×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
9799083
1998
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
9570196
1998
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
A molecular mechanism for adrenergic-induced long QT syndrome.
24184248
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
9302275
1997
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1 .
19540844
2010
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome , inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait.
9641694
1998
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
9024139
1997
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
10728423
2000
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
25037568
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Mutations in KCNQ1 , encoding for Kv7.1, the α-subunit of the IKs channel, cause long-QT syndrome type 1 , potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone.
25139741
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
8528244
1996
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
9693036
1998
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Five genes have been implicated in Romano-Ward syndrome , the autosomal dominant form of LQTS: KVLQT1 , HERG, SCN5A, KCNE1, and KCNE2.
10973849
2000
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.
9702906
1998
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
9323054
1997
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
16414944
2005
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.
11799244
2002
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
9272155
1997
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
10220144
1999
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
We identified a multigenerational LQT1 family whereby 79% of the patients genotype-positive for p.Ile235Asn-KCNQ1 (I235N-Kv7.1) have concealed LQT1 .
24269949
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
25705178
2015
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
10482963
1999
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
9312006
1997
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
[Congenital long QT syndrome. The value of genetics in prognostic evaluation].
10367071
1999