×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
BEFREE
According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases.
28595573
2017
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
BEFREE
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
27041150
2016
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
26546361
2015
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
24912595
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
24552659
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GermlineCausalMutation
disease
ORPHANET
Genotype- and phenotype-guided management of congenital long QT syndrome.
24093767
2013
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
23392653
2013
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.
22309168
2012
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.
22429796
2012
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
23098067
2012
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
22539601
2012
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.
21350584
2011
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.
19934648
2010
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
BEFREE
Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes.
19027783
2009
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
CLINVAR
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
19716085
2009
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
LHGDN
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.
18400097
2008
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
BEFREE
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome .
16981927
2006
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
Biomarker
disease
BEFREE
We prospectively followed-up 44 JLNS patients from the U.S. portion of the International LQTS Registry and compared their clinical course with 2,174 patients with the phenotypically determined dominant form of LQTS (Romano-Ward syndrome [RWS]) and a subgroup of 285 patients with type 1 LQTS (LQT1 ).
16911578
2006
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
Biomarker
disease
BEFREE
Dominant-negative I(Ks) suppression by KCNQ1 -deltaF339 potassium channels linked to Romano-Ward syndrome .
15950200
2005
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
CLINVAR
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
15840476
2005
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
15840476
2005
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
LHGDN
Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome .
15511625
2004
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
CLINVAR
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
15466642
2004
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
GeneticVariation
disease
BEFREE
Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome .
15511625
2004
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
0.500
CausalMutation
disease
CLINVAR
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
14510661
2003