Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Genes for epilepsy mapped in the mouse.

M L Rise1, W N Frankel, J M Coffin

  • 1Department of Biology, Boston College, Chestnut Hill 02167.

Science (New York, N.Y.)
|August 9, 1991
PubMed
Summary

Researchers mapped genes linked to epilepsy in E1 mice, a model for human complex partial seizures. The El-1 gene was found on chromosome 9, with El-2 on chromosome 2 influencing seizure traits.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Proteomics analysis of extracellular vesicles during Vibrio anguillarum infection in lumpfish (Cyclopterus lumpus).

Fish & shellfish immunology·2025
Same author

Sex-Related Abnormalities in Substantia Nigra Lipids in Parkinson's Disease.

ASN neuro·2018
Same author

Non-Toxic Metabolic Management of Metastatic Cancer in VM Mice: Novel Combination of Ketogenic Diet, Ketone Supplementation, and Hyperbaric Oxygen Therapy.

PloS one·2015
Same author

SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy.

Journal of neuroscience methods·2015
Same author

Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease.

Gene therapy·2014
Same author

A genetic interaction network model of a complex neurological disease.

Genes, brain, and behavior·2014

Area of Science:

  • Neurogenetics
  • Epilepsy Research
  • Mouse Models

Background:

  • The E1 mouse strain exhibits a neurological mutant phenotype mirroring complex partial seizures observed in humans.
  • Understanding the genetic basis of epilepsy is crucial for developing targeted therapies.

Purpose of the Study:

  • To identify and localize the genes responsible for epileptic seizures in the E1 mouse model.
  • To investigate the inheritance patterns of seizure susceptibility using genetic crosses.

Main Methods:

  • Back-crosses were performed between the E1 mouse strain and two seizure-resistant strains (DBA/2J and ABP/LeJ).
  • Conventional chromosomal markers and endogenous proviral markers were utilized to track inheritance patterns.
  • Genetic mapping techniques were employed to localize key genes influencing the seizure phenotype.

Main Results:

  • The major gene, designated El-1, was localized to a region distal to the centromere on chromosome 9.
  • A second gene, El-2, influencing the seizure phenotype, was linked to proviral markers on chromosome 2.
  • A modifier gene potentially influencing seizures was identified within the DBA/2J genetic background.

Conclusions:

  • The localization of El-1 on mouse chromosome 9 suggests potential conserved synteny with human chromosome 3, offering a pathway for identifying human epilepsy candidate genes.
  • The findings highlight the complex genetic architecture of epilepsy, involving multiple genes with varying degrees of influence.
  • This study provides valuable genetic markers and insights for future research into the molecular mechanisms of epilepsy.

Related Experiment Videos