| Budget Amount *help |
¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000)
Fiscal Year 2011: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2010: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Fiscal Year 2009: ¥8,060,000 (Direct Cost: ¥6,200,000、Indirect Cost: ¥1,860,000)
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| Research Abstract |
Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na_v1. 1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome.
We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syndrome. Nine CACNA1A variants, including six novel ones, were detected in 21 of 48 subjects(43. 8%). The electrophysiological properties of four of the five novel Ca_v2. 1 variants exhibited biophysical changes consistent with gain-of-function.
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