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.
Kawasaki, Y., Kuki, I., Ehara, E., Murakami, Y., Okazaki, S., Kawawaki, H., … Matsumoto, N. (2017). Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. Journal of Pediatrics, 191, 270–274. https://doi.org/10.1016/j.jpeds.2017.08.057