|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG.
|
11104743 |
2000 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period.
|
9654228 |
1998 |
|
Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
KCNQ1, like many K(+) channel α subunits, is regulated by KCNE β subunits, inherited mutations in which also associate with LQTS.
|
20688187 |
2010 |
|
Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
LQT1 is a subtype of LQTS caused by mutations in KCNQ1, affecting the slow delayed-rectifier potassium current (<i>I</i><sub>Ks</sub>), which is essential for cardiac repolarization.
|
30967788 |
2019 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A Chinese family diagnosed with LQTS were screened for KCNQ1, HERG and SCN5A, using polymerase chain reaction (PCR), direct sequencing, and clong sequencing.
|
23981618 |
2013 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A consanguineous family with the clinical phenotype of LQTS was screened for mutations in the KVLQT1 gene.
|
9641694 |
1998 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A decrease of IKr or IKs by mutations in either HERG, KvLQT1, or KCNE family results in inherited long QT syndrome (LQTS) with high risk for Torsades de pointes (TdP)-type polymorphic ventricular tachycardia and ventricular fibrillation.
|
14769199 |
2004 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
|
18580685 |
2008 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.
|
9702906 |
1998 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
|
11530100 |
2001 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
|
11530100 |
2001 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.
|
16818214 |
2006 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Amino acid sequence comparison reveals that both genes share strong homology to KvLQT1, the potassium channel encoded by KCNQ1, which is responsible for over 50% of inherited long QT syndrome.
|
9677360 |
1998 |
|
Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Among the 34 subjects with LQTS, 16 (10 women, age 32 +/- 3 years) had LQT1 and 18 (11 women, age 38 +/- 3 years) had LQT2.
|
20470906 |
2010 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases.
|
28438721 |
2017 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
|
28944242 |
2017 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.
|
16556865 |
2006 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
|
17470695 |
2007 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.
|
22727609 |
2013 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.
|
12051962 |
2002 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Compound mutations: a common cause of severe long-QT syndrome.
|
15051636 |
2004 |