浅析特发性癫痫综合征的基因病因.docVIP

　　Analysisofthegeneticetiologyofidiopathicepilepsysyndrome 　　（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 specific 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 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 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 chromosomearm 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 epilepsy 　　 3、儿童良性枕叶癫痫 　　 Autosomal dominant genetic variant may be benign centrotempo