Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report

Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Col...

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Bibliographic Details
Main Authors: N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D'Auria
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Respiratory Medicine Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007124001783
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