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1、 Analysisofthegeneticetiologyofidiopathicepilepsysyndrome（浅析特发性癫痫综合征的基因病因）（浅析特发性癫痫综合征的基因病因）Epilepsy syndrome (epilepsysyndrome), is composed of a set of signs and symptoms specific epileptic phenomenon, not just seizure type, has a special cause, is composed of specific signs and symptoms of a speci
2、fic epilepsy phenomenon. Idiopathic epilepsy syndrome (age-dependent onset) in the past also called idiopathic epilepsy, line diagnostic technology still can not find a clear cause of epilepsy, this does not mean “no reason“, only not yet find the the pathogen most of single-gene genetic background
3、to determine the causative gene and function is to explore the basis of epilepsy syndrome prevention.癫痫综合征(epilepsysyndrome)是一组症状体征组成的特定癫痫现象，不仅仅是癫痫发作类 型，是具有特殊病因，由特定的症状和体征组成的特定的癫痫现象。特发性癫痫综合征(年 龄依赖性起病)以往也称之为“原发性癫痫” ，系目前诊断技术尚找不到明确病因的癫痫， 这并不意味“无原因” ，仅是尚未找到病原大多数具有单基因遗传背景，确定致病基因及功 能是探索癫痫综合征防治的基础。1, benign
4、 familial neonatal epilepsy (BFNC)1、良性家族性新生儿癫痫(BFNC)BFNC is an autosomal dominant inherited genetic heterogeneity exists 1980s genetic linkage analysis of multiple family gene is located in the 20th chromosome 20q13.3 1990s proved a Mexican - the onset of the pedigree of American origin and 8 chromo
5、somearm 20q chain will named EBN18q is named EBN2 home department study showed that benign familial infantile epilepsy gene is located on the short arm of chromosome No. 19.BFNC 是常染色体显性遗传存在遗传异质性，20 世纪 80 年代基因连锁分析多个家系基 因定位在 20 号染色体 20q13.3，20 世纪 90 年代证明一个墨西哥-美洲起源家系发病与 8 号 染色体长臂连锁将 20q 命名为 EBN18q 命名为
6、EBN2 家系研究表明，良性家族性婴儿癫痫 基因定位于 19 号染色体短臂。2 children with benign centrotemporal epilepsy (BRE)2、儿童良性中央颞区癫痫(BRE)Also known as Central - temporal spikes in benign childhood epilepsy (benignchildhoodepilepsywithcentro-temporalspike, BECTS) case of idiopathic partial epilepsy autosomal dominant.又称具有中央-颞部棘波的
7、良性儿童期癫痫(benignchildhoodepilepsywithcentro- temporalspike，BECTS)属特发性部分性癫痫为常染色体显性遗传。3 children with benign occipital epilepsy3、儿童良性枕叶癫痫Autosomal dominant genetic variant may be benign centrotemporal epilepsy.为常染色体显性遗传可能是良性中央颞区癫痫的变异型。4, childhood absence epilepsy4、儿童失神性癫痫Also known as intensive epileps
8、y, autosomal dominant inheritance, with penetrance incomplete accounting for 5% to 15% of all patients with epilepsy.又称为密集性癫痫，呈常染色体显性遗传，伴外显率不全占全部癫痫患者的 5%15%。5, juvenile absence epilepsy5、青少年失神性癫痫Cause of epilepsy with myoclonic absences may be heterogeneity in some cases may be hereditary, and some
9、may be some symptoms of encephalopathy.与肌阵挛失神癫痫病因可能为异质性某些病例可能为遗传性，有些可能是某种脑病的症状。6 juvenile myoclonic epilepsy (JME)6、青少年肌阵挛癫痫(JME)In recent years, hundreds of JME family investigation found that 80% of the proband compatriots symptoms, family members, in addition to the performance of JME with absenc
10、e seizures and GTCS. 115 the JME pedigree linkage analysis found related genes and 6 short arm of chromosome 6p21.3 tightly linked named EJM1 suggesting that the disease was autosomal recessive tendencies.近年来对上百个 JME 家系调查发现，先证者同胞 80%出现症状，家系成员除表现 JME， 可有失神发作和 GTCS 等。115 个 JME 家系基因连锁分析发现相关基因与 6 号染色体短臂 6p21.3 紧密连锁命名为 EJM1 提示本病呈常染色体隐性遗传倾向。文章来源：http:/
