家族性癫癎综合征通常指具有明确的家族遗传倾向但无神经变性改变的症状,如智力发育迟缓和小脑共济失调等表现的特发性癫癎综合征。尽管家族性癫癎综合征的表型迥异,但大部分预后良好。目前的家系和基因连锁分析发现,癫癎具有显著的遗传倾向,某些家族性癫癎存在一些遗传缺陷,大部分是由编码离子通道的基因突变所致。家族性癫癎综合征与离子通道之间的分子机制正在成为人们关注的焦点。本文就家族性癫癎综合征的分子机制进行综述。一、良性家族性新生儿惊厥 Familial epilepsy syndromes generally refer to idiopathic epilepsy syndromes characterized by definite familial predisposition but no signs of neurodegenerative disorders such as mental retardation and cerebellar ataxia. Despite the different phenotypes of familial epilepsy, most have a good prognosis. The current pedigree and genetic linkage analysis found that epilepsy has a significant genetic predisposition, some familial epilepsy with some genetic defects, mostly caused by genetic mutations encoding ion channels. The molecular mechanism between familial epilepsy syndrome and ion channels is becoming the focus of attention. This article reviews the molecular mechanisms of familial epilepsy syndrome. First, benign familial neonatal convulsions