Molecular pathology of epilepsy associated with mutations of voltage-gated sodium channel gene
| Project/Area Number |
21791020
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | The Institute of Physical and Chemical Research |
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Principal Investigator |
OGIWARA Ikuo The Institute of Physical and Chemical Research, 神経遺伝研究チーム, 研究員 (30373286)
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| Project Period (FY) |
2009 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2009: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | てんかん / ナトリウムチャネル遺伝子 / 抑制性神経細胞 / 興奮性神経細胞 / 脳・神経 / 神経科学 / 脳神経疾患 / 電位依存性ナトリウムチャネル |
|---|
| Research Abstract |
Mutations in SCN1A gene encoding voltage-gated sodium channel α1, Na_v1.1, cause severe myoclonic epilepsy in infancy (SMEI, also known as Dravet syndrome). We here demonstrated that selective Na_v1.1 elimination in inhibitory neurons was sufficient to trigger epileptic seizures a. In contrast, selective Na_v1.1 elimination in excitatory neurons did not result in epileptic seizures. The results indicate that altered functions of the inhibitory circuits predominantly contributed to epileptic seizures in mice, in good agreement with our hypothesis proposed previously.
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Report
(3 results)
Research Products
(22 results)
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[Journal Article] Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.2010
Author(s)
Nakayama T, Ogiwara I(共筆頭著者), Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K.
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Journal Title
Human Mutation 31(7)
Pages: 820-829
Related Report
Peer Reviewed
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[Journal Article] De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies.2009
Author(s)
Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.
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Journal Title
Neurology 73(13)
Pages: 1046-1053
Related Report
Peer Reviewed
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