RESOLVING HETEROGENEITY IN EPILEPSY WITH GENETIC MARKERS
用遗传标记解决癫痫的异质性
基本信息
- 批准号:2266669
- 负责人:
- 金额:$ 38.91万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1990
- 资助国家:美国
- 起止时间:1990-01-01 至 1994-12-31
- 项目状态:已结题
- 来源:
- 关键词:autosomal recessive trait case history chromosome disorders disease /disorder classification electroencephalography gene expression genetic markers histocompatibility typing human genetic material tag human population genetics human subject linkage mapping major histocompatibility complex myoclonus epilepsy nervous system disorder epidemiology restriction fragment length polymorphism
项目摘要
Juvenile myoclonic epilepsy (JME) or the syndrome of Janz, is a clinically
well-defined benign form of epilepsy that starts in adolescence. It is
characterized by small myoclonic jerks, clonic-tonic-clonic-seizures, and
a characteristic EEG feature -4-6 Hz multispike-wave complexes (4-6 Hz
mS&W). JME occurs more frequently in the relatives of JME patients than
in the general population, as do other forms of epilepsy. In addition,
the 4-6 Hz mS&W and other EEG abnormalities occur in family members
without epilepsy. JME is a common form of epilepsy, thought to represent
about 100% of all epilepsies.
We recently reported the finding of strong evidence for linkage of JME
traits seen in relatives to the HLA and BF loci on chromosome 6. The lod
score is over 3.0 no matter what mode of inheritance is assumed when we
classify the abnormal EEGs seen in unaffected family members as
"affected". The lod score also remains over 3.0 no matter how family
members with non-JME epilepsy are classified. Under the most conservative
classification (non-JME epilepsy considered "unaffected") the lod score is
over 4.0 under recessive inheritance. A preliminary segregation analysis
showed a two locus model for JME could be rejected.
The current study is designed to confirm and further investigate the
genetics of both JME and the relationship of JME to other generalized
epilepsy. JME probands will be identified in clinics in the New York
area. We will investigate the inheritance of JME and the EEG traits by
analysis of the linkage marker data as well as by segregation analysis.
We will gather data from 125 JME families over five years. In addition to
the JmE families, we will collect data on 30 families identified through a
patient with juvenile absence and 30 through a patient with tonic-clonic
seizures. These data will allow us to test for heterogeneity between JME
and other forms of epilepsy and to test whether a subgroup of those non-
JME families map to chromosome 6. We will use HLA typing and restriction
fragment length polymorphisms (RFLP) for mapping, with RFLP probes derived
initially from the around the HLA region. We will look for genetic
linkage markers closer to the locus for JME and the EEG traits.
The identification of a genetic marker for JME has given a new focus to
basic studies on the classification and mechanisms of the epilepsies. The
identification of a gene involved in the expression of a common form of
epilepsy means that we can now use that gene locus as a probe to identify
other epilepsies whose expression may be influenced by the same gene
locus. This means that we now have a way of classifying the generalized
epilepsies based on etiology rather than non-specific clinical symptoms.
Also, the identification of a gene involved in abnormal EEGs means that,
once the gene product is known, a basic aspect of the working of the brain
can be investigated.
青少年肌阵挛性癫痫(JME)或称Janz综合征,是一种临床少见的疾病
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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DAVID A. GREENBERG其他文献
DAVID A. GREENBERG的其他文献
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{{ truncateString('DAVID A. GREENBERG', 18)}}的其他基金
Mechanisms of Genetic Seizure Susceptibility in Juvenile Myoclonic Epilepsy
青少年肌阵挛性癫痫遗传性癫痫易感性机制
- 批准号:
8109724 - 财政年份:2009
- 资助金额:
$ 38.91万 - 项目类别:
Mechanisms of Genetic Seizure Susceptibility in Juvenile Myoclonic Epilepsy
青少年肌阵挛性癫痫遗传性癫痫易感性机制
- 批准号:
8286827 - 财政年份:2009
- 资助金额:
$ 38.91万 - 项目类别:
Mechanisms of Genetic Seizure Susceptibility in Juvenile Myoclonic Epilepsy
青少年肌阵挛性癫痫遗传性癫痫易感性机制
- 批准号:
7886503 - 财政年份:2009
- 资助金额:
$ 38.91万 - 项目类别:
Mechanisms of Genetic Seizure Susceptibility in Juvenile Myoclonic Epilepsy
青少年肌阵挛性癫痫遗传性癫痫易感性机制
- 批准号:
7737552 - 财政年份:2009
- 资助金额:
$ 38.91万 - 项目类别:
Mechanisms of Genetic Seizure Susceptibility in Juvenile Myoclonic Epilepsy
青少年肌阵挛性癫痫遗传性癫痫易感性机制
- 批准号:
8099781 - 财政年份:2009
- 资助金额:
$ 38.91万 - 项目类别:
RESOLVING HETEROGENEITY IN EPILEPSY USING GENETIC MARKERS
使用遗传标记解决癫痫的异质性
- 批准号:
6246217 - 财政年份:1997
- 资助金额:
$ 38.91万 - 项目类别:
A MULTICENTER STUDY OF IDIOPATHIC GENERALIZED EPILEPSY
特发性全身性癫痫的多中心研究
- 批准号:
2266672 - 财政年份:1995
- 资助金额:
$ 38.91万 - 项目类别:
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