Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice Academic Article uri icon

Overview

MeSH Major

  • DNA-Binding Proteins
  • Epilepsy, Tonic-Clonic
  • Genes
  • Nerve Tissue Proteins

abstract

  • Epidemiological data and genetic studies indicate that certain forms of human epilepsy are inherited. Based on the similarity between the human and mouse genomes, mouse models of epilepsy could facilitate the discovery of genes associated with epilepsy syndromes. Here, we report an insertional murine mutation that inactivates a novel gene and results in whole body jerks, generalized clonic seizures, and epileptic brain activity in transgenic mice. The gene, named jerky, encodes a putative 41.7 kD protein displaying homology to a number of nuclear regulatory proteins, suggesting that perhaps the jerky protein is able to bind DNA.

publication date

  • January 1995

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed ID

  • 7550318

Additional Document Info

start page

  • 71

end page

  • 5

volume

  • 11

number

  • 1