Genetics of pediatric epilepsy.

Journal Article (Journal Article;Review)

As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause different epilepsy syndromes, making identification of the specific mutation increasingly more important for prognostication and often more directed treatment. Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies.

Full Text

Duke Authors

Cited Authors

  • Hani, AJ; Mikati, HM; Mikati, MA

Published Date

  • June 2015

Published In

Volume / Issue

  • 62 / 3

Start / End Page

  • 703 - 722

PubMed ID

  • 26022171

Electronic International Standard Serial Number (EISSN)

  • 1557-8240

Digital Object Identifier (DOI)

  • 10.1016/j.pcl.2015.03.013


  • eng

Conference Location

  • United States