Update on susceptibility genes in childhood absence epilepsy

来源 :中国神经科学学会第九届全国学术会议暨第五届会员代表大会 | 被引量 : 0次 | 上传用户:chchchop
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  Genetic factor has long been considered to be related to idiopathic epilepsies and the susceptibility gene for idiopathic generalized epilepsy (IGE) has grown to more than 20 genes now.The vast majority of them are genes encoding channels or the proteins regulating the action of excitatory or inhibitory neurotransmission in the central nervous system (CNS).But, these genes mutations can only explain the minor part for idiopathic epilepsy, and the genes responsible for the most common forms of idiopathic epilepsy still remain mostly unknown.Technological advances recently have resulted in new high-throughput approaches that promise to accelerate the identification of new susceptibility genes and copy number variations (CNVs) for IGE.In this talk, the recent advance of the susceptibility genes study in childhood absence epilepsy (CAE) will be reviewed, especially the two new genes probably associated to Chinese CAE patients we found by combining the whole genome SNP chip association study and direct sequence of the genes.Recent studies have revealed recurrent CNVs related to epilepsy.Our study showed the 15ql 1.2 might be the most common CNV in Chinese CAE patients, it will be introduced.
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