Comprehensive gene analysis of acute encephalopathy to elucidate its variability and commonality
Project/Area Number |
24390258
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Partial Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | The University of Tokyo |
Principal Investigator |
MIZUGUCHI Masashi 東京大学, 医学(系)研究科(研究院), 教授 (20209753)
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Co-Investigator(Kenkyū-buntansha) |
TAKANASHI Jun-ichi 東京女子医科大学, 八千代医療センター, 教授 (00302555)
SAITOH Makiko 東京大学, 大学院医学系研究科, 助教 (20225733)
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Co-Investigator(Renkei-kenkyūsha) |
HIROSE Shin-ichi 福岡大学, 医学部, 教授 (60248515)
YAMANOUCHI Hideo 埼玉医科大学, 医学部, 教授 (10250226)
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Project Period (FY) |
2012-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
Fiscal Year 2014: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2012: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
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Keywords | 急性脳症 / 遺伝子多型 / 遺伝子変異 / 自然免疫 / 神経興奮 / 急性壊死性脳症 / けいれん重積型(二相性)急性脳症 / 難治頻回部分発作重積型急性脳炎 / HHE症候群 / 遺伝子解析 / サイトカイン / イオンチャネル / けいれん重積型急性脳症 / HLA / 難治頻回部分発作重積型脳炎 / アデノシン |
Outline of Final Research Achievements |
Acute encephalopathy is classified into multiple syndromes, such as acute necrotizing encephalopathy (ANE), acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and acute encephalitis with refractory, repetitive partial seizures (AERRPS). To elucidate the molecular background of their variability and commonality, we conducted a comprehensive gene analysis and functional analysis. Risk gene variants specific to individual syndromes included HLA genotypes, IL6 and IL10 polymorphisms for ANE, ADORA2A and IL1B polymorphisms for AESD, and SCN2A polymorphism for AERRPS. Risk variants relevant to multiple syndromes included CPT2 and IL1RN polymorphisms and missense SCN1A mutations. Most factors were involved in either innate immunity or neuronal excitation.
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Report
(5 results)
Research Products
(66 results)
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[Journal Article] Clinical and genetic features of acute encephalopathy in children taking theophylline.2015
Author(s)
Saitoh M, Shinohara M, Ishii A, Ihara Y, Hirose S, Shiomi M, Kawawaki H, Kubota M, Yamagata T, Miyamoto A, Yamanaka G, Amemiya K, Kikuchi K, Kamei A, Akasaka M, Anzai Y, Mizuguchi M.
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Journal Title
Brain Dev
Volume: 37
Issue: 5
Pages: 463-70
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Acute encephalopathy with callosal, subcortical and thalamic lesions.2015
Author(s)
Nakano Y, Monden Y, Mizuguchi M, Nagashima M, Koike Y, Gunji Y, Takahashi N, Sugie H, Momoi, M.Y.
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Journal Title
Neurology Asia
Volume: 20
Pages: 85-89
Related Report
Peer Reviewed
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[Journal Article] Neonatal herpes encephalitis caused by a virologically confirmed acyclovir resistant herpes simplex virus type 12013
Author(s)
Kakiuchi S, Nonoyama S, Wakamatsu H, Kogawa K, Wang L, Kinoshita-Yamaguchi H, Takayama-Ito M, Lim CK, Inoue N, Mizuguchi M, Igarashi T, Saijo M
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Journal Title
J. Clin. Microbiol
Volume: 51
Issue: 1
Pages: 356-9
DOI
Related Report
Peer Reviewed
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[Journal Article] Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes2011
Author(s)
Hoshino A, Saitoh M, Oka A, Okumura A, Kubota M, Saito Y, Takanashi J, Hirose S, Yamagata T, Yamanouchi H, Mizuguchi M
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Journal Title
Brain Dev
Volume: 34
Issue: 5
Pages: 337-343
DOI
Related Report
Peer Reviewed
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[Presentation] けいれん重積型急性脳症におけるナトリウムチャネルSCN1AおよびSCN2A変異解析2014
Author(s)
齋藤真木子, 石井敦士, 井原由紀子, 星野愛, 寺嶋宙, 久保田雅也, 山中岳, 河島尚志, 菊池健二郎, 雨宮馨,亀井淳,廣瀬伸一,水口雅
Organizer
第56回日本小児神経学会学術集会
Place of Presentation
アクトシティ浜松(静岡県)
Year and Date
2014-05-29 – 2014-05-31
Related Report
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[Presentation] RANBP2, CPT-II遺伝子変異を認めなかった急性脳症の兄弟例.2013
Author(s)
西村尚子, 樋口嘉久, 井口牧子, 木村暢佑, 野崎章仁, 熊田知浩, 藤井達哉, 星野愛, 齋藤真木子,水口雅
Organizer
第55回日本小児神経学会学術集会
Place of Presentation
iichiko総合文化センター(大分県)
Related Report
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[Presentation] テオフィリン関連急性脳症における遺伝的素因.2012
Author(s)
篠原麻由, 斎藤真木子, 山中岳, 雨宮馨, 久保田雅也, 山形崇倫, 菊池健二郎, 川脇寿, 亀井淳, 赤坂真奈美, 安西有紀, 塩見正司, 水口雅, 山内秀雄.
Organizer
第54回日本小児神経学会総会
Place of Presentation
ロイトン札幌(北海道)
Year and Date
2012-05-18
Related Report
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[Presentation] 急性壊死性脳症における遺伝的素因2012
Author(s)
星野愛, 斎藤真木子, 篠原麻由, 長嶋雅子, 吉田健司, 加藤竹雄, 豊島光雄, 李守永, 水口雅
Organizer
第54回日本小児神経学会総会
Place of Presentation
ロイトン札幌(北海道)
Year and Date
2012-05-17
Related Report
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[Presentation] 急性脳症におけるSCN1A遺伝子解2012
Author(s)
斎藤真木子, 篠原麻由, 星野英紀, 久保田雅也, 雨宮馨, 高梨潤一, 黄壽梛, 廣瀬伸一, 水口雅.
Organizer
第54回日本小児神経学会総会
Place of Presentation
ロイトン札幌(北海道)
Year and Date
2012-05-17
Related Report
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