Benign familial neonatal epilepsy with mutations in two potassium channel genes

Curr Opin Neurol. 1999 Apr;12(2):143-7. doi: 10.1097/00019052-199904000-00003.

Abstract

The significant progress made over the past year in understanding the basis for a form of neonatal seizures can be attributed to the successful positional cloning of two new voltage-gated potassium channel genes. Expression studies have increased our understanding of the biology of these channels and their role in epilepsy.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, Pair 20 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Cloning, Molecular
  • Family*
  • Gene Expression / physiology
  • Genetic Heterogeneity
  • Humans
  • Infant, Newborn
  • Membrane Potentials / genetics
  • Mutation / physiology*
  • Neural Inhibition / genetics
  • Phenotype
  • Potassium Channels / biosynthesis
  • Potassium Channels / genetics*
  • Potassium Channels / physiology
  • Seizures / genetics*
  • Seizures / physiopathology
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / physiopathology

Substances

  • Potassium Channels