发育性癫痫性脑病(developmental and epilepsy encephalopathies, DEEs)是指起病于发育期,以精神运动发育迟缓或倒退为特征的一组癫痫性脑病综合征。DEEs病因及致病机制复杂,遗传因素占据主导地位。当前,病因驱动治疗已成为制定DEEs管理方案的核心,个别综合征亦有特定的药物适应症。本文综述了目前DEEs的遗传学病因及新型抗癫痫药物在DEEs中的应用前景。旨在优化治疗方案,强调个体化精准诊疗,为提高对这一罕见癫痫疾病的理解和管理提供理论支持。Developmental and epileptic encephalopathy (DEEs) refers to a group of epileptic encephalopathy syndromes that begin in the developmental period and are characterized by development delay or regression. The etiology and pathogenesis of DEEs are complex, with genetic factors dominating. Currently, etiology-driven treatment has become the core of DEEs management, and certain syndromes also have specific drug indications. This article reviews the current genetic etiology of DEEs and the prospects for applying novel antiepileptic drugs in DEEs. It aims to optimize treatment plans, emphasize individualized and precise diagnosis and treatment, and provide theoretical support for improving understanding and management of this rare epilepsy disease.
近年来,人工智能(artificial intelligence,AI)技术飞速发展,特别是在深度学习和自然语言处理(natural language processing,NLP)领域,正在推动医疗模式的深刻变革[1]。AI通过复杂数据的自动特征提取和模式识别,基于统计数据的精准预测,已广泛应用于疾病诊断、治疗方案优化和患者管理等方面,显著提升了医疗效率和质量。医学与AI的深度融合,为实现个性化医疗、减少医疗资源分配不均和推动科研创新提供了强大动力。耳科疾病种类繁多,涵盖听力障碍、平衡功能异常和形态畸形等,诊断往往依赖高精度的影像分析和经验丰富的专业医生。然而,医疗资源短缺和基层医疗水平不足限制了疾病的早期发现与治疗。AI通过精确的影像分析、智能信号处理和辅助诊断,有望弥补这些不足,提升诊断效率和准确率,尤其在中耳炎、耳郭畸形和眩晕疾病的识别与干预方面展现出巨大潜力[2-4]。
