| Budget Amount *help |
¥24,960,000 (Direct Cost: ¥19,200,000、Indirect Cost: ¥5,760,000)
Fiscal Year 2012: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
Fiscal Year 2011: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
Fiscal Year 2010: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
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| Research Abstract |
We demonstrated that mutations in SPTAN1 cause West syndrome with myelination delay and atrophy of brain thought identification of a de novo microdeletion in a patient. We also clarified breakpoints of two balanced translocations, demonstrating involvement of abnormalities of SRGAP2 and MEF2C in epileptic encephalopathy. In addition, by whole exome sequencing, we identified mutations in KCNQ2 and CASK in patients with Ohtahara syndrome.
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