1.
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.