家族性癫痫综合征遗传学研究进展
摘要
家族性癫痫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痫综合征。尽管家族性癫痫综合征的表型迥异，但大部分预后良好。目前的家系和基因连锁分析发现，癫痫具有显著的遗传倾向，某些家族性癫痫存在一些遗传缺陷，大部分是由编码离子通道的基因突变所致。家族性癫痫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。本文就家族性癫痫综合征的分子机制进行综述。
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2007年第8期583-586,共4页
Chinese Journal of Pediatrics
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