Seizure disorders in mutant mice: relevance to human epilepsies.

Journal Article (Journal Article;Review)

The rate at which mutant genes producing an epileptic phenotype in mice have been identified over the past few years has been astounding. Manipulating the genome of mice has led to identification of a diversity of genes whose absence or modification either causes epileptic seizures or, conversely, limits epileptogenesis. In addition, positional cloning of genes in which spontaneously arising mutations cause epilepsy in mice has led to the identification of genes encoding voltage- and ligand-gated ion channels. Finally, engineering a mutation that mimics a rare form of human epilepsy has led to a mouse line with a phenotype similar to that of the human disease. Taken together, these discoveries promise to shed light on the mechanisms underlying genetic control of neuronal excitability, suggest candidate genes underlying genetic forms of human epilepsy, and provide a valuable model with which to elucidate how the genotype produces the phenotype of a rare form of human epilepsy.

Full Text

Duke Authors

Cited Authors

  • Puranam, RS; McNamara, JO

Published Date

  • June 1999

Published In

Volume / Issue

  • 9 / 3

Start / End Page

  • 281 - 287

PubMed ID

  • 10395577

International Standard Serial Number (ISSN)

  • 0959-4388

Digital Object Identifier (DOI)

  • 10.1016/s0959-4388(99)80041-5


  • eng

Conference Location

  • England