Epilepsy: Beyond the single nucleotide variant in epilepsy genetics

Nat Rev Neurol. 2014 Sep;10(9):490-1. doi: 10.1038/nrneurol.2014.146. Epub 2014 Aug 12.


Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy could be attributed to a pathogenic CNV in 5% of patients, but understanding the implications of a CNV for an individual patient can be challenging.

Publication types

  • Comment

MeSH terms

  • Chromosome Disorders / complications*
  • DNA Copy Number Variations / genetics*
  • Epilepsy / etiology*
  • Epilepsy / genetics*
  • Female
  • Humans
  • Male