Associated Papers
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
Homma K
Biomedicines, 2022
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
27920829 (PubMed )
Supplement: mmc2.docx
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A et al.
Frontiers in Cellular Neuroscience, 2015
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Wilson AJ et al.
Cardiovascular Research, 2005
LQT genotype-phenotype relationships: patients and patches.
Wilde AA et al.
Cardiovascular Research, 2001
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
Huang L et al.
Cardiovascular Research, 2001
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Tyson J et al.
Human Genetics, 2000
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
Tranebjaerg L et al.
American Journal of Medical Genetics, 1999
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