RECENT ADVANCEMENTS IN THE DIAGNOSIS AND TREATMENT OF EPILEPSY

Epilepsy represents one of the most prevalent neurological disorders globally, affecting over fifty million individuals with significant morbidity, mortality, and socioeconomic burden. The past three years have witnessed transformative advances across the epilepsy care continuum, fundamentally reshaping diagnostic paradigms and therapeutic possibilities. This comprehensive scientific review synthesizes breakthrough developments in epilepsy diagnosis and treatment from 2024 through early 2026. In diagnostic innovation, the validation of blood-based DNA methylation biomarkers capable of distinguishing focal cortical dysplasia subtypes IIa and IIb with exceptional accuracy represents a seminal advance, offering noninvasive presurgical diagnosis for previously MRI-negative cases. Concurrently, neuroimaging has evolved from lesion-centric localization toward sophisticated network-based connectomic approaches integrating ultra-high-field magnetic resonance, functional connectivity analyses, and quantitative positron emission tomography. Therapeutic advancements span multiple domains: precision sodium channel modulators including relutrigine and vormatrigine have demonstrated unprecedented efficacy in developmental and epileptic encephalopathies and focal epilepsy respectively, with regulatory filings underway; antisense oligonucleotide therapy targeting SCN2A gene expression offers the first disease-modifying strategy for genetic epilepsies; interleukin blockade with anakinra and tocilizumab has achieved consensus recommendation status for new onset refractory status epilepticus and febrile infection-related epilepsy syndrome; and electromagnetic neuromodulation technologies encompassing responsive neurostimulation, deep brain stimulation, transcranial magnetic stimulation, transcranial direct current stimulation, and emerging transcranial ultrasound stimulation provide expanding options for pharmacoresistant populations. Computational neuroscience contributions include neural mass modeling demonstrating that sleep electroencephalography can reveal synaptic hyperexcitability parameters predictive of imminent seizure risk. This review concludes that epilepsy care is undergoing fundamental paradigm shifts from symptomatic seizure control toward etiologic, precision therapeutics and from invasive intracranial evaluation toward minimally invasive and noninvasive diagnostic methodologies.癫痫（Epilepsy）是全球范围内最为高发的神经系统疾病之一，影响超5000万人群，带来显著的患病负担、致死风险与社会经济成本。过去三年间，癫痫诊疗全流程取得了变革性进展，从根本上重塑了诊断范式与治疗路径。本全面科学综述系统梳理了2024年至2026年初癫痫诊断与治疗领域的突破性进展。 在诊断创新方向，可高精度区分局灶性皮层发育不良IIa型与IIb型的血液DNA甲基化生物标志物（blood-based DNA methylation biomarkers）已完成验证，这一里程碑式突破可为此前MRI阴性的病例提供无创术前诊断方案。与此同时，神经影像学已从以病灶为中心的定位模式，演进至融合超高场磁共振（ultra-high-field magnetic resonance）、功能连接分析（functional connectivity analyses）与定量正电子发射断层扫描（quantitative positron emission tomography）的先进网络连接组学方法。 治疗进展覆盖多个领域：包括瑞卢替津（relutrigine）与沃马替津（vormatrigine）在内的精准型钠离子通道调节剂，分别在发育性癫痫性脑病与局灶性癫痫中展现出前所未有的临床疗效，目前已进入监管申报阶段；靶向SCN2A基因表达的反义寡核苷酸疗法（antisense oligonucleotide therapy），为遗传性癫痫提供了首款疾病修正治疗策略；阿那白滞素（anakinra）与托珠单抗（tocilizumab）介导的白细胞介素阻断疗法，已获得新发难治性癫痫持续状态与发热感染相关癫痫综合征的共识推荐；涵盖反应性神经刺激（responsive neurostimulation）、深部脑刺激（deep brain stimulation）、经颅磁刺激（transcranial magnetic stimulation）、经颅直流电刺激（transcranial direct current stimulation）及新兴经颅超声刺激（transcranial ultrasound stimulation）的电磁神经调控技术，为药物难治性癫痫患者群体提供了日益丰富的治疗选择。 计算神经科学领域的重要贡献包括：神经群建模（neural mass modeling）证实，睡眠脑电图（sleep electroencephalography）可揭示突触过度兴奋参数，该参数可用于预测即将发生的癫痫发作风险。本综述总结指出，癫痫诊疗正经历根本性范式转变：从症状性癫痫控制转向病因导向的精准治疗，从有创颅内评估转向微创与无创诊断方法。