| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Research Abstract |
To clarify genetic background of West syndrome, genome copy number variations were studied in 51 cases of West syndrome with minor anomalies and development delay by the microarray CGH method.
The abnormalities of genome copy number were detected in three cases of those. One of those copy number abnormalities includes a gene reported in a case with epilepsy and mental retardation. By screening of all exons using high resolution melting (HRM), a gene mutation associated with epilepsy and cortical dysplasia was detected in the gene.
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