Identification of responsive genes for age-dependent infantile epileptic encephalopathy
| Project/Area Number |
22689011
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | Yokohama City University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥24,960,000 (Direct Cost: ¥19,200,000、Indirect Cost: ¥5,760,000)
Fiscal Year 2012: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
Fiscal Year 2011: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
Fiscal Year 2010: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
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| Keywords | ゲノムマイクロアレイ / 次世代シークエンサー / エクソーム解析 / 大田原症候群 / ウエスト症候群 / 早期発症てんかん性脳症 / ゲノム / 年齢依存性てんかん性脳症 / KCNQ2 / CASK / CDKL5 / 転座 / SRGAP2 / MEF2C / SPTAN1 / 乳児 / West症候群 / STXBP1 |
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| Research Abstract |
We demonstrated that mutations in SPTAN1 cause West syndrome with myelination delay and atrophy of brain thought identification of a de novo microdeletion in a patient. We also clarified breakpoints of two balanced translocations, demonstrating involvement of abnormalities of SRGAP2 and MEF2C in epileptic encephalopathy. In addition, by whole exome sequencing, we identified mutations in KCNQ2 and CASK in patients with Ohtahara syndrome.
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Report
(4 results)
Research Products
(42 results)
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[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
Author(s)
Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
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Journal Title
Am J Med Genet A
Volume: (in press)
Issue: 1
Pages: 2879-84
DOI
Related Report
Peer Reviewed
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[Journal Article] De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy2011
Author(s)
Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matsumoto N
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Journal Title
Am J Med Genet A
Volume: 155A(11)
Issue: 11
Pages: 2879-2884
DOI
Related Report
Peer Reviewed
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[Journal Article] Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay2010
Author(s)
Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai SI, Ogata K, Kato M, Fukuda A, Matsumoto N
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Journal Title
Am J Hum Genet
Volume: 86
Issue: 6
Pages: 881-891
DOI
Related Report
Peer Reviewed
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