遗传性癫癎与药物精准治疗的研究进展

Research advances in hereditary epilepsy and precision drug therapy

摘要:

癫癎是一种常见的神经系统疾病，其发病与多种基因突变有关，包括编码电压依赖离子通道基因、编码配体门控通道基因和溶质携带子家族基因等。不同突变基因所致的癫癎对药物的反应可能大不相同，因此根据基因进行诊断和用药指导是癫癎治疗的新思路。随着新一代基因测序技术的应用，越来越多的癫癎相关基因被检测出来，有助于癫癎发病机制的进一步研究，为癫癎的精准治疗提供依据。

Abstract:

Epilepsy is a common nervous system disease. It has been found that the pathogenesis of epilepsy is associated mutations in various genes, including genes encoding voltage-dependent ion channel, genes encoding ligand-gated ion channel, and solute carrier family genes. Different types of epilepsy caused by different mutations have different responses to drugs, and therefore, diagnosis and medication guidance based on genes are new thoughts for developing therapies. With the application of next-generation sequencing technology, more and more genes will be determined, which helps to further study the pathogenic mechanism of mutant genes and provides a basis for precision drug therapy for epilepsy.