Article
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.
Pacing and clinical electrophysiology : PACE - 1 Sept 2006
Novotny Tomas, Kadlecova Jitka, Janousek Jan, Gaillyova Renata, Bittnerova Alexandra, Florianova Alena, Sisakova Martina, Toman Ondrej, Chroust Karel, Papousek Ivo, Spinar Jindrich
Abstract excerpt
In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation. The parents were heterozygous for this mutation. There was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.