Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice

Hidemi Misawa, Elliott H. Sherr, David J. Lee, Dane M. Chetkovich, Andrew Tan, Christoph E. Schreiner, David S. Bredt

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Epilepsy is a debilitating disease with a strong genetic component. Positional cloning has identified a few genes for rare monogenic epilepsy syndromes; however, the genetics of common human epilepsies are too complex to be analyzed easily by current techniques. Mouse models of epilepsy can further this analysis by eliminating genetic background heterogeneity and enabling the production of sufficient numbers of offspring. Here, we report that Black Swiss mice have a heretofore unrecognized specific susceptibility to audiogenic seizures. These seizures are characterized by wild running, loss of righting reflex, and tonic flexion and extension, and are followed by a postictal period. The susceptibility to these seizures is developmentally regulated, peaking at 21 d of age and nearly disappearing by adulthood. Interestingly, both the susceptibility to seizures and their developmental regulation appear unrelated to hearing thresholds in the Black Swiss strain and backcrossed progeny. Genetic mapping and linkage analysis of hybrid mice localize the seizure gene, jams1 (juvenile audiogenic monogenic seizures), to a 1.6 ± 0.5 centimorgan (cM) region on mouse chromosome 10, delimited by the gene basigin (Bsg) and marker D10Mit140. Interestingly, the majority of the critical region is syntenic to a region on human chromosome 19p13.3 implicated in a familial form of juvenile febrile convulsions. Cloning the gene for audiogenic seizures in these mice may provide important insight into the fundamental mechanisms for developmentally regulated human epilepsy syndromes.

Original languageEnglish
Pages (from-to)10088-10093
Number of pages6
JournalJournal of Neuroscience
Volume22
Issue number23
Publication statusPublished - 2002 Dec 1
Externally publishedYes

Fingerprint

Seizures
Epilepsy
Genes
Organism Cloning
CD147 Antigens
Righting Reflex
Febrile Seizures
Chromosomes, Human, Pair 10
Genetic Linkage
Genetic Heterogeneity
Medical Genetics
Human Chromosomes
Running
Hearing

Keywords

  • Auditory brainstem evoked response
  • Chromosome 10
  • Chromosome 19p13.3
  • Developmental regulation
  • Febrile seizures
  • Genetics
  • Mouse audiogenic seizures

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Misawa, H., Sherr, E. H., Lee, D. J., Chetkovich, D. M., Tan, A., Schreiner, C. E., & Bredt, D. S. (2002). Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. Journal of Neuroscience, 22(23), 10088-10093.

Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. / Misawa, Hidemi; Sherr, Elliott H.; Lee, David J.; Chetkovich, Dane M.; Tan, Andrew; Schreiner, Christoph E.; Bredt, David S.

In: Journal of Neuroscience, Vol. 22, No. 23, 01.12.2002, p. 10088-10093.

Research output: Contribution to journalArticle

Misawa, H, Sherr, EH, Lee, DJ, Chetkovich, DM, Tan, A, Schreiner, CE & Bredt, DS 2002, 'Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice', Journal of Neuroscience, vol. 22, no. 23, pp. 10088-10093.
Misawa H, Sherr EH, Lee DJ, Chetkovich DM, Tan A, Schreiner CE et al. Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. Journal of Neuroscience. 2002 Dec 1;22(23):10088-10093.
Misawa, Hidemi ; Sherr, Elliott H. ; Lee, David J. ; Chetkovich, Dane M. ; Tan, Andrew ; Schreiner, Christoph E. ; Bredt, David S. / Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. In: Journal of Neuroscience. 2002 ; Vol. 22, No. 23. pp. 10088-10093.
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