Molecular pathophysiology of neurodevelopmental disorders associated with mutations in the genes encoding voltage-gated sodium channels
| Project/Area Number |
25461572
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Nippon Medical School (2015)
The Institute of Physical and Chemical Research (2013-2014) |
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Principal Investigator |
OGIWARA Ikuo 日本医科大学, 医学部, 准教授 (30373286)
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| Research Collaborator |
MAZAKI Emi 理化学研究所, 脳科学総合研究センター, 技術員
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | トランスレーショナルリサーチ / 知的障害 / てんかん / 自閉症スペクトラム障害 / ナトリウムチャネル遺伝子 / てんかん性脳症 / 興奮性神経細胞 / 抑制性神経細胞 / 脳・神経 / 神経科学 |
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| Outline of Final Research Achievements |
De novo mutations of the SCN2A encoding a voltage-gated sodium channel Nav1.2 have been associated with epileptic encephalopathy, autism spectrum disorder and intellectual disability. We here found that, in mouse brain, SCN2A was expressed in excitatory neurons and subsets of inhibitory neurons. We also found that mice with a conditional SCN2A deletion in excitatory neurons and those in inhibitory neurons showed normal threshold for seizures induced by chemoconvulsant. We furthermore found that SCN2A knockout mice had deficits in spatial learning and memory, showed enhanced consolidation and decreased extinction of fear-related memory.
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Report
(4 results)
Research Products
(17 results)
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[Journal Article] Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum.2014
Author(s)
Miyazaki H, Oyama F, Inoue R, Aosaki T, Abe T, Kiyonari H, Kino Y, Kurosawa M, Shimizu J, Ogiwara I, Yamakawa K, Koshimizu Y, Fujiyama F, Kaneko T, Shimizu H, Nagatomo K, Yamada K, Shimogori T, Hattori N, Miura M, Nukina N.
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Journal Title
Nat Commun.
Volume: 5
Issue: 1
Pages: 5525-5525
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.2013
Author(s)
Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K.
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Journal Title
Hum Mol Genet.
Volume: 22
Issue: 23
Pages: 4784-4804
DOI
Related Report
Peer Reviewed
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[Presentation] Neuron-type-specific gene deletion reveals a previously unrecognized Nav1.1 distribution in excitatory neurons2014
Author(s)
Ogiwara, I., Iwasato, T., Yamagata, T., Mazaki, E., Yanagawa, Y., Tamamaki, N., Itohara, S., Yamakawa, K.
Organizer
第36回日本神経科学大会
Place of Presentation
パシフィコ横浜、横浜
Year and Date
2014-09-12
Related Report
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[Presentation] Nav1.1 haploinsufficient excitatory and inhibitory neurons play distinct roles in epilepsy
Author(s)
Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K
Organizer
第36回日本神経科学大会
Place of Presentation
京都府京都市国立京都国際会館
Related Report
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[Presentation] Nav1.1 haploinsufficient excitatory and inhibitory neurons play distinct roles in the epileptic pathology in Dravet syndrome model mice
Author(s)
Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa
Organizer
Neuroscience 2013
Place of Presentation
San Diego Convention Center, San Diego, CA, USA
Related Report
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