientifically relevant.

scientific article published on 13 September 2017

From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2

scientific article published on 01 June 2019

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

Gene expression and arrhythmic risk ⬇️

scientific article published on March 8, 2012

Gene symbol: KCNH2

article

Gene symbol: KCNH2

scientific article published on 01 February 2007

Gene symbol: KCNH2. Disease: Long QT syndrome

scientific article

Gene symbol: KCNH2. Disease: Long QT syndrome.

scientific article published in June 2008

Gene symbol: KCNQ1

article

Gene symbol: KCNQ1. Disease: Long QT syndrome

scientific article

Gene symbol: KCNQ1. Disease: Long QT syndrome

article

Gene symbol: SCN5A

scientific article published on 01 February 2007

Gene symbol: SCN5A. Disease: Brugada syndrome

scientific article published in June 2008

Gene symbol: SCN5A. Disease: Brugada syndrome

scientific article

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.

scientific article published on 7 April 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

scientific article published on 6 April 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation

scientific article published on 27 March 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation

scientific article published on 13 April 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene

scientific article published on 06 March 2019

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

scientific article published on August 2016

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

scientific article

Genetic predisposition to sudden cardiac death

scientific article published on January 1, 2011

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

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

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

scientific article

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

scientific article published on 15 July 2013

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

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

scientific article published on 24 February 2016

International Triadin Knockout Syndrome Registry

scientific article published on 01 February 2019

Ion channel diseases in children: manifestations and management

scientific article published on May 2008

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

scientific article published on 22 August 2005

Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia

scientific article

Long QT syndrome-associated mutations in intrauterine fetal death

scientific article published on April 2013

Long-QT syndrome: from genetics to management

scientific article

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes

scientific article published on 16 March 2020

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

scientific article published on 02 December 2008

Mexiletine Shortens the QT Interval in Patients With Potassium Channel-Mediated Type 2 Long QT Syndrome

scientific article published on 01 May 2019

Modifier genes for sudden cardiac death

scientific article published on 01 November 2018

Multiscale complexity analysis of the cardiac control identifies asymptomatic and symptomatic patients in long QT syndrome type 1.

scientific article

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

scientific article published on 26 February 2016

Mutation-specific risk in two genetic forms of type 3 long QT syndrome

scientific article published in January 2010

NOS1AP is a genetic modifier of the long-QT syndrome

scientific article published on 12 October 2009

NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis

scientific article published on 15 February 2020

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

scientific article published on 01 March 2008

Neuroimmune crosstalk in the pathophysiology of hypertension

scientific article published on 01 August 2019

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

Novel Perspectives in Redox Biology and Pathophysiology of Failing Myocytes: Modulation of the Intramyocardial Redox Milieu for Therapeutic Interventions-A Review Article from the Working Group of Cardiac Cell Biology, Italian Society of Cardiology

scientific article

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

scientific article published on 10 June 2014

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes

scientific article published on 30 June 2016

Novel human pathological mutations. Gene symbol: SCN5A. Disease: Brugada Syndrome.

scientific article published in August 2009

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

scientific article

Physical Inactivity Is a Risk Factor for Primary Ventricular Fibrillation

scientific article published on 01 April 2019

Pleiotropic mutations in ion channels: What lies behind them? ⬇️

scientific article published on 07 October 2010

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

scientific article

Prevalence of the congenital long-QT syndrome.

scientific article published on 19 October 2009

Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: implications for the clinical management of LQT3 patients

scientific article published on 14 October 2013

Pulmonary hypertension due to a stiff left atrium: Speckle tracking equivalents of large V-waves

scientific article published on 05 August 2018

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

scientific article published on November 15, 2011

Refined multiscale entropy analysis of heart period and QT interval variabilities in long QT syndrome type-1 patients.

scientific article published in January 2013

Reply to the Editor— Propranolol Prevents Life-Threatening Arrhythmias in LQT3 Transgenic Mice: Implications for the Clinical Management of LQT3 Patients

Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?"

scientific article

Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation".

scientific article published in January 2016

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

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

scientific article published on 09 November 2020

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups

scientific article published in August 2018

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

scientific article published on June 2008

The Elusive Link Between LQT3 and Brugada Syndrome

scientific article published on 01 August 2000

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

scientific article published on 6 February 2006

The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.

scientific article published on 12 April 2017

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

The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability.

scientific article

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

scientific article published on 28 December 2015

The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?

scientific article published on 5 October 2017

The long QT syndrome

scientific article published on 01 January 2001

The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies.

scientific article published on June 2017

Time, frequency and information domain analysis of heart period and QT variability in asymptomatic long QT syndrome type 2 patients.

scientific article published in January 2015

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

scientific article published on 13 February 2012

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

scientific journal article

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

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

scientific article

When genetic screening for your patient with long QT syndrome comes back negative, don’t always take a no for a no

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

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