Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

J Pediatr. 2017 Dec;191:270-274. doi: 10.1016/j.jpeds.2017.08.057. Epub 2017 Oct 5.

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.

Keywords: epilepsy; gain-of-function mutations; heart failure; hemoptysis; potassium channel.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Genetic Markers
  • KCNT1 protein, human
  • Nerve Tissue Proteins
  • Potassium Channels
  • Potassium Channels, Sodium-Activated