scholarly article | Q13442814 |
P356 | DOI | 10.1161/CIRCULATIONAHA.106.646513 |
P698 | PubMed publication ID | 17210841 |
P50 | author | Peter J. Schwartz | Q37371478 |
Lia Crotti | Q56944927 | ||
P2093 | author name string | Alfred L George | |
Dao W Wang | |||
Chiara Ferrandi | |||
Ashild Vege | |||
Marianne Arnestad | |||
Matteo Pedrazzini | |||
Reshma R Desai | |||
Roberto Insolia | |||
Torleiv Rognum | |||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 368-376 | |
P577 | publication date | 2007-01-08 | |
P1433 | published in | Circulation | Q578091 |
P1476 | title | Cardiac sodium channel dysfunction in sudden infant death syndrome. | |
P478 | volume | 115 |
Q33159495 | A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations |
Q33804950 | A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. |
Q28471659 | A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response |
Q33608238 | Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current |
Q33892566 | Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels |
Q35553358 | Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis |
Q39870213 | Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome |
Q38207583 | Biophysics, pathophysiology, and pharmacology of ion channel gating pores |
Q38566595 | Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood |
Q35995795 | Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders |
Q37327429 | Calmodulin mutations associated with recurrent cardiac arrest in infants |
Q40756048 | Candidate gene variants of the immune system and sudden infant death syndrome. |
Q36399631 | Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. |
Q37903593 | Cardiac channelopathies and sudden infant death syndrome |
Q36486478 | Cardiac ion channelopathies and the sudden infant death syndrome |
Q38530644 | Cardiac potassium channel dysfunction in sudden infant death syndrome |
Q36628071 | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation |
Q28258096 | Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology |
Q33906972 | Cardiac sodium channelopathies |
Q46240331 | Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias |
Q43115368 | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome |
Q50066417 | Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing. |
Q37418554 | Common genetic variants in sudden cardiac death |
Q28661099 | Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia |
Q58010712 | Congenital long QT syndrome |
Q28239397 | Contribution of long-QT syndrome genetic variants in sudden infant death syndrome |
Q24311774 | Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel |
Q35798904 | Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia |
Q35620233 | Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice? |
Q55176457 | Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. |
Q88880489 | Dysfunctional Nav1.5 channels due to SCN5A mutations |
Q39692743 | Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations |
Q37291478 | Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome |
Q43142639 | Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform |
Q34000106 | Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation |
Q33347915 | Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations |
Q37771900 | Gene variants predisposing to SIDS: current knowledge |
Q37792404 | Genetics of Heart Failure and Sudden Death |
Q34469300 | Genomic risk factors in sudden infant death syndrome |
Q46542112 | Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome. |
Q42946073 | Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents |
Q37812463 | Investigating Sudden Unexpected Death in Infancy and Early Childhood |
Q94560886 | Late Sodium Current Inhibitors as Potential Antiarrhythmic Agents |
Q87840773 | Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel |
Q34920627 | Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations |
Q33834366 | Long QT molecular autopsy in sudden infant death syndrome. |
Q52577913 | Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand |
Q37367812 | Long QT syndrome-associated mutations in intrauterine fetal death |
Q29544671 | Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome |
Q24634068 | Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome |
Q47932254 | Molecular expression of multiple Nav1.5 splice variants in the frontal lobe of the human brain. |
Q34146462 | Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death |
Q33828302 | Multiple Nav1.5 isoforms are functionally expressed in the brain and present distinct expression patterns compared with cardiac Nav1.5. |
Q24337302 | Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A |
Q40402516 | Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? |
Q48112506 | Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes |
Q36724804 | Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome |
Q26772794 | Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison |
Q40710882 | Polymorphisms in genes of respiratory control and sudden infant death syndrome |
Q37793374 | Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. |
Q37442080 | Prevalence of the congenital long-QT syndrome. |
Q21129289 | Propranolol blocks cardiac and neuronal voltage-gated sodium channels |
Q37396920 | Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia |
Q46319201 | QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy |
Q37407869 | Role of congenital long-QT syndrome in unexplained sudden infant death: proposal for an electrocardiographic screening in relatives |
Q88573540 | SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance |
Q34517554 | SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del |
Q28279905 | Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5 |
Q33156246 | Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. |
Q28243424 | Sudden infant death syndrome and Ljungan virus |
Q50208657 | Sudden infant death syndrome and inherited cardiac conditions. |
Q37281775 | Sudden infant death syndrome: do ion channels play a role? |
Q37416479 | Sudden infant death while awake |
Q26827729 | Sudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditions |
Q92182038 | Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes |
Q36597505 | The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome |
Q49581003 | The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. |
Q46367175 | The SCN5A mutation A1180V is associated with electrocardiographic features of LQT3. |
Q37003681 | The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome |
Q33156531 | The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death |
Q35033696 | The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current |
Q51788865 | The complexity of genotype-phenotype relations associated with loss-of-function sodium channel mutations and the role of in silico studies. |
Q28252115 | The genetic basis of Brugada syndrome: a mutation update |
Q28262724 | The genetic basis of long QT and short QT syndromes: a mutation update |
Q44714535 | The human Nav1.5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity |
Q37370872 | The risk of cardiac events and genotype-based management of LQTS patients. |
Q41834232 | Tragic and sudden death. Potential and proven mechanisms causing sudden infant death syndrome |
Q43752110 | What is the mechanism of SIDS? Clues from epidemiology |
Q42621770 | Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels |
Search more.