2017 Fiscal Year Final Research Report
Epilepsy mechanism investigation and therapy development
| Project/Area Number |
25253073
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Institute of Physical and Chemical Research |
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Principal Investigator |
Yamakawa Kazuhiro 国立研究開発法人理化学研究所, 脳科学総合研究センター, チームリーダー (30241235)
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| Research Collaborator |
SUZUKI Toshimitsu 国立研究開発法人理化学研究所, 脳科学総合研究センター, 研究員
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| Project Period (FY) |
2013-05-31 – 2018-03-31
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| Keywords | てんかん / 遺伝子 / 若年ミオクロニーてんかん |
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| Outline of Final Research Achievements |
Juvenile myoclonic epilepsy (JME) is the most frequent epilepsy. In this study, we identified ICK (intestinal cell kinase) as the gene responsible for JME, the disease mutations interfere neuronal migration, and Ick knockout mouse showed an increased siesure susceptibility to isoflirane（Bailey et al, New Eng J Med 378:1018-28, 2018). Similarly to the EFHC1 that we previously reported as a JME gene, ICK also play roles in microtubule regulation and neural cell migration suggesting an overlapping pathomechanism for JME.
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| Free Research Field |
神経遺伝学
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