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Functional profiling of <i>KCNE1</i> variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2

2025-04-01

Abstract excerpt

Congenital long-QT syndrome (LQTS) is most often associated with pathogenic variants in KCNQ1 encoding the pore-forming voltage-gated potassium channel subunit of the slow delayed rectifier current ( I Ks ). Generation of I Ks requires assembly of KCNQ1 with an auxiliary subunit encoded by KCNE1 , which is also associated with LQTS but causality of autosomal dominant disease is disputed. By contrast, KCNE1 is...

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Literature Corpus work
ede36b7d-1041-529c-b9e0-56751c4204cf
DOI
10.1101/2025.03.28.646046
Open publication

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Functional profiling of <i>KCNE1</i> variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2DOI 10.1101/2025.03.28.646046
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