Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 28987752.
- Also identified by DOI 10.1016/j.jpeds.2017.08.057.
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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.
Medical subject headings
- Collateral Circulation
- Epilepsies, Partial
- Gain of Function Mutation
- Nerve Tissue Proteins
- Potassium Channels
- Pulmonary Artery