A preliminary study of genetic analysis of surgical specimens from patients with focal cortical dysplasia.

局灶性皮质发育不良患者手术标本遗传分析的初步研究。

• 批准号: 23791620
• 负责人: SAITO Takashi
• 金额: $ 2.58万
• 依托单位: National Center of Neurology and Psychiatry
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23791620/
• 关键词: 皮質形成異常; てんかん; 皮質形成異常症; 難治性てんかん; 難治てんかん

CCortical dysplasia is a congenital anomaly, often causing intractable epilepsy in children and greatly affecting their development. A clear understanding of the underlying cause is necessary for developing treatment and prevention strategies for cortical dysplasia. We postulated that cortical dysplasia is caused by somatic mutations in cortical neurons at a certain stage of embryonic development. Based on this hypothesis, we attempted to compare the genome of cortical dysplasia tissue and healthy tissue from the same patient. Array comparative genomic hybridization (array CGH) and whole-exome sequencing were performed using DNA from the lesion and healthy blood samples from the same patient. Array CGH and exome sequencing failed to detect causal chromosomal abnormalities or causal genes. We surmise that to detect genetic abnormalities in patients with cortical dysplasia, lesions with a high incidence of somatic mutations should be used for genetic analysis.

C皮质发育不良是一种先天性异常，常引起儿童顽固性癫痫，严重影响其发育。清楚地了解根本原因对于制定皮质发育不良的治疗和预防策略是必要的。我们推测皮质发育不良是由胚胎发育某一阶段皮质神经元的体细胞突变引起的。基于这一假设，我们尝试比较同一患者的皮质发育不良组织和健康组织的基因组。使用来自同一患者的病变和健康血液样本的 DNA 进行阵列比较基因组杂交（阵列 CGH）和全外显子组测序。阵列 CGH 和外显子组测序未能检测到因果染色体异常或因果基因。我们推测，要检测皮质发育不良患者的遗传异常，应使用体细胞突变发生率高的病变进行遗传分析。

项目成果

Irahara K, Saito Y, Sugai K, Nakagawa E, Saito T, Komaki H, Nabatame S, Kaneko Y, Hotate M, Sasaki M.

Irahara K、Saito Y、Sugai K、Nakakawa E、Saito T、Komaki H、Nabatame S、Kaneko Y、Hotate M、Sasaki M。

• DOI: 10.1016/j.eplepsyres.2011.05.007
• 发表时间: 2011
• 期刊: Epilepsy Research
• 影响因子: 2.2
• 作者: Motoo Nagane;Keiichi Kobayashi;Nobuyuki Takayama;Yoshiaki Shiokawa;Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy
• 通讯作者: Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy

LATE-ONSET EPILEPSY IN CHILDREN AFTER ACUTE FEBRILE ENCEPHALOPATHY WITH PROLONGED CONVULSIONS

急性发热性脑病伴长期惊厥后儿童迟发性癫痫

• 发表时间: 2013
• 作者: Saito T;Saito Y;Sugai K;Nakagawa E;Komaki H;Kaneko Y;Kaido T;Takahashi A;Otsuki T;Sakuma H;Sasaki M
• 通讯作者: Sasaki M

Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study.

急性发热性脑病伴长期惊厥儿童迟发性癫痫：临床和脑病学研究。

• DOI: 10.1016/j.braindev.2012.08.007
• 发表时间: 2013
• 期刊: Brain Dev
• 作者: Saito T;Saito Y;Sugai K;Nakagawa E;Komaki H;Okazaki T;Ishido Y;Kaneko Y;Kaido T;Takahashi A;Ohtsuki T;Sakuma H;Sasaki M
• 通讯作者: Sasaki M

乳児期に不随意運動で発症したDRPLAの15歳女性例

一名 15 岁女性因婴儿期不自主运动而患有 DRPLA 的病例。

• 发表时间: 2012
• 作者: 齋藤貴志;榎園崇;斎藤義朗;小牧宏文;中川栄二;須貝研司;佐々木征行;澁谷 誠;齊藤祐子
• 通讯作者: 齊藤祐子