Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
about
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 deathGenetic basis of Brugada syndromeMolecular and genetic basis of sudden cardiac deathProtein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesisThe cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardiumCommon variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathThe Brugada syndrome in Canada: a unique French-Canadian experienceVentricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5ARisk stratification in electrical cardiomyopathies.A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutationsImpaired cardiac sympathetic innervation in symptomatic patients with long QT syndrome.A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.Clinical characteristics, management, and prognosis of elderly patients with Brugada syndrome.Risk stratification and treatment of brugada syndrome.Intermittent brugada syndrome presenting with syncope in an adult female.Risk Stratification and Therapeutic Approach in Brugada Syndrome.Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGsA mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotypeMultiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.J wave syndromes.Inherited disorders of voltage-gated sodium channels.Empiric quinidine therapy for asymptomatic Brugada syndrome: time for a prospective registry.Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients.The β1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through α-α interaction.Overview of Basic Mechanisms of Cardiac ArrhythmiaBrugada syndrome: from cell to bedsideA heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.NF-kappaB-dependent transcriptional regulation of the cardiac scn5a sodium channel by angiotensin II.Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channelThe pathophysiological mechanisms of the onset of death through accidental hypothermia and the presentation of "The little match girl" case.Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndromeThe Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels.Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarctionGenetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias.Ionic and cellular mechanisms underlying the development of acquired Brugada syndrome in patients treated with antidepressants.Genetic Variation of SCN5A in Korean Patients with Sick Sinus SyndromeAtrial fibrillation and Brugada syndrome.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.J wave syndromes: a decade of progress.
P2860
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P2860
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Sodium channel gene (SCN5A) mu ...... familial and sporadic disease.
@en
Sodium channel gene
@nl
type
label
Sodium channel gene (SCN5A) mu ...... familial and sporadic disease.
@en
Sodium channel gene
@nl
prefLabel
Sodium channel gene (SCN5A) mu ...... familial and sporadic disease.
@en
Sodium channel gene
@nl
P50
P356
P1433
P1476
Sodium channel gene (SCN5A) mu ...... familial and sporadic disease.
@en
P2093
Eric Schulze-Bahr
Karlheinz Seidl
P304
P356
10.1002/HUMU.9144
P577
2003-06-01T00:00:00Z