2018年3月7日 · Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the …

2017年10月11日 · In this study, we sought to develop a protein-specific algorithm capable of accurately predicting functional consequences of KCNQ1 variants. We first curated a set of …

More than 30 KCNQ1 gene mutations have been found to cause Jervell and Lange-Nielsen syndrome, a condition that causes arrhythmia and profound hearing loss from birth. About 90 …

This study describes the genotype–phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundred and two families with a history of lethal …

KCNQ1 mapped to chromosome 11p15.5, encodes the larger alpha-subunit and KCNE1 the smaller beta-subunit of the IKs protein. KCNQ1 consists of 16 exons, spanning 400 kb, has …

2007年4月30日 · In the present study involving 600 patients having a spectrum of KCNQ1 mutations derived from 3 long-QT syndrome registries, we found that cardiac event rates are …

2019年1月12日 · KCNQ1 (potassium voltage-gated channel subfamily Q member 1), the major gene involved in long QT syndrome (LQTS), is part of the imprinted gene cluster that is …

2021年12月16日 · Clinical and genetic data were obtained from 1,316 LQT1 patients with 166 unique KCNQ1 mutations, including 277 p.A341V-positive subjects, 139 patients with p.A341 …

2012年3月28日 · Patients with C-loop missense mutations in the KCNQ1 channel exhibit a high risk for life-threatening events and derive a pronounced benefit from treatment with β-blockers. …

KCNQ1 (formerly called KVLQT1) is a Shaker-like voltage-gated potassium channel gene responsible for the LQT1 sub-type of LQTS. In general, heterozygous mutations in KCNQ1 …