| 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 |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Fujita Health University (2014-2015)
Nagoya University (2013) |
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Principal Investigator |
ISHIHARA Naoko 藤田保健衛生大学, 医学部, 講師 (30393143)
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| 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)
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| 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
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| 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)
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| 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 |
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| 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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