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Cardiol Young ; 34(3): 701-703, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38229505

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.


Subject(s)
Blood Vessel Prosthesis , Vascular Malformations , Child , Humans , Mutation , Nerve Tissue Proteins/genetics , Potassium Channels, Sodium-Activated/genetics
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