KCNT1基因相关癫痫研究进展

doi:10.13481/j.1671-587x.20200134

摘要/Abstract

摘要： 离子通道在调节中枢神经系统兴奋性方面起重要作用。离子通道基因突变与很多原发性癫痫的发病有密切关联，最常见的是婴儿恶性迁移部分性发作癫痫和常染色体显性遗传夜间额叶癫痫，KCNTl基因编码含有1 235种氨基酸残基的钠离子激活的钾离子通道，是目前已知最大的钾离子通道亚基，该突变可使患者电流幅度增强3~22倍，从而导致癫痫发作。KCNT1基因突变在临床患者中的检出率逐年增高，其有许多不同于经典局灶性癫痫的特征，该突变的患者多为常染色体显性遗传，局灶性发作，多数患者临床症状较重，起病年龄小且伴有精神行为异常、心律失常及先天性发育异常。KCNT1基因突变所致癫痫表型多样，既可以导致皮质发育不良，又可以导致脑结构正常的癫痫综合征，但抗癫痫药物疗效相对较差，且钾离子（K⁺）通道阻滞剂对其效果不佳。现对KCNT1突变所致癫痫的致病机制、临床特征、遗传特征和治疗相关文献进行归纳整理，旨在加强临床对该类疾病的认识，尽早建议患者行基因检测，以防漏诊误诊。

中图分类号:

R742.1

张欣, 李光健, 林卫红. KCNT1基因相关癫痫研究进展[J]. 吉林大学学报(医学版), 2020, 46(01): 194-199.

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