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… Click to show full 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.
Keywords:
pulmonary haemorrhage;
embolisation followed;
kcnt1;
kcnt1 mutation;
coil embolisation
Journal Title: Cardiology in the young
Year Published: 2024
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Journal Title: Cardiology in the young
Year Published: 2024
Link to full text (if available)
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recommendations!