| 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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| 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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