LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

scientific article published on 30 July 2013

LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/CGE.12235
P698PubMed publication ID23844633

P2093author name stringA Tang
C Kerr
S McIntosh
H A Jackson
B Casey
B Whittome
L T Arbour
S Asuri
P2860cites workPathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmiasQ48045058
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Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.Q50497138
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.Q50499848
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.Q51145417
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Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmiasQ24314905
Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channelQ24318271
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndromeQ24318498
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndromeQ28251067
KCNE1 mutations cause jervell and Lange-Nielsen syndromeQ28253362
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndromeQ28260101
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.Q30497826
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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 geneQ33155088
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Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndromeQ33215010
A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.Q33804950
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Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden deathQ34241382
Inner ear defects induced by null mutation of the isk geneQ34412325
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing lossQ34545156
KCNQ4: a gene for age-related hearing impairment?Q34558530
K(+) cycling and its regulation in the cochlea and the vestibular labyrinthQ34720775
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervalsQ35904744
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosityQ36931773
AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and ArrhythQ37396694
Susceptibility genes & modifiers for cardiac arrhythmiasQ37436608
Prevalence of the congenital long-QT syndrome.Q37442080
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndromeQ42665516
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder populationQ46301151
P433issue1
P921main subjecthomozygosityQ114049690
P304page(s)85-90
P577publication date2013-07-30
P1433published inClinical GeneticsQ5133760
P1476titleLQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function
P478volume86