RIKEN Brain Science Institute (RIKEN BSI)Brain Science Institute

Identification of a Human Homologue of Mouse Epilepsy Gene and
it's Mapping to the Region for Childhood Absence Epilepsy on 8q24

Laboratory for Neurogenetic
Isolation, identification and functional analyses of the genes causing hereditary epilepsies are important research subjects to know the pathology of epilepsy and to develop new diagnosis and treatment techniques. Childhood absence epilepsy (CAE) is one of the most frequent form of epilepsy, occurring in 4% to 15% of all hereditary forms of epilepsy, and in more than 20% of childhood epilepsy cases.

Recent research has identified JH8 gene, which is a human homologue of mouse epilepsy gene jerky from a human fetal brain cDNA library. Fluorescence in-situ hybridization analysis and radiation hybrid cell panel analysis revealed that the JH8 is located on human chromosome band 8q24, one of the regions where genes for human CAE is expected to be located. The JH8 gene is composed of 520 amino acid residues and is homologous to the mouse jerky gene by 77% at the DNA level and 84% at the amino acid level. Mutational analyses of JH8 by using patients' DNA of CAE are now in progress.

This research is being conducted as a collaboration with Department of Neurology, Comprehensive Epilepsy Program, University of California, Los Angeles (USA).

Morita, R., Miyazaki, E., Fong, CG., Chen, X-N., Korenberg, JR., Delgado-Escueta, AV., Yamakawa, K.
JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.
Biochem. Biophys. Res. Commun. 248, pp307-314 (1998)

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