Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2025: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2024: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2023: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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Outline of Research at the Start |
CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder caused by pathogenic mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. About 90% of patients display early-onset refractory seizures. However, little is known about the molecular and neural basis underlying seizures in CDD. The spontaneous seizures are present in Cdkl5 knockout mice on a C57BL/6J but absent on a C57BL/6N background, suggesting that genetic modifier(s) may influence seizure susceptibility. We will identify modifier gene(s) and characterize their physiological functions in Cdkl5 knockout mice.
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