家族性皮质肌阵挛性震颤伴癫痫（FCTME）是一种成年起病的以皮质震颤、肌阵挛和癫痫为核心症状的高外显率常染色体显性遗传病,无神经系统退行性变,抗癫痫药可有效控制症状.电生理检查可见巨大皮质诱发电位、增强C反射、抽动锁定逆平均...家族性皮质肌阵挛性震颤伴癫痫（FCTME）是一种成年起病的以皮质震颤、肌阵挛和癫痫为核心症状的高外显率常染色体显性遗传病,无神经系统退行性变,抗癫痫药可有效控制症状.电生理检查可见巨大皮质诱发电位、增强C反射、抽动锁定逆平均技术（JLA）可见震颤相关的皮质电活动.本病在世界范围内均有报道,但尚未被国际抗癫痫联盟列入癫痫综合征分类.日本最先报道本病,命名为FEME（familial essential myoclonus and epilepsy）[1],荷兰学者回顾报道了该病家系的临床和电生理特点,统一命名为FCMTE[2],但其发病机制和致病基因仍在探索当中.我们搜集了Pubmed和万方数据库的相关文献,对本病的研究进展进行总结.展开更多
Objective: To examine the genetic relationships among epilepsies with different seizure types-myoclonic, absence, and generalized tonic-clonic-within the idiopathic generalized epilepsies (IGEs). Background: Careful p...Objective: To examine the genetic relationships among epilepsies with different seizure types-myoclonic, absence, and generalized tonic-clonic-within the idiopathic generalized epilepsies (IGEs). Background: Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups. Methods: Using the approach that found evidence of distinct genetic effects on myoclonic vs absence seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of seizure or IGE syndrome, as appropriate for the analysis performed. Results: The proportion of families concordant for myoclonic vs absence seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance. Conclusions: These results provide additional evidence for distinct genetic effects on myoclonic vs absence seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic seizures within the idiopathic generalized epilepsies.展开更多
文摘家族性皮质肌阵挛性震颤伴癫痫（FCTME）是一种成年起病的以皮质震颤、肌阵挛和癫痫为核心症状的高外显率常染色体显性遗传病,无神经系统退行性变,抗癫痫药可有效控制症状.电生理检查可见巨大皮质诱发电位、增强C反射、抽动锁定逆平均技术（JLA）可见震颤相关的皮质电活动.本病在世界范围内均有报道,但尚未被国际抗癫痫联盟列入癫痫综合征分类.日本最先报道本病,命名为FEME（familial essential myoclonus and epilepsy）[1],荷兰学者回顾报道了该病家系的临床和电生理特点,统一命名为FCMTE[2],但其发病机制和致病基因仍在探索当中.我们搜集了Pubmed和万方数据库的相关文献,对本病的研究进展进行总结.
文摘Objective: To examine the genetic relationships among epilepsies with different seizure types-myoclonic, absence, and generalized tonic-clonic-within the idiopathic generalized epilepsies (IGEs). Background: Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups. Methods: Using the approach that found evidence of distinct genetic effects on myoclonic vs absence seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of seizure or IGE syndrome, as appropriate for the analysis performed. Results: The proportion of families concordant for myoclonic vs absence seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance. Conclusions: These results provide additional evidence for distinct genetic effects on myoclonic vs absence seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic seizures within the idiopathic generalized epilepsies.
