Genetic study epilepsies and febrile convulsions

癫痫和热性惊厥的遗传学研究

• 批准号: 07307013
• 负责人: KANEKO Sunao
• 金额: $ 14.66万
• 依托单位: Hirosaki University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (A)
• 财政年份: 1995
• 资助国家: 日本
• 起止时间: 1995 至 1996
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07307013/
• 关键词: epilepsy; febrile convulsions; gene; linkage analysis; chromosome; 家系調査; 遺伝形式

Epilepsy comprises a group of syndromes with clinical and etiologic heterogeneity and multifactorial pathogenesis. Family and twin studies have shown that genetic factors play a major role in the etiology of idiopathic generalized epilepsies. This project was organized for the study of epilepsy gene analysis.The epilepsies selected were idipathic epilepsies, benign adult familial myoclonic epilepsy, benign infantile familial convulsions, severe myoclonic epilepsy in infancy and febrile convulsions. Inclusion and exclusion criteria have been decided for each epilepsy. We have reported the results of clinical genetic study and established clinical definition criteria for benign adult familial myoclonic epilepsy (BAFME). The lack of linkage between BAFME and dentatorubral-pallidoluysian atrophy has been found, and gene loci or locus of BAFME will be reported shortly. Our linkage analysis for other types of epilespsies are now going on, and we will be able to map loci of these epilepsies on chromosomes in the near future.

癫痫包括一组具有临床和病因异质性和多因素发病机制的综合征。家族和双胞胎研究表明，遗传因素在特发性全身性癫痫的病因中起主要作用。本课题是为癫痫基因分析而组织的，研究对象包括特发性癫痫、良性成人家族性肌阵挛癫痫、良性婴幼儿家族性惊厥、婴儿期重度肌阵挛和热性惊厥。已经为每一种癫痫确定了纳入和排除标准。我们报告了良性成人家族性肌阵挛癫痫(BAFME)的临床遗传学研究结果和临床定义标准。BAFME与齿状核-苍白球萎缩之间缺乏联系已被发现，BAFME的一个或多个基因位点将很快被报道。我们对其他类型癫痫的连锁分析现在正在进行中，我们将能够在不久的将来将这些癫痫的基因定位在染色体上。

项目成果

Sunao Kaneko, et al: "Epilepsy and genetics" Psychiatry and Clinical Neurosciences. 49・3. 199-200 (1995)

Sunao Kaneko 等人：“癫痫和遗传学”精神病学和临床神经科学 49·3（1995）。

Akihisa Okumura, et al: "Periventricular leukomalacia and West syndrome" Development and Medicne and Child Neurology. 38. 13-18 (1996)

Akihisa Okumura 等人：“脑室周围白质软化症和 West 综合征”发展与医学和儿童神经病学。

Osamu Onodera, et al: "Molecular cloning of full‐length cDNA for dentatorubral‐pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS" Am. J. Hum. Genet.57. 1050-1060 (1995)

Osamu Onodera 等人：“齿状红核苍白球萎缩的全长 cDNA 的分子克隆和中枢神经系统中扩展等位基因的区域表达”Am.Genet.57（1995）。

A Kuwano, et al: "Benign adult familial myoclonus epilepsy (BAFME) : an autosomal dominant form not liked to dentatorubral pallidoluysian atrophy (DRPLA) gene" J Med Genet. 33. 80-81 (1996)

A Kuwano 等人：“良性成人家族性肌阵挛癫痫 (BAFME)：一种常染色体显性遗传形式，不喜欢齿状核红斑苍白卢伊体萎缩 (DRPLA) 基因”J Med Genet。

Kazuo Nomura,Hajime Nakano,et al.: "A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction." Acta Derm.Venereol.(Stockh). 75. 340-342 (1995)

Kazuo Nomura、Hajime Nakano 等人：“利用聚合酶链式反应对 X 连锁鱼鳞病家族中的类固醇硫酸酯酶基因进行研究。”