|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Congenital deafness associated with cardiac conduction abnormalities (Jervell and Lange-Nielsen syndrome) is associated with dysfunctional KCNQ1/KCNE1 channel complex.
|
15891643 |
2005 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS.
|
11140949 |
2000 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
|
10560595 |
1999 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified and characterized two novel KCNQ1 mutations that caused JLNS.
|
21380488 |
2011 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
LHGDN |
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
|
18441444 |
2008 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS.
|
27041150 |
2016 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
|
11530100 |
2001 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Patients with mutations in KCNQ1 may show only the cardiac defect (Romano-Ward syndrome or RWS) or may also have severe deafness (Jervell and Lange-Nielsen syndrome or JLNS).
|
15498462 |
2004 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
KCNQ1/KCNE1 potassium channels in mammalian vestibular dark cells.
|
11223304 |
2001 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide.
|
24552659 |
2014 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
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 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.
|
26084842 |
2015 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS.
|
14510661 |
2003 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report.
|
29037160 |
2017 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS.
|
14510661 |
2003 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
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 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Novel mutations of KCNQ1 in Long QT syndrome.
|
24206879 |
2015 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
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 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS.
|
14510661 |
2003 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified compound heterozygous mutations in KCNQ1 in a 5-yr-old child with JLNS, who visited the hospital due to recurrent syncope and seizures and had congenital sensorineural deafness.
|
20890437 |
2010 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
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 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.
|
24666684 |
2015 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Data on the Jervell and Lange-Nielsen syndrome (JLN), the long QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the IKs current, are still largely based on case reports.
|
17646758 |
2007 |
|
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital deafness associated with cardiac conduction abnormalities (Jervell and Lange-Nielsen syndrome) is associated with dysfunctional KCNQ1/KCNE1 channel complex.
|
15891643 |
2005 |