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   Articles with "kcnq1 variants" as a keyword



Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis

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recommendations! Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2412971122

Abstract: Significance Loss-of-function (LOF) pathogenic variants in the KCNQ1 potassium channel give rise to the cardiac arrhythmia disorder, long QT syndrome (LQTS). It is imperative to identify at-risk patients and administer preventative treatments, but current efforts… read more here.

Keywords: integrative analysis; kcnq1 variants; long syndrome; molecular mechanisms ... See more keywords

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange–Nielsen syndrome

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recommendations! Published in 2025 at "Channels"

DOI: 10.1080/19336950.2025.2580177

Abstract: ABSTRACT Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital bilateral sensorineural hearing loss, a prolonged QT interval (QTc) on an electrocardiogram (ECG), and a high incidence of sudden death in childhood. More than 90%… read more here.

Keywords: nielsen syndrome; lange nielsen; jervell lange; kcnq1 variants ... See more keywords

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants

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recommendations! Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24021350

Abstract: The KCNQ1 gene encodes the α-subunit of the cardiac voltage-gated potassium (Kv) channel KCNQ1, also denoted as Kv7.1 or KvLQT1. The channel assembles with the ß-subunit KCNE1, also known as minK, to generate the slowly… read more here.

Keywords: kcnq1; kcnq1 variants; romano ward; ward syndrome ... See more keywords