Genetic analysis of Familial cryptogenic West syndrome.
Project/Area Number |
25461542
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Fujita Health University (2014-2015) Nagoya University (2013) |
Principal Investigator |
ISHIHARA Naoko 藤田保健衛生大学, 医学部, 講師 (30393143)
|
Co-Investigator(Kenkyū-buntansha) |
NATSUME Jun 名古屋大学, 大学院医学系研究科・障害児者医療学, 教授 (60422771)
|
Co-Investigator(Renkei-kenkyūsha) |
OHNO Kinji 名古屋大学大学院医学系研究科, 神経遺伝情報学, 教授 (80397455)
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Project Period (FY) |
2013-04-01 – 2016-03-31
|
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: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
|
Keywords | West症候群 / 網羅的遺伝子解析 / LGI2 / 潜因性West症候群 / 遺伝子解析 / 家族内発症 |
Outline of Final Research Achievements |
In this study, we performed genetic analysis of a familial case of West syndrome which has no neurological deficit before the onset of the seizures, and no sequela after the treatment. Family 1: Two of three brothers were affected. We found low frequency X-linked SNV from the affected brothers and their mother. Family 2: Mother and one of daughters were affected. Genetic analysis led to the identification of five candidate genes, and we found one of these genes (Leucine-rich gene glioma-inactivated 2; LGI2) had reported as causal for familial epilepsy in childhood with dogs. There is no previous report of LGI2 in human epilepsy syndromes, however we suggest that it may be one of the causal genes of familial West syndrome.
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Report
(4 results)
Research Products
(20 results)
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[Journal Article] White Matter Abnormality Correlates with Developmental and Seizure Outcomes in West Syndrome of Unknown Etiology2015
Author(s)
Natsume J, Ogawa C, Fukasawa T, Yamamoto H, Ishihara N, Sakaguchi Y, Ito Y, Takeuchi T, Azuma Y, Ando N, Kubota T, Tsuji T, Kawai H, Naganawa S, Kidokoro H
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Journal Title
American Journal of Neuroradiology
Volume: 37
Issue: 4
Pages: 698-705
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] PET in infancy predicts long-term outcome during adolescence in cryptogenic West syndrome.2014
Author(s)
Natsume J, Maeda N, Itomi K, Kidokoro H, Ishihara N, Takada H, Okumura A, Kubota T, Miura K, Aso K, Morikawa T, Kato K, Negoro T, Watanabe K.
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Journal Title
Am J Neuroradiol.
Volume: 35
Issue: 8
Pages: 1580-5
DOI
Related Report
Peer Reviewed
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[Journal Article] PET in Infancy Predicts Long-Term Outcome during Adolescence in Cryptogenic West Syndrome2014
Author(s)
J. Natsume, N. Maeda, K. Itomi, H. Kidokoro, N. Ishihara, H. Takada, A. Okumura, T. Kubota, K. Miura, K. Aso, T. Morikawa, K. Kato, T. Negoro, and K. Watanabe
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Journal Title
AJNR Am J Neuroradiol
Volume: in press
Related Report
Peer Reviewed
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[Presentation] Two cases of lissencephaly with marked hydrocephalus caused by TUBA1A mutation.2014
Author(s)
Naoko Ishihara1,2, Setsuri Yokoi2,3, Hiroyuki Yamamoto2, Jun Natsume2, Makiko Tsutsumi3, Tamae Ohye3, Mitsuhiro Kato4, Shinji Saitoh5, Hiroki Kurahashi3
Organizer
American Society for Human Genetics 2014
Place of Presentation
San Diego, CA
Year and Date
2014-10-18 – 2014-10-22
Related Report
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[Presentation] The difference of side effects according to age during ACTH therapy2013
Author(s)
Naoko Ishihara, Jun Natsume, Chikako Ogawa, Tomoya Takeuchi, Hiroyuki Yamamoto, Yoshiteru Azuma, Hiroyuki Kidokoro, Kiyokuni Miura, Tamiko Negoro, Kazuyoshi Watanabe
Organizer
30th International epilepsy Congess
Place of Presentation
Montreal, Canada
Related Report
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[Presentation] FDG-PET in infancy predicts long-term outcome during adolescence in cryptogenic West syndrome.2013
Author(s)
Natsume J, Maeda N, Itomi K, Ishihara N, Okumura A, Kubota T, Miura K, Aso K, Morikawa T, Kato K, Negoro T, Watanabe K.
Organizer
30th International Epilepsy Congress.
Place of Presentation
Montreal, Canada
Related Report
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[Presentation] TBSS analysis of diffusion tensor imaging in cryptogenic West syndrome : Comparison with PET hypometabolism.2013
Author(s)
Natsume J, Ogawa C, Fukasawa T, Yamamoto H, Kidokoro H, Yokoi S, Takeuchi T, Azuma Y, Ishihara N, Ando N, Kubota T, Negoro T, Watanabe K.
Organizer
67th annual meeting of the American Epilepsy Society.
Place of Presentation
Washington D.C., USA
Related Report
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[Presentation] Diffusion tensor imaging in cryptogenic West syndrome : Tract-based spatial statistics analysis at onset.2013
Author(s)
Ogawa C, Natsume J, Ishihara N, Kidokoro H, Azuma Y, Yokoi S, Yamamoto H, Takeuchi T, Miura K, Negoro T, Watanabe K.
Organizer
第47回日本てんかん学会
Place of Presentation
北九州国際会議場(北九州市)
Related Report
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[Presentation] Diffusion tensor imaging in cryptogenic West syndrome : Tract-based spatial statistics analysis at onset.2013
Author(s)
Ogawa C, Natsume J, Fukasawa T, Yamamoto H, Kidokoro H, Yokoi S, Takeuchi T, Azuma Y, Ishihara N, Ando N, Kubota T, Negoro T, Watanabe K.
Organizer
67th annual meeting of the American Epilepsy Society.
Place of Presentation
Washington D.C., USA
Related Report
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