特发性全面性癫痫（IGE）特发性癫痫是一类具有高度临床表现异质性和遗传异质性的神经系统疾病,其致病机理尚不清楚。本课题组已收集一对IGE同卵双胞胎，一为IGE患者，另一为正常对照，临床表现典型，IGE诊断明确。我们拟采用全基因组外显子测序技术与芯片全基因组扫描相结合寻找IGE 的致病基因。通过全基因组外显子测序与芯片全基因组扫描，定位IGE疾病基因位点；筛选候选基因，对IGE双胞胎进行突变分析，确定IGE致病基因。并根据致病基因的结构和功能特点，进一步进行功能分析，初步探讨基因突变致IGE的机理，为揭示特发性癫痫的发病机制及开发新的抗癫痫药物提供理论依据。

Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities. Patients also often have a family history of epilepsy and seem to have a genetically predisposed risk of seizures. IGE tends to manifest itself between early childhood and adolescence although it can be eventually diagnosed later. The genetic cause of some IGE types is known, though inheritance does not always follow a simple monogenicmechanism. Monozygotic (MZ) or “identical” twins have been widely studied to dissect the relative contributions of genetics and environment in human diseases.We plan to use second-generation methods for targeted sequencing of all protein-coding regions (‘exomes’), to find a gene of monozygotic twins discordant for IGE. We demonstrate that targeted capture and massively parallel sequencing represents a cost-effective, reproducible and robust strategy for the sensitive and specific identification of variants causing proteincoding changes in individual human genomes. Also, to detect genomic alteration, the copy number analysis of the IGE case was performed using Affymetrix Genome-Wide HumanSNP Array 6．0 and Affymetrix Genotyping Console 3.0 software was used for quality control. It is generally believed that most affected individuals were suffering from an unknown genetic defect resulting in manifesting the clinical features. So the discovery of biological basis of IGE will contribute to the scientific understanding of this syndrome, as well as idiopathic epilepsy. It is expectable that the convincing genetic findings of IGE were extraordinarily rare in all available publications. Fortunately, the collection of academic valued pedigrees, and application of exome sequencing and the emergence of modern high-resolution microarray-based technologies combined with genomewide linkage analysis skills provided the researchers a great opportunity to localize the genetic loci of IGE and to investigate its pathogenic mutations in detail.