2011 Fiscal Year Final Research Report
Molecular mechanism of age-dependent epileptic encephalopathy and the development of its molecular chaperone treatment
| Project/Area Number |
21591312
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
NAKAMURA Kazuyuki 鳥取大学, 医学部, 助教 (20436215)
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| Co-Investigator(Renkei-kenkyūsha) |
GOTO Kaoru 山形大学, 医学部, 教授 (30234975)
MATSUMOTO Naomichi 横浜市立大学, 大学院・医学研究科, 教授 (80325638)
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| Project Period (FY) |
2009 – 2011
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| Keywords | てんかん / ウエスト症候群 / 大田原症候群 / 介在ニューロン / 遺伝子 / ポリアラニン / 分子シャペロン / ARX |
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| Research Abstract |
Two frameshift mutations in the terminal exon of the ARX gene were identified in two familial cases of idiopathic Ohtahara syndrome. The mutations demolish the aristaless domain, which activates its transcriptional function, and are supposed to be a gain-of-function mutation like an expansion mutation of the polyalanine tract. These findings revealed the molecular pathology of the relationship between Ohtahara syndrome and West syndrome, which was clinically assumed.
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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)
DOI
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)
Pages: 2879-2884
DOI
Peer Reviewed
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[Journal Article] Paternal mosaicism of an STXBP1 mutation in OS2011
Author(s)
Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N
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Journal Title
Clin Genet
Volume: 80(5)
Pages: 484-8
DOI
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 S, Ogata K, Kato
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Journal Title
Am J Hum Genet
Volume: 86(6)
Pages: 881-891
Peer Reviewed
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[Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern2010
Author(s)
Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N
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Journal Title
Epilepsia
Volume: 51(12)
Pages: 2397-2405
DOI
Peer Reviewed
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