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ISOLATION OF THE BALTIC PROGRESSIVE MYOCLONUS EPILEPSY GENE (EPMI)

ISOLATION OF THE BALTIC PROGRESSIVE MYOCLONUS EPILEPSY GENE (EPMI)
波罗的海进行性肌阵挛癫痫基因 (EPMI) 的分离
批准号：
6297092
负责人：
Margit Burmeister
金额：
$0.02万
依托单位：
UNIVERSITY OF MICHIGAN AT ANN ARBOR
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6297092
关键词：
gene mutation genetic disorder genetic mapping human genetic material tag myoclonus epilepsy

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中文摘要
翻译
该项目旨在确定Unverricht Lundborg（波罗的海）进行性肌阵挛癫痫的基因。 这种基因的鉴定被认为有助于阐明癫痫和肌阵挛的起源，并可能帮助家庭做出生育决定。 自1996年3月发现该基因以来，我们正在寻找患有这种疾病的患者进行突变分析。 然而，这是在GCRC之外的，因为永生化服务已经终止。 我想强调，我们仍在寻找患有这种疾病的患者进行基因研究。
英文摘要
This project was designed to identify the gene for Unverricht Lundborg (Baltic) progressive myoclonus epilepsy. Identification of this gene was thought to shed light on the origin of epilepsies and myoclonus, and to potentially help families in their reproductive decisions. Since the identification of the gene in March 1996, we are seeking patients with this disorder for mutation analysis. This is outside of the GCRC, however, since the immortalization service has been terminated. I would like to stress that we are still seeking patients with this disorder for genetic studies.
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