Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of electrocardiology"
DOI: 10.1016/j.jelectrocard.2017.07.012
Abstract: BACKGROUND One of the foremost causes of sudden cardiac death in the young is an inherent cardiac arrhythmia known as Long-QT syndrome (LQTS). Whereas heterozygous mutations typically lead to the Romano-Ward type of LQTS, We… read more here.
Keywords: long syndrome; romano ward; recessive kcnq1; novel recessive ... See more keywords
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of cardiology"
DOI: 10.1016/j.jjcc.2016.09.010
Abstract: BACKGROUND Long QT syndrome (LQTS) presents two clinical phenotypes, congenital and acquired forms. This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes. METHODS From 1996 to 2014,… read more here.
Keywords: long syndrome; variant; romano ward; ward syndrome ... See more keywords
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants
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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