2015 Fiscal Year Final Research Report
Whole Exome sequencing for genetic modifiers associated with phenotype of epileptic encephalopathy
| Project/Area Number |
26860781
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Keywords | てんかん / 遺伝子 / 小児神経学 / 脳形成異常 |
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| Outline of Final Research Achievements |
We analyzed with genetic basis of epileptic encephalopathy using whole exome sequencing. First, we identified GRIN2A mutations in two families: atypical Rett syndrome and unclassified epileptic encepalopathy. Our study suggests that GRIN2A mutations can be associated with atypical Rett syndrome. A variety of severity is to be noted in patients with GRIN2A mutations.
Secondly, we found compound heterozygous ASPM mutations in a case of primary microcephaly and epilepsy. This patient showed more severe intelectual disability and motor delay than individuals with ASPM mutations previously reported, and pachygyria with frontal lobe predominance. Our findings expand the variable severity of cortical malformations in patients with ASPM mutations, and suggest that frontal lesion predominance may be characteristic for ASPM mutations.
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| Free Research Field |
小児神経学
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