Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

scientific article published on 29 January 2017

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3390/BIOLOGY6010007
P932PMC publication ID5372000
P698PubMed publication ID28146053

P50authorRamon BrugadaQ1546186
Josep BrugadaQ1706299
Georgia Sarquella-BrugadaQ51135420
Oscar CampuzanoQ42767334
Anna Fernandez-FalguerasQ87982784
P2860cites workEvaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac deathQ43590861
A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.Q44515706
Assessment of QT intervals and prevalence of short QT syndrome in Japan.Q44781039
Role of HCN4 channel in preventing ventricular arrhythmiaQ45804174
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Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome.Q50980218
Increase in sudden death from coronary artery disease in young adults.Q51050406
Clinical and electrocardiographic characteristics of patients with short QT interval in a large hospital-based population.Q51424203
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A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 geneQ24297875
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmiasQ24298971
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Mutations in calmodulin cause ventricular tachycardia and sudden cardiac deathQ24300356
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndromeQ24300388
Mutation of an A-kinase-anchoring protein causes long-QT syndromeQ24304235
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in humanQ24307681
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Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndromeQ37140014
Calmodulin mutations associated with recurrent cardiac arrest in infantsQ37327429
The molecular autopsy: an indispensable step following sudden cardiac death in the young?Q37367786
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardiaQ37396920
FGF12 is a candidate Brugada syndrome locusQ37407989
Prevalence of the congenital long-QT syndrome.Q37442080
Sudden death: managing the patient who survives.Q37928855
Sudden cardiac death caused by coronary heart diseaseQ37988837
Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool modelQ38057534
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Negative autopsy and sudden cardiac death.Q38188482
The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases.Q38197734
Utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification.Q38231499
Postmortem molecular screening in unexplained sudden death.Q38447893
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Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.Q40355175
Can antiarrhythmic drugs survive survival trials?Q40863654
Post-mortem genetic analysis in juvenile cases of sudden cardiac death.Q41758739
The pathophysiological mechanism underlying Brugada syndrome: depolarization versus repolarizationQ41772555
Sex difference in risk of torsade de pointes with d,l-sotalolQ42552460
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.Q43073409
Drug-induced QT prolongation in women during the menstrual cycleQ43545871
Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndromeQ43580608
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndromeQ24317024
Mutations in the hminK gene cause long QT syndrome and suppress IKs functionQ24323571
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutationsQ24529526
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testQ24607414
Functional effects of KCNE3 mutation and its role in the development of Brugada syndromeQ24655604
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac deathQ24675134
Catecholaminergic Polymorphic Ventricular TachycardiaQ28076072
Current topics in catecholaminergic polymorphic ventricular tachycardiaQ28076784
Identification of a Kir3.4 mutation in congenital long QT syndromeQ28114943
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autismQ28117072
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)Q28117761
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndromeQ28118648
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardiaQ28201561
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from IsraelQ28204838
Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndromeQ28236522
Genetic basis and molecular mechanism for idiopathic ventricular fibrillationQ28265902
Catecholaminergic polymorphic ventricular tachycardiaQ28287523
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathQ28294931
K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium currentQ28295470
Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardiaQ28299768
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotypeQ28304358
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channelQ28485378
A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.Q29347544
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and SparksQ29347555
Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society WorkshopQ30433543
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.Q33147854
Proposed diagnostic criteria for the Brugada syndrome: consensus reportQ33148286
Short QT Syndrome: a familial cause of sudden deathQ33149259
Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden deathQ33149692
A NEW FAMILIAL CARDIAC SYNDROME IN CHILDRENQ33150169
RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)Q33150208
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutationsQ33151146
Short QT syndromeQ33152684
Gain-of-function KCNH2 mutations in patients with Brugada syndrome.Q51750593
Sex differences in the evolution of the electrocardiographic QT interval with ageQ52415294
Incidence of sudden cardiac death in China: analysis of 4 regional populations.Q53777625
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndromeQ55422968
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22Q55843608
Catecholaminergic Polymorphic Ventricular TachycardiaQ55983198
Sudden Death in Young AdultsQ56554682
Muerte súbitaQ57235785
Drug-Induced Prolongation of the QT IntervalQ57580883
2015 ESC Guidelines for the Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac DeathQ57626293
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneityQ58011214
Sex differences in phenotypic manifestation and gene transmission in the Romano-Ward syndromeQ58011347
Electrical alternation of the T-wave: Clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndromeQ58011829
Idiopathic short QT interval: a new clinical syndrome?Q59286850
A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndromeQ62105574
Clínica y genética en el síndrome de QT largoQ62671102
Spironolactone and Metabolic AcidosisQ66914789
Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 geneQ68298471
ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT SyndromeQ71807499
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypesQ73265460
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndromeQ73914726
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patientsQ75404578
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardiaQ78390804
Distinct U wave changes in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT)Q79845488
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohortQ80446672
Prevalence and prognostic significance of short QT interval in a middle-aged Finnish populationQ80749905
Multiple source surveillance incidence and aetiology of out-of-hospital sudden cardiac death in a rural population in the West of IrelandQ81118957
Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controlsQ81684580
Drug induced shortening of the QT/QTc interval: an emerging safety issue warranting further modelling and evaluation in drug research and development?Q82205802
Long QT SyndromeQ82207682
A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTSQ82712227
Dynamic change in ST-segment and spontaneous occurrence of ventricular fibrillation in Brugada syndrome with a novel nonsense mutation in the SCN5A gene during long-term follow-upQ82930778
Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplificationQ83353831
Prevalence of long and short QT in a young population of 41,767 predominantly male Swiss conscriptsQ83513616
Catecholaminergic Polymorphic Ventricular TachycardiaQ87379298
Brugada syndromeQ88086487
Short QT syndrome. Genotype-phenotype correlationsQ33153179
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcomeQ33153549
Short QT syndrome: clinical findings and diagnostic-therapeutic implicationsQ33154179
Long QT syndrome and pregnancyQ33154884
The Long QT SyndromeQ33155336
Clinical practice. Long-QT syndromeQ33155879
Clinical and molecular genetics of the short QT syndromeQ33156151
The long QT syndrome. Prospective longitudinal study of 328 familiesQ33156679
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndromeQ33157277
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Long-term follow-up of patients with short QT syndromeQ33160301
Arrhythmic risk in congenital long QT syndromeQ33160438
Brugada syndrome 2012.Q33161523
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.Q33161757
The long Q-T syndromeQ33162456
Practical issues in the management of the long QT syndrome: focus on diagnosis and therapyQ33163342
Brugada syndrome 1992-2012: 20 years of scientific excitement, and moreQ33163480
Novel calmodulin mutations associated with congenital arrhythmia susceptibilityQ33164413
Novel SCN10A variants associated with Brugada syndromeQ33165566
Short QT Syndrome - Review of Diagnosis and TreatmentQ33166770
Idiopathic long QT syndrome: progress and questionsQ33170127
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patientsQ33173888
Evidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 familiesQ33174006
Molecular genetic aspects of the Romano-Ward long QT syndromeQ33174174
Female gender as a risk factor for torsades de pointes associated with cardiovascular drugsQ33174249
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry.Q33175663
Improved functional expression of recombinant human ether-a-go-go (hERG) K+ channels by cultivation at reduced temperatureQ33311598
Sudden cardiac death with normal heart: molecular autopsyQ33348909
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotypeQ33572315
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testingQ33655317
Cardiac sodium channelopathiesQ33906972
PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome?Q33942230
Brugada syndrome: report of the second consensus conference.Q33987201
Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?Q34202001
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P577publication date2017-01-29
P1433published inBiologyQ17509951
P1476titleCardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
P478volume6

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