基于癫痫致病性基因的精准治疗研究进展
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Research progress on precision therapy based on epilepsy pathogenic gene
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    摘要:

    近年来,随着基因检测技术的发展,大量与癫痫相关的遗传因素逐渐被揭示,针对这些癫 痫致病基因的相关临床表型和病理生理学机制的研究使得癫痫精准治疗成为可能。在临床实践中,尽 早识别出癫痫致病基因对于制订有效的治疗方案及选择合适的抗癫痫药物至关重要。本文概述了当前 已知对临床治疗有指导意义的癫痫致病基因,以期帮助临床医师选择合适的癫痫治疗方案。

    Abstract:

    In recent years, a large number of epilepsy pathogenic genes have been gradually revealed with the advancement of genetic testing technology. Studies on the clinical phenotypes and pathophysiologic mechanisms associated with epilepsy pathogenic genes have made precision epilepsy treatment possible. In actual clinical practice, early identification of epilepsy pathogenic genes is crucial for effective treatment and the selection of appropriate antiepileptic drugs. This article provides an overview of a variety of currently known epilepsy pathogenic genes that have guided clinical therapy, with a view to helping clinicians select appropriate epilepsy treatment programs.

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孙哲,高乐虹,管洪旭,常燕燕,唐琴,杨莹雪.基于癫痫致病性基因的精准治疗研究进展[J].神经疾病与精神卫生,2025,25(4):251-257
DOI :10.3969/j. issn.1009-6574.2025.04.004.

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  • 在线发布日期: 2025-04-25