Associated Papers
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.
Liin SI et al.
Elife, 2016
27690226 (PubMed )
Supplement: elife-20272-supp1.docx
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
Roncarati R et al.
European Journal of Human Genetics : Ejhg, 2013
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS et al.
European Heart Journal, 2012
22199116 (PubMed )
Supplement: supp_ehr473_ehr473supp.doc
The role of the epinephrine test in the diagnosis and management of children suspected of having congenital long QT syndrome.
Clur SA et al.
Pediatric Cardiology, 2010
Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.
Eldstrom J et al.
The Journal of General Physiology, 2010
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.
Inoue M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2003
Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome.
Yamaguchi M et al.
Clinical Science (london, England : 1979), 2003
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