Epilepsy. Genetics of early-onset epilepsy with encephalopathy

Nat Rev Neurol. 2012 Jan 31;8(3):129-30. doi: 10.1038/nrneurol.2012.12.

Abstract

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

Publication types

  • Comment

MeSH terms

  • Cognition Disorders / genetics*
  • DNA Copy Number Variations / genetics*
  • Epilepsy / genetics*
  • Epilepsy, Benign Neonatal / diagnosis*
  • Epilepsy, Benign Neonatal / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • KCNQ2 Potassium Channel / genetics*
  • Male
  • Mutation / genetics*
  • Phenotype*

Substances

  • KCNQ2 Potassium Channel