Abstract
Abstract
KCNT1 mutations are associated with childhood epilepsy, developmental delay, and vascular malformations. We report a child with a likely pathogenic KCNT1 mutation (c.1885A>C, p.Lys629Glu) with recurrent pulmonary haemorrhage due to aortopulmonary collaterals successfully managed with coil embolisation followed by right upper lobectomy.
Publisher
Cambridge University Press (CUP)
Subject
Cardiology and Cardiovascular Medicine,General Medicine,Pediatrics, Perinatology and Child Health