Genetic and Clinical Investigation of Japanese Females with PCDH19 Abnormality
| Project/Area Number |
22791011
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Fukuoka University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | てんかん / 精神遅滞 / 女性 / 遺伝子 |
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| Research Abstract |
We performed genetic analysis of PCDH19 in many Japanese females with epilepsies, and identified point mutations in 18 patients and 4 affected relatives and PCDH19 deletion in 2 patients. Their seizures started at 4.25 months of age. The central clinical feature was recurrent seizure clusters associated with fever. The duration of each seizure was brief. Seizures were tonic, tonic-clonic, and focal seizures often with generalization. Seizures often persisted until puberty and disappeared mainly during the teenage years. The patients often showed intellectual disability, and, in some, autistic features and hyperactive behavior.
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Report
(3 results)
Research Products
(15 results)
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[Journal Article] PCDH19 mutation in Japanese females with epilepsy2011
Author(s)
Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S.
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Journal Title
Epilepsy Res
Volume: 99巻
Pages: 28-37
Related Report
Peer Reviewed
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