癫痫是大脑神经元过度同步放电而致的一组临床综合征,其病因复杂。研究显示,约40%的癫痫患者与遗传有关,特别是在儿童癫痫患者中[1]。遗传学及分子生物学研究显示遗传性原发性癫痫与神经元细胞膜上的离子通道编码基因突变导致特定的跨膜蛋白表达异常有关。现仅就遗传性癫痫的分 Epilepsy is a group of clinical syndromes caused by excessive synchronous discharge of neurons in the brain. The etiology is complicated. Studies show that about 40% of patients with epilepsy are genetically related, especially in children with epilepsy [1]. Genetics and molecular biology studies have shown that inherited primary epilepsy is associated with aberrant expression of specific transmembrane proteins resulting from mutations in ion channel-encoding genes in neuronal cell membranes. Now only on the genetic epilepsy points