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J Pediatr ; 191: 270-274, 2017 12.
Article in English | MEDLINE | ID: mdl-28987752

ABSTRACT

KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.


Subject(s)
Collateral Circulation , Epilepsies, Partial/genetics , Gain of Function Mutation , Nerve Tissue Proteins/genetics , Potassium Channels/genetics , Pulmonary Artery/physiopathology , Epilepsies, Partial/diagnosis , Epilepsies, Partial/physiopathology , Fatal Outcome , Female , Genetic Markers , Humans , Infant, Newborn , Male , Potassium Channels, Sodium-Activated
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