|Budget Amount *help
¥41,860,000 (Direct Cost: ¥32,200,000、Indirect Cost: ¥9,660,000)
Fiscal Year 2018: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2017: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000)
Fiscal Year 2016: ¥6,890,000 (Direct Cost: ¥5,300,000、Indirect Cost: ¥1,590,000)
Fiscal Year 2015: ¥20,930,000 (Direct Cost: ¥16,100,000、Indirect Cost: ¥4,830,000)
|Outline of Final Research Achievements
Genetic abnormalities including some in two novel epilepsy genes have been identified in epilepsy phenotypes using the next generation sequence. The molecular pathogeneses of the epilepsy phenotypes have been also investigated with the genetic information available. Two strains of rats bearing genetic mutations identified in human epilepsy have been genetically engineered. Similarly, several strains of genetically engineered mice have been generated. The molecular pathomechanisms of epilepsies have been investigated in vivo with the animals. Artificial patient iPS cells harboring a mutation causing Dravet syndrome have been successfully generated. With these cells, the underlying molecular pathomechanisms of Dravet syndrome have been uncovered. With these genetically engineered animals and iPS cells, the development of novel therapies based upon the molecular pathogeneses of epilepsies have been initiated and several candidate compounds haven been found.