Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
39969993 (PubMed )
Supplement: pnas.2412971122.sd02.xlsx › Sheet1
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
Chen XM et al.
Heart and Vessels, 2019
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
29444113 (PubMed )
Supplement: pone.0191905.s001.pdf
Long QT syndrome. Electrical miscues of the heart.
Unknown Author
Mayo Clinic Health Letter (english Ed.), 2014
A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome.
Ikrar T et al.
Journal of Cardiovascular Electrophysiology, 2008
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
Neyroud N et al.
European Journal of Human Genetics : Ejhg, 0
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