Research on PCDH19 female epilepsy by using patient-derived iPS cells and a rat model
| Project/Area Number |
24791095
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Jikei University School of Medicine (2013-2014)
Fukuoka University (2012) |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
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| Keywords | てんかん / 女性 / 遺伝子 / 疾患モデル動物 / 免疫 / 血液脳関門 / 接着分子 / 小児 / iPS細胞 / 脳血液関門 |
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| Outline of Final Research Achievements |
To elucidate the pathogenic mechanisms and effective treatments of PCDH19 female epilepsy, we established 1) patient-derived iPS cells and 2) a model rat, and 3) further investigated the clinical aspects of newly identified patients. 1) We compared iPS cell-derived neurons among a normal control cell line, paternal X (mutated PCDH19)-active patient cell lines, and maternal X (wild type PCDH19)-active patient cell lines focusing on their morphology and PCDH19 expression. However, no significant pathogenic alteration was detected. 2) A Pcdh19-knockout rat was successfully established by using the TALEN technology and will be used for our future research. 3) We newly identified more than 20 Japanese patients and deepened our understanding of the clinical aspects of PCDH19 female epilepsy, specifically initial seizure characteristics, an excellent efficacy of corticosteroids for seizure clusters, and a possible involvement of immune processes in the pathogenic mechanisms.
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Report
(4 results)
Research Products
(31 results)
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[Journal Article] Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.2015
Author(s)
Higurashi N, Takahashi Y, Kashimada A, Sugawara Y, Sakuma H, Tomonoh Y, Inoue T, Hoshina M, Satomi R, Ohfu M, Itomi K, Takano K, Kirino T, Hirose S.
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Journal Title
Seizure
Volume: 27
Pages: 1-5
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.2013
Author(s)
Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S.
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Journal Title
Epilepsy Res
Volume: 106
Issue: 1-2
Pages: 191-199
DOI
Related Report
Peer Reviewed
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[Journal Article] A human Dravet syndrome model from patient induced pluripotent stem cells.2013
Author(s)
Higurashi N, Uchida T, Lossin C, Misumi Y, Okada Y, Akamatsu W, Imaizumi Y, Zhang B, Nabeshima K, Mori MX, Katsurabayashi S, Shirasaka Y, Okano H, Hirose S.
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Journal Title
Mol Brain
Volume: 6
Issue: 1
Pages: 19-19
DOI
Related Report
Peer Reviewed
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