Ontology highlight
ABSTRACT:
SUBMITTER: Ambrosini E
PROVIDER: S-EPMC4140467 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Ambrosini Elena E Sicca Federico F Brignone Maria S MS D'Adamo Maria C MC Napolitano Carlo C Servettini Ilenio I Moro Francesca F Ruan Yanfei Y Guglielmi Luca L Pieroni Stefania S Servillo Giuseppe G Lanciotti Angela A Valvo Giulia G Catacuzzeno Luigi L Franciolini Fabio F Molinari Paola P Marchese Maria M Grottesi Alessandro A Guerrini Renzo R Santorelli Filippo M FM Priori Silvia S Pessia Mauro M
Human molecular genetics 20140502 18
Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3S, remain incompletely understood. Here, we report on monozygotic twins displaying a short QT interval on electrocardiogram recordings and autism-epilepsy phenotype. Genetic screening identified a nov ...[more]