Development of genetically engineered animal models and novel therapeutic measures for human Epilepsy

人类癫痫基因工程动物模型的开发和新的治疗措施

• 批准号: 21249062
• 负责人: HIROSE Shinichi
• 金额: $ 25.46万
• 依托单位: Fukuoka University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (A)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-21249062/
• 关键词: 小児神経学; チャネル; 受容体; てんかん; 中枢神経; 遺伝子

We have identified over 100 genetic abnormalities which cause epilepsy in our DNA bank. We have also successfully genetically engineered mice which harbor genetic abnormalities identified in human. These outcomes have established a system which allows rapid and continuous identification and analyses of genetic abnormalities in individuals with epilepsy. Now novel therapeutic measures based upon the pathogeneses of epilepsy are being developed.

我们在 DNA 库中发现了超过 100 种导致癫痫的基因异常。我们还成功地对小鼠进行了基因改造，使其具有人类发现的遗传异常。这些结果建立了一个系统，可以快速、连续地识别和分析癫痫患者的遗传异常。现在正在开发基于癫痫发病机制的新治疗措施。

项目成果

On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation

具有错义突变的 Dravet 综合征中 SCN1A 微缺失或重复的可能性

• DOI: 10.1016/j.braindev.2011.11.005
• 发表时间: 2011
• 期刊: Brain Dev
• 作者: Shi X;Wang J;Kurahashi H;Ishii A;Higurashi N;Kaneko s;Hirose S
• 通讯作者: Hirose S

The development of the DNA chip which aimed at the clinical application in epilepsy

面向癫痫临床应用的DNA芯片的研制

• 发表时间: 2011
• 作者: Sugawara T.;Yoshida S.;Wada K.;Hirose S.;Iwasa H.;Kaneko S.
• 通讯作者: Kaneko S.

Genetics of Human Epilepsy

人类癫痫的遗传学

• 发表时间: 2010
• 作者: Mimori K.;et al;廣瀬伸一
• 通讯作者: 廣瀬伸一

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

Dravet 综合征早期死亡发生率的回顾性多机构研究

• DOI: 10.1111/j.1528-1167.2011.03053.x
• 发表时间: 2011
• 期刊: Epilepsia
• 影响因子: 5.6
• 作者: Sakauchi M,Oguni H;Kato I;Osawa M;Hirose S;Kaneko S;Takahashi Y;Takayama R;Fujiwara T
• 通讯作者: Fujiwara T

Diagnosing nocturnal frontal lobe epilepsy: A case study of two children

诊断夜间额叶癫痫：两个儿童的案例研究

• DOI: 10.1016/j.seizure.2011.03.004
• 发表时间: 2011
• 期刊: Seizure
• 作者: Tomonoh Y;Yasumoto S;Ihara Y;Fujita T;Nakamura N;Ninomiya S;Kodama R;Ideguchi H;Inoue T;Mitsudome A;Hirose S
• 通讯作者: Hirose S