|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To date, all KVLQT1 mutations determined to cause the LQTS are missense mutations.
|
8872472 |
1996 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common form of LQTS is due to mutations in the potassium channel gene KVLQT1, but their effects on associated currents are still unknown.
|
9302275 |
1997 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
|
Congenital long QT syndrome
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We expressed LQTS-associated KvLQT1 mutants in Xenopus oocytes either individually or in combination with wild-type KvLQT1 or in combination with both wild-type KvLQT1 and minK.
|
9323054 |
1997 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
|
9693036 |
1998 |
|
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 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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
|
10560595 |
1999 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies have identified four forms of congenital long QT syndrome (LQTS) caused by mutations in ion channel genes located on chromosomes 3 (LQT3), 7 (LQT2), 11 (LQT1), and 21 (LQT5).
|
10688323 |
1999 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Low penetrance in the long-QT syndrome: clinical impact.
|
9927399 |
1999 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KVLQT1 gene, encoding a potassium-channel subunit of importance for the depolarisation of cardiac myocytes, is believed to be associated with 50% of all LQTS cases.
|
10090529 |
1999 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
|
10704188 |
1999 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.
|
10737999 |
2000 |
|
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 |
The novel KCNQ1 mutation R259C is the molecular basis for I(Ks) dysfunction underlying an apparently sporadic case of hypokalemia-induced LQTS, consistent with a mild mutation likely to disclose the clinical manifestation of LQTS in a context of severe hypokalemia.
|
11021476 |
2000 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
|
11140949 |
2000 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Mechanisms of I(Ks) suppression in LQT1 mutants.
|
11087258 |
2000 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Conventional time- and frequency-domain and newer nonlinear measures of HRV were compared in resting conditions among 27 LQTS patients with gene mutations at the LQT1 (n = 8), LQT2 (n = 10) or LQT3 (n = 9) loci and 34 LQTS noncarrier family members.
|
11686910 |
2001 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNQ1 are the most frequent cause of the congenital long QT syndrome.
|
11334835 |
2001 |