Technology Listings


Mouse Models of Generalized Epilepsy

Applications
  • Study of the mechanism of epilepsy.
  • Evaluation of the efficacy of pharmacological agents.
Technical Summary

Mutations in the voltage-gated sodium channel SCN1A cause several subtypes of dominant idiopathic generalized epilepsy (IGE) including Generalized Epilepsy with Febrile Seizures Plus (GEFS+). GEFS+ is a dominant familial disorder characterized by febrile (fever-induced) seizures that persist beyond the age of six and that are often followed by the development of adult epilepsy. Affected individuals within GEFS+ families often display a wide variety of IGE subtypes with markedly different ages of onset and severity, suggesting the action of genetic and/or environmental modifiers. It has been demonstrated that mutations in SCN1A are responsible for some cases of GEFS+.

Mouse models of GEFS+ have been developed to help elucidate the mechanisms by which sodium channel dysfunction leads to epilepsy. Two human SCN1A GEFS+ mutations were individually introduced into the mouse SCN1A gene by homologous recombination (knock-in) in mouse embryonic stem (ES) cells. The mutated ES cells were used to generate mice with the individual mutations to model human GEFS+. Heterozygous knock-in mice with the mutations were observed to have infrequent, spontaneous seizures.

Patent Information
Tech ID: 08111
Published: 4/29/2009
Category
Research Tools

Contact
Hyeon (Sean) Kim
Licensing Associate
Emory University
hkim70@emory.edu

Inventor(s)
Andrew Escayg

Keywords
Mouse Model
Neuroscience/Pain