2011 Fiscal Year Final Research Report
Genetic modifiers of an intractable epilepsy with channel gene mutations
| Project/Area Number |
21390312
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Okayama University |
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Principal Investigator |
OMORI Iori 岡山大学, 大学院・医歯薬学総合研究科, 助教 (20403488)
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| Co-Investigator(Kenkyū-buntansha) |
OUCHIDA Mamoru 岡山大学, 大学院・医歯薬学総合研究科, 准教授 (80213635)
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| Co-Investigator(Renkei-kenkyūsha) |
MASHIMO Tomoji 京都大学, 医学系研究科, 准教授 (80397554)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 小児神経学 / てんかん / チャネル / 難治 / パッチクランプ / SCN1A / CACNA1A |
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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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Research Products
(30 results)
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[Journal Article] Acute Encephalopathy in Children with Dravet Syndrome2011
Author(s)
Okumura A, Uematsu M, Imataka G, Tanaka M, OkanishiT, KubotaT, SudoA, Tohyama J, Tsuji M, Ohmori I, Naiki M, Hiraiwa-Sofue A, Sato H, Saitoh S, Shimizu T
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Journal Title
Epilepsia
Volume: 53(1)
Pages: 79-86
Peer Reviewed
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[Journal Article] A missense mutation of the gene encoding voltage-dependent sodium channel(Na_v1. 1) confers susceptibility to febrile seizures in rats2010
Author(s)
Mashimo T, Ohmori I, Ouchida M, Ohno Y, Tsurumi T, Miki T, Wakamori M, Takizawa A, Kato M, Hirabayashi M, Sasa M, Mori Y, Serikawa T
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Journal Title
J Neurosci
Volume: 30
Pages: 5744-5753
Peer Reviewed
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[Journal Article] ナトリウムチャネル遺伝子Scn1a変異ラットの開発解析研究2010
Author(s)
芹川忠夫, 大守伊織, 大内田守, 大野行弘, 鶴見東志子, 三木崇史, 若森実, 石原靜, 吉田卓史, 滝沢明子, 加藤めぐみ, 平林真澄, 笹征史, 森泰生, 真下知士
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Journal Title
てんかん治療研究振興財団研究年報
Volume: 第21集
Pages: 29-36
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