Xcode Life

Condition: Jervell And Lange-Nielsen Syndrome 1

rs120074186 in KCNQ1 gene and Jervell And Lange-Nielsen Syndrome 1

PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 18441444 2008 A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

PMID 18400097 2008 Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 9781056 1998 Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

PMID 10090886 1999 Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

PMID 29372044 2018 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.