RESOLVING HETEROGENEITY IN EPILEPSY WITH GENETIC MARKERS

用遗传标记解决癫痫的异质性

基本信息

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

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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:
The Role of Genome-Coded ME2 in Epilepsy
基因组编码的 ME2 在癫痫中的作用
  • 批准号:
    7937921
  • 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:
Core--RESEARCH DEVELOPMENT
核心--研究开发
  • 批准号:
    6948006
  • 财政年份:
    2005
  • 资助金额:
    $ 38.91万
  • 项目类别:
Genetics of Rolandic Epilepsy
罗兰迪克癫痫的遗传学
  • 批准号:
    7364144
  • 财政年份:
    2005
  • 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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