Epilepsy Research最新文献_第2页

Hospitalisation burden among persons with epilepsy attending an outpatient neuroscience specialist clinic in Singapore 新加坡一家门诊神经科学专科诊所癫痫患者的住院负担

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-16 DOI: 10.1016/j.eplepsyres.2026.107736

Anushika Raheja , Zhibin Tan , Kaavya Narasimhalu

Background

Epilepsy carries significant clinical and socioeconomic burden, largely driven by hospitalisations. Although hospitalisation rates are well described internationally, data from Asia remain limited. We aimed to quantify hospitalisation rates among persons with epilepsy (PwE) attending an outpatient neuroscience specialist clinic in Singapore and assess whether anti-seizure medication (ASM) polytherapy is associated with hospitalisation.

Methods

This exploratory secondary analysis included PwE enrolled in a prospective cohort at a tertiary adult neurology clinic in Singapore from August 2020 to December 2022, and followed up to mid-July 2025. Polytherapy was defined as concurrent use of ≥ 2 ASMs. Incidence rate ratios (IRRs) were calculated and multivariate logistic regression identified factors associated with hospitalisation.

Results

A total of 54 PwE were followed up at the outpatient neuroscience specialist clinic for a median of 3.5 years (range 2.6–4.6). The incidence rates of all-cause hospitalisations and seizure-related hospitalisations was 0.679 hospitalisations per person-year (95 % CI: 0.401 – 1.150) and 0.189 hospitalisations per person-year (95 % CI: 0.071 – 0.501), respectively. PwE on polytherapy had significantly higher incidence rates of all-cause (incidence rate ratio, IRR 3.45, 95 % CI 1.24 – 9.90, p = 0.021) and epilepsy-related hospitalisation (IRR 7.59, 95 % CI 1.76 – 32.7, p = 0.007). On multivariate analysis, PwE on polytherapy had a higher risk of at least one all-cause hospitalisation (OR = 5.952, 95 % CI 1.504 – 23.553, p = 0.011) during the study period.

Conclusion

We report hospitalisation incidence in PwE in Singapore for the first time and describe our finding that ASM polytherapy is associated with all-cause hospitalisations. These findings may help plan further studies on the morbidity of epilepsy and how it may be better addressed.

背景：癫痫在很大程度上是由住院造成的，具有重大的临床和社会经济负担。虽然国际上对住院率的描述很好，但亚洲的数据仍然有限。我们的目的是量化在新加坡一家门诊神经科学专科诊所就诊的癫痫患者（PwE）的住院率，并评估抗癫痫药物（ASM）综合治疗是否与住院有关。方法探索性二次分析纳入了2020年8月至2022年12月在新加坡一家三级成人神经病学诊所进行的前瞻性队列研究，并随访至2025年7月中旬。多重治疗定义为同时使用≥ 2个asm。计算发病率比（IRRs），并进行多变量logistic回归，确定与住院相关的因素。结果54例PwE在神经科学专科门诊接受随访，随访时间中位数为3.5年（范围2.6 ~ 4.6年）。全因住院和癫痫相关住院的发生率分别为每人年0.679次（95 % CI: 0.401 - 1.150）和每人年0.189次（95 % CI: 0.071 - 0.501）。综合治疗组PwE的全因发生率（发病率比，IRR 3.45, 95 % CI 1.24 - 9.90, p = 0.021）和癫痫相关住院率（IRR 7.59, 95 % CI 1.76 - 32.7, p = 0.007）显著高于综合治疗组。多因素分析显示，在研究期间，综合治疗的PwE至少有一次全因住院的风险更高（OR = 5.952,95 % CI 1.504 - 23.553, p = 0.011）。结论我们首次报道了新加坡PwE的住院发生率，并描述了我们的发现，即ASM综合治疗与全因住院有关。这些发现可能有助于规划关于癫痫发病率的进一步研究以及如何更好地解决这一问题。

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引用次数: 0

Seizure recurrences after temporal lobe epilepsy surgery in childhood and adolescence: predictive factors, patterns of recurrence, and long-term outcomes 儿童和青少年颞叶癫痫手术后癫痫复发：预测因素、复发模式和长期结果

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-16 DOI: 10.1016/j.eplepsyres.2026.107732

Ming-Chen Tsai , Keith Starnes , Anthony L. Fine , Katherine C. Nickels , Elaine C. Wirrell , Jamie J. Van Gompel , Kai J. Miller , Lily C. Wong-Kisiel

Background

Temporal lobe epilepsy (TLE) is the leading cause of drug-resistant focal epilepsy. Surgery is effective, yet many patients experience postoperative seizure recurrence.

Objective

To identify predictors of recurrence and characterize recurrence patterns, treatment responses, and long-term outcomes using a 16-year surgical database.

Methods

We retrospectively reviewed children and adolescents (0–19 years) with TLE who underwent resective or destructive temporal lobe surgery at Mayo Clinic, Rochester (2008–2024). All patients underwent scalp EEG phase I monitoring and 1.5 T or 3 T MRI, with invasive monitoring and advanced imaging studies utilized in selected patients when clinically indicated. Patients with prior epilepsy surgery, <1-year follow-up, or without research authorization were excluded. Data were analyzed using descriptive statistics, survival analysis, and Cox proportional hazard models. Seizure recurrence was categorized as acute post-operative seizures (APOS, ≤1 week post-surgery), early recurrence (>1 week–2 years), and late recurrence (>2 years). Delayed seizure freedom was defined as ≥1 year seizure-free before last follow-up after recurrence.

Results

Among 61 patients, 34 (55.7 %) had recurrence over a median follow-up of 49 months. Median time to first recurrence was 48 months. Four patients (6.5 %) had APOS; all developed early recurrence. APOS predicted early recurrence (HR = 6.02, 95 % CI = 1.64–22.04, p = 0.006). Delayed seizure freedom was achieved with medication trials in 19 % (5/26) of early and 75 % (6/8) of late recurrences. At last follow-up, 68 % (42/61) were seizure free: 44 % (27/61) since the first surgery and 24 % (15/61) after recurrence.

Conclusion

Temporal lobe epilepsy surgery provides durable seizure control in two-thirds of pediatric and adolescent patients. APOS may predict early recurrence, which is often less medically responsive and may warrant repeat surgery.

背景：颞叶癫痫（TLE）是耐药局灶性癫痫的主要病因。手术是有效的，但许多患者术后癫痫复发。目的利用16年的外科数据库，确定复发的预测因素，描述复发模式、治疗反应和长期结果。方法回顾性分析2008-2024年在罗切斯特梅奥诊所接受切除或破坏性颞叶手术的儿童和青少年（0-19岁）TLE患者。所有患者均接受头皮脑电图I期监测和1.5 T或3 T MRI，并在临床指征时对选定患者进行侵入性监测和高级成像研究。排除既往有癫痫手术史、随访1年或未经研究授权的患者。数据分析采用描述性统计、生存分析和Cox比例风险模型。癫痫复发分为术后急性发作（APOS，术后≤1周）、早期复发（>；1周- 2年）、晚期复发（>；2年）。延迟发作自由定义为复发后最后一次随访前≥1年无发作。结果61例患者中，34例（55.7% %）在49个月的中位随访期间复发。到首次复发的中位时间为48个月。4例（6.5 %）有APOS；所有患者均出现早期复发。APOS预测早期复发（HR = 6.02, 95 % CI = 1.64-22.04, p = 0.006）。通过药物试验，19 %（5/26）的早期复发和75 %（6/8）的晚期复发患者实现了延迟发作自由。最后一次随访时，68 %（42/61）患者无癫痫发作；首次手术后44 %(27/61)，复发后24 %（15/61）。结论颞叶癫痫手术对三分之二的儿童和青少年患者提供了持久的癫痫控制。APOS可以预测早期复发，这通常在医学上反应较差，可能需要重复手术。

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引用次数: 0

Status epilepticus in scrub typhus versus tuberculous meningitis: A comparative study 恙虫病与结核性脑膜炎的癫痫持续状态：一项比较研究。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-16 DOI: 10.1016/j.eplepsyres.2026.107737

Jayantee Kalita , Firoz M. Nizami , Prakash C. Pandey , Archna Gupta

Background

Scrub typhus (ST) and tuberculous meningitis (TBM) are common infections in tropical regions and can present with various neurological manifestations, including seizures and status epilepticus (SE). This study compared the demographic profiles, clinical features, treatment responses, and outcomes of SE in patients with TBM and ST, using data from our patient cohort and existing literature.

Methods

Patients with TBM or ST presenting with SE were identified from ongoing prospective registries. Detailed demographic, clinical, laboratory, EEG, and MRI findings, along with treatment response and outcomes, were recorded and compared between the groups.

Results

Twenty-eight out of 587 meningitis patient had SE; 17 had TBM and 11 ST. ST patients had lower hemoglobin (p = 0.005), lower platelet counts (p < 0.001), and higher serum creatinine (p = 0.01), bilirubin (p = 0.01), and ALT (p = 0.02) than TBM-SE patients. MRI was abnormal in all TBM-SE patients, but normal in ST-SE. TBM patients had delayed SE (88.2 %), whereas all the ST patients had early onset SE (p < 0.001). TBM-SE required 3 or more antiseizure medications (ASM) and had often refractory (58.8 % vs. 27.3 %) and super-refractory SE (17.6 % vs. 0 %). Mortality was higher in TBM-SE (47.1 %), whereas all ST-SE patients recovered. Only 33 % TBM survivors had good recovery at 6 months. None of the ST patients had recurrence or breakthrough seizure after withdrawal of ASM.

Conclusions

SE in TBM is more refractory and associated with higher mortality and disability than in ST. ASM may be safely withdrawn early in ST-SE, whereas TBM-SE requires prolonged treatment.

背景：恙虫病（ST）和结核性脑膜炎（TBM）是热带地区常见的感染，可表现为多种神经学表现，包括癫痫发作和癫痫持续状态（SE）。本研究使用来自患者队列和现有文献的数据，比较了TBM和ST患者的人口统计学特征、临床特征、治疗反应和SE结局。方法：从正在进行的前瞻性登记中确定伴有SE的TBM或ST患者。详细的人口学、临床、实验室、脑电图和MRI结果，以及治疗反应和结果，被记录下来并在两组之间进行比较。结果：587例脑膜炎患者中有28例出现SE；17例TBM患者和11例ST患者血红蛋白较低（p = 0.005），血小板计数较低（p ）。结论：与ST相比，TBM患者SE难治性更强，死亡率和致残率更高，ASM可在ST-SE早期安全停用，而TBM-SE则需要长期治疗。

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引用次数: 0

Assessing an fMRI-guided titration paradigm for microburst VNS therapy 评估fmri引导的微脉冲VNS治疗的滴定模式。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-15 DOI: 10.1016/j.eplepsyres.2026.107734

Kristl Vonck , Ryan Verner , Giovanni Ranuzzi , Roshani Patel , William O. Tatum , Lesley Kaye , Cornelia Drees , Muhammad Zafar , Rebecca O’Dwyer , Jason Begnaud , Jerzy P. Szaflarski , on behalf of the Microburst Study Group

Rationale

VNS is an efficacious therapy for people with epilepsy (PwE), but personalized implementation of VNS dosing and titration could be improved by measuring therapeutic engagement of cortical and subcortical physiology.

Methods

People with Drug-Resistant Epilepsy (DRE) were enrolled into a feasibility study using investigational microburst VNS (NCT03446664). An investigational VNS system with conditional approval for stimulation in the magnetic environment was titrated using an fMRI-guided titration approach to determine VNS therapy settings for each individual participant over 6 months. Stimulation parameter combinations that evoked the highest thalamic BOLD response were chosen in an individual participant as the preferred VNS therapy setting.

Results

Thirty-two participants were implanted and 31 participants attended the 6-month study visit and at least one prior fMRI study visit. In all participants, significant VNS-evoked thalamic BOLD responses were found. Participants who experienced significant thalamic BOLD signal among multiple stimulation parameter combinations over multiple visits were most likely to respond to µVNS. Participants responded to µVNS with a median reduction in seizure frequency of 42.6 % at 6 months. There were no MRI-related safety issues associated with active VNS during scanning.

Conclusion

Titration of VNS using an fMRI-guided approach is feasible and safe in PwE (when using appropriate investigational devices), but our specific biomarker, used in this specific study design, was ultimately too variable to be used for patient-specific titration. An increase in thalamic BOLD signal that occurred across multiple stimulation parameter combinations and multiple visits with microburst settings was associated with seizure response that could be visualized early in the titration process.

理由：VNS是一种有效的治疗癫痫（PwE）的方法，但VNS的剂量和滴定的个性化实施可以通过测量皮质和皮质下生理的治疗参与来改进。方法：将耐药癫痫（Drug-Resistant Epilepsy， DRE）患者纳入一项使用研究性微脉冲VNS （NCT03446664）的可行性研究。一个有条件批准在磁环境中刺激的试验性VNS系统使用fmri引导滴定方法进行滴定，以确定每个个体参与者在6个月内的VNS治疗设置。在个体参与者中，选择诱发最高丘脑BOLD反应的刺激参数组合作为首选的VNS治疗设置。结果：32名参与者被植入，31名参与者参加了为期6个月的研究访问和至少一次先前的fMRI研究访问。在所有参与者中，发现了显著的vns诱发的丘脑BOLD反应。在多次访问的多个刺激参数组合中经历显著丘脑BOLD信号的参与者最有可能对μ VNS做出反应。6个月时，受试者对μ VNS有反应，癫痫发作频率中位数降低42.6 %。在扫描过程中，没有与主动VNS相关的核磁共振相关的安全问题。结论：在PwE中，使用fmri引导的方法对VNS进行滴定是可行且安全的（当使用适当的研究设备时），但我们在该特定研究设计中使用的特异性生物标志物最终太过多变，无法用于患者特异性滴定。在多种刺激参数组合和多次使用微脉冲设置时，丘脑BOLD信号的增加与癫痫发作反应有关，这可以在滴定过程的早期观察到。

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引用次数: 0

A systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events 高纯度大麻二酚在发育性和癫痫性脑病以及复杂治疗抵抗性癫痫中的系统评价：癫痫发作频率和不良事件的变化。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-12 DOI: 10.1016/j.eplepsyres.2026.107731

Antonietta Coppola , Lisa Moore-Ramdin , Marco Navetta , Debopam Samanta

Objective

The efficacy and safety of a highly purified plant-derived cannabidiol (CBD) oral solution (Epidiolex® [US]/Epidyolex® [EU], EPX) have been established for the treatment of seizures in patients with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. These conditions involve diverse etiologies, suggesting EPX may have broad utility across different seizure types. This systematic literature review (SLR) evaluated studies reporting CBD effectiveness and tolerability in patients with other developmental and epileptic encephalopathies (DEEs) and complex treatment-resistant epilepsies (TREs).

Methods

In accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, an SLR was conducted in March 2024 using Embase, PubMed, and Cochrane libraries for publications on complex TREs, CBD, seizure outcomes, and adverse events (AEs). Results were narratively summarized according to epilepsy type.

Results

Seizure frequency-related changes were reported in 57 studies including 37 DEEs/TREs comprising 971 patients; most (n=33)(n = 33) were case reports/small case series. Most common diagnoses were focal/multifocal-onset epilepsy (n=401)(n = 401) and Angelman syndrome (n=188).(n = 188). Overall, 47 studies reported seizure frequency reduction in ≥1≥ 1 patient; definitions/thresholds included seizure reduction (n = 18 studies; 20–100 % of patients) and mean/median percent seizure reduction (n = 8 studies; 12–99 % reduction). Twenty-two studies reported ≥ 1 patient was seizure-free for ≥ 48 days.

AEs experienced while taking CBD were generally mild or moderate and most commonly gastrointestinal, including diarrhea (17–50 %), decreased appetite (7–45 %), and vomiting (5–86 %).

Conclusion

CBD may reduce seizure frequency in patients with a range of DEEs and complex TREs. These findings support future studies in these populations.

目的：研究一种高纯度植物源性大麻二酚（CBD）口服溶液（Epidiolex®[US]/Epidyolex®[EU]， EPX）治疗lenox - gastaut综合征、Dravet综合征或结节性硬化症患者癫痫发作的疗效和安全性。这些疾病涉及多种病因，表明EPX可能在不同的癫痫发作类型中具有广泛的效用。本系统文献综述（SLR）评估了报告CBD在其他发展性和癫痫性脑病（dee）和复杂治疗抵抗性癫痫（TREs）患者中的有效性和耐受性的研究。方法：根据系统评价和荟萃分析指南的首选报告项目，于2024年3月使用Embase、PubMed和Cochrane文库对复杂TREs、CBD、癫痫发作结局和不良事件（ae）的出版物进行SLR。结果按癫痫类型进行叙述总结。结果：57项研究报告了癫痫发作频率相关的变化，包括37例dee /TREs，共971例患者；大多数（n=33）（n = 33）为病例报告/小病例系列。最常见的诊断是局灶性/多灶性癫痫（n=401）（ = 401）和Angelman综合征（n=188）（ = 188）。总体而言，47项研究报告癫痫发作频率降低≥1≥ 1例患者；定义/阈值包括癫痫发作减少（n = 18项研究；20-100 %的患者）和癫痫发作减少的平均/中位数百分比（n = 8项研究；12-99 %减少）。22项研究报告≥ 1例患者≥ 48天无癫痫发作。服用CBD时发生的不良反应一般为轻度或中度，最常见的是胃肠道，包括腹泻（17- 50% %）、食欲下降（7- 45% %）和呕吐（5- 86% %）。结论：CBD可降低一系列ed和复杂TREs患者的癫痫发作频率。这些发现支持了未来对这些人群的研究。

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引用次数: 0

Sexual and developmental variability of spike-wave discharges in the taiep rat: A model of H-ABC leukodystrophy 大鼠脑尖波放电的性别和发育变异性：H-ABC脑白质营养不良模型

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-12 DOI: 10.1016/j.eplepsyres.2026.107733

Carmen Cortes , Juan M. Ibarra-Hernández , Gilles van Luijtelaar , Jose R. Eguibar

Taiep rat has a leukodystrophy caused by a tubulinopathy affecting the β-tubulin 4 A (TUBB4A) gene characterized by hypomyelination and progressive demyelination of the central nervous system. In magnetic resonance imaging taiep rats showed hypomyelination and atrophy of the putamen and cerebellum that resemble human leukodystrophy named hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). In addition, taiep rat has spike-wave discharges (SWDs) in the electroencephalogram (EEG) associated with behavioral interruption of the ongoing activity. This study aims to analyze the characteristics and circadian distribution of SWDs in both sexes throughout the first year of life. We chronically implanted male and female taiep rats aged 3, 6, 9, and 12 months with electrodes in the cerebral cortex, neck muscles, and right eye orbit for 24-hour video-EEG recordings. Offline, we analyzed the number, mean and total duration of SWDs, the latency of the first SWD, and the spectral content using Fast Fourier Transform. A cosinor analysis was applied to 24-hour data to describe circadian distributions of SWD number and mean duration. In both sexes, the number, mean, and total duration of SWDs increased with age; onset occurred earlier in males at 3 months with respect to females that have SWDs at 6 months. The acrophase of the mean duration rhythm was delayed in females. These findings indicate a sexual dimorphism in the SWDs expression and timing during the circadian cycle. In both sexes, the interspike frequency of SWDs was 6.31 showing no change with age, suggesting similar thalamo-cortical circuit properties across all groups. In conclusion, these results clearly demonstrate that hypomyelination and demyelination affect the expression and circadian dynamics of SWDs in both sexes throughout development in taiep rats. In conclusion, taiep rats had a leukodystrophy associated to spike-wave discharges and behavioral arrest that are absence-like epilepsy.

台北大鼠是一种由影响β-微管蛋白4 a （TUBB4A）基因的小管病变引起的脑白质营养不良，其特征是中枢神经系统的髓鞘退化和进行性脱髓鞘。在磁共振成像中，大鼠表现为壳核和小脑的髓鞘退化和萎缩，类似于人类脑白质营养不良，称为髓鞘退化伴基底节区和小脑萎缩（H-ABC）。此外，睡眠大鼠在脑电图（EEG）中存在与正在进行的活动的行为中断相关的spike-wave放电（SWDs）。本研究旨在分析出生后第一年两性的SWDs特征和昼夜节律分布。我们在3、6、9和12个月大的雄性和雌性大鼠的大脑皮层、颈部肌肉和右眼眼眶长期植入电极，进行24小时的视频脑电图记录。在离线状态下，我们使用快速傅里叶变换分析了SWD的数量、平均和总持续时间、第一个SWD的延迟以及频谱内容。对24小时数据进行余弦分析，以描述SWD数量和平均持续时间的昼夜分布。在两性中，随年龄增长而增加的swd次数、平均和总持续时间均有所增加；男性在3个月时发病比女性在6个月时发病早。雌性平均持续节律的顶相延迟。这些发现表明，在昼夜周期中，SWDs的表达和时间存在性别二态性。在两性中，SWDs的峰间频率为6.31，没有随年龄变化，表明所有组的丘脑-皮层回路特性相似。综上所述，这些结果清楚地表明，在睡眠大鼠的整个发育过程中，脱髓鞘减少和脱髓鞘影响了两性SWDs的表达和昼夜动力学。综上所述，睡眠大鼠的脑白质萎缩与尖波放电和行为停止有关，这是一种缺席样癫痫。

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引用次数: 0

Antiseizure medication effects on sleep architecture in epilepsy: Glymphatic insights and implications for cognitive decline 抗癫痫药物对癫痫患者睡眠结构的影响：类淋巴的见解和认知能力下降的影响

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2026-01-01 DOI: 10.1016/j.eplepsyres.2025.107730

Justyna Swierz , Michael Doherty , Sung Ji , Jeffrey Iliff , Yeilim Cho

Disruptions in sleep architecture may contribute to cognitive decline in people with epilepsy (PWE), potentially through impaired glymphatic clearance. In this narrative review, we explore how antiseizure medications (ASMs) influence key sleep stages, particularly slow-wave sleep (SWS) and rapid eye movement (REM) sleep, and consider how these changes may intersect with glymphatic function and cognitive outcomes. SWS supports glymphatic clearance of interstitial waste, including neurotoxic solutes such as amyloid-β and tau. Some ASMs appear to enhance SWS, while others suppress it, suggesting the possibility of differential long-term cognitive effects. We propose that sleep disruption may represent an important but underappreciated factor linking epilepsy and neurocognitive decline. While sleep impairment in epilepsy is often attributed to seizures or interictal activity, ASM-induced alterations in sleep architecture may also play a role. However, this relationship remains largely theoretical and requires further experimental study. We also review the use of diffusion tensor image analysis along the perivascular space (DTI-ALPS) as an emerging imaging method to approximate glymphatic activity. Although DTI-ALPS provides a non-invasive proxy for perivascular water diffusivity, it does not directly measure glymphatic clearance and may be affected by factors such as partial volume effects. Its role in epilepsy research remains exploratory and should be interpreted cautiously. To date, no study has directly examined the combined effects of ASMs, sleep structure, and glymphatic function in a single cohort. We outline opportunities for future research integrating neuroimaging, sleep assessment, and cognitive testing to better understand how sleep-targeted strategies might preserve brain health in epilepsy.

睡眠结构的中断可能导致癫痫患者（PWE）的认知能力下降，可能是由于淋巴清除受损。在这篇叙述性综述中，我们探讨了抗癫痫药物（asm）如何影响关键的睡眠阶段，特别是慢波睡眠（SWS）和快速眼动（REM）睡眠，并考虑这些变化如何与淋巴功能和认知结果交叉。SWS支持淋巴清除间质废物，包括淀粉样蛋白-β和tau等神经毒性溶质。一些asm似乎增强了SWS，而另一些则抑制了它，这表明可能存在不同的长期认知影响。我们认为，睡眠中断可能是癫痫和神经认知能力下降之间的一个重要但未被重视的因素。虽然癫痫的睡眠障碍通常归因于癫痫发作或间歇活动，但asm引起的睡眠结构改变也可能起作用。然而，这种关系在很大程度上仍停留在理论阶段，需要进一步的实验研究。我们还回顾了沿血管周围空间扩散张量图像分析（DTI-ALPS）作为一种新兴的成像方法来近似淋巴活性的使用。尽管DTI-ALPS提供了一种非侵入性血管周围水扩散率的替代指标，但它并不能直接测量淋巴清除率，而且可能受到部分容积效应等因素的影响。它在癫痫研究中的作用仍是探索性的，应谨慎解释。到目前为止，还没有研究直接在单个队列中检查asm、睡眠结构和淋巴功能的综合影响。我们概述了未来整合神经成像、睡眠评估和认知测试的研究机会，以更好地了解睡眠靶向策略如何保护癫痫患者的大脑健康。

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引用次数: 0

Evaluation of epilepsy in 8p-related disorders 癫痫在8p相关疾病中的评价。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2025-12-31 DOI: 10.1016/j.eplepsyres.2025.107720

Megan Abbott , Katie Angione , Megan Stringfellow , Kristina Malik , Margarita Saenz , Andrea Miele , Kaiti Syverson , Bina Maniar , Jacob Borello , Lauren Chaby , Scott Demarest

8p-related disorders are genetic conditions associated with chromosomal rearrangements on the short arm of chromosome 8. This study aimed to characterize the epilepsy phenotype in patients with 8p-related disorders seen at Children’s Hospital Colorado (CHCO) and/or recorded in the Project 8p Foundation Natural History Study. Key objectives included determining epilepsy prevalence, typical age of seizure onset, efficacy of treatment, and EEG features. A retrospective chart review was conducted for patients seen in the CHCO Neurogenetics Multidisciplinary Clinic and Project 8p Database. Clinical data including demographics, genotype, epilepsy history, and EEG findings were collected. The cohort included 162 unique patients with 8p-related disorders (42 at CHCO, 120 from the Project 8p Natural History Study). Overall, 32 % of patients (53/162) had experienced at least one lifetime seizure: 37 % (30/81) of those with Invdupdel(8p), 35 % (16/46) with 8p deletions, and 15 % (4/26) with 8p duplications. Average age of seizure onset was 3.4 years, with a range from neonatal onset to 16.9 years of age. Among CHCO patients with epilepsy (14/42, 33 %), only one had intractable epilepsy, while 9 became seizure-free, including 5 off medications. EEG abnormalities were present in 18/42, 43 % of the CHCO patients. This study provides the first detailed analysis of epilepsy in a large cohort of patients with 8p-related disorders. While epilepsy is relatively common, it is typically well controlled. Genotype-specific patterns emerged, with Invdupdel(8p) associated with the highest epilepsy prevalence and 8p duplication with the lowest. Further research in larger cohorts is warranted to validate these findings.

8p相关疾病是与8号染色体短臂上的染色体重排相关的遗传病。本研究旨在描述科罗拉多州儿童医院（CHCO）和/或8p基金会自然历史研究项目中记录的8p相关疾病患者的癫痫表型。主要目的包括确定癫痫患病率、癫痫发作的典型年龄、治疗效果和脑电图特征。对CHCO神经遗传学多学科诊所和8p项目数据库的患者进行回顾性图表回顾。临床资料包括人口统计学、基因型、癫痫史和脑电图。该队列包括162例独特的8p相关疾病患者（42例来自CHCO， 120例来自8p自然历史研究项目）。总体而言，32% %的患者（53/162）至少经历过一次终身癫痫发作：Invdupdel（8p）患者为37% % (30/81)，8p缺失患者为35% % (16/46)，8p重复患者为15% %（4/26）。癫痫发作的平均年龄为3.4岁，范围从新生儿发病到16.9岁。CHCO合并癫痫患者（14/ 42,33 %）中，仅有1例发生难治性癫痫，9例无癫痫发作，其中5例停药。18/ 42,43 %的CHCO患者出现脑电图异常。这项研究首次对8p相关疾病患者的癫痫进行了详细分析。虽然癫痫相对常见，但通常控制得很好。出现了基因型特异性模式，Invdupdel（8p）与最高的癫痫患病率相关，8p重复与最低的癫痫患病率相关。有必要在更大的队列中进行进一步的研究来验证这些发现。

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引用次数: 0

Primary prophylaxis of seizures in post-hemorrhagic stroke rehabilitation patients 出血性卒中后康复患者癫痫发作的初级预防。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2025-12-23 DOI: 10.1016/j.eplepsyres.2025.107719

Valeria Pingue , Diego Franciotta

Background and purpose

Prophylactic use of antiseizure medications (ASMs) for optimal management of post-hemorragic stroke (HS) seizures remains controversial. We retrospectively evaluated the influence of seizures on functional outcome, and, in a perspective of prescriptive appropriateness, the association between primary and secondary ASM prophylaxis and seizure occurrence in a large cohort of post-HS rehabilitation patients.

Methods

This retrospective observational cohort study included 399 adult patients consecutively admitted to our unit, after acute HS, for neurorehabilitation, between January 1, 2014 and December 31, 2023. The main variables were primary or secondary use of ASMs, and occurrence of acute symptomatic (ASyS), or unprovoked seizures (US). Independent predictors of rehabilitation outcome, measured with the Functional Independence Measure (FIM) scale, were analysed with multiple linear regression.

Results

Based on the Glasgow Coma Scale scores on admission, HS was classified as mild in 32.3 % of cases, moderate in 42.6 %, and severe in 25.1 %. Seizures occurred in 92/399 patients (23.1 %). US were associated with worse FIM scores on admission (p = 0.042), and on discharge (p = 0.020). Eleven/98 patients on primary ASM prophylaxis developed US vs 2/209 without ASM (p = 0.0002). The patients on primary, or on secondary prophylaxis presented the worst FIM scores at baseline and on discharge (p < 0.0001 for both). Occurrence of US (p = 0.001), primary (p = 0.047), and secondary prophylaxis (p = 0.047) predicted poor functional outcome independently from age and HS severity. Second generation ASMs were associated with poor outcome more frequently than first generation ASMs (p = 0.013).

Conclusions

This study confirms the association between the severity of brain damage and seizures, and supports the notion that long-term prophylaxis with ASMs might not prevent the onset of US and epilepsy after HS. Our findings reinforce the recommendations by the European Stroke Organization and the American Heart Association, and expand the rationale of not using ASMs as primary prophylaxis in post-HS rehabilitation patients.

背景和目的：预防性使用抗癫痫药物（asm）来优化出血性卒中（HS）发作的管理仍然存在争议。我们回顾性地评估了癫痫发作对功能结果的影响，并从处方适当性的角度，在一大批hs后康复患者中，评估了初级和二级ASM预防与癫痫发作之间的关系。方法：本回顾性观察队列研究纳入了2014年1月1日至2023年12月31日期间，399例急性HS后连续入住我科进行神经康复治疗的成年患者。主要变量是原发或继发使用抗痉挛药物，急性症状（ASyS）或非诱发性癫痫发作（US）的发生。采用功能独立量表（FIM）测量康复结果的独立预测因子，采用多元线性回归分析。结果：根据入院时的格拉斯哥昏迷量表评分，HS分为轻度（32.3% %）、中度（42.6% %）和重度（25.1% %）。399例患者中有92例发生癫痫发作（23.1% %）。US与入院时（p = 0.042）和出院时（p = 0.020）较差的FIM评分相关。接受初级ASM预防的患者中有11 /98人发生US，而未接受初级ASM预防的患者中有2/209人发生US （p = 0.0002）。初级预防或二级预防的患者在基线和出院时的FIM评分最差（p ）。结论：该研究证实了脑损伤严重程度与癫痫发作之间的关联，并支持长期预防asm可能无法预防HS后US和癫痫发作的观点。我们的研究结果加强了欧洲卒中组织和美国心脏协会的建议，并扩大了不使用asm作为hs后康复患者初级预防的理由。

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引用次数: 0

SLC13A5 citrate transporter disorder epilepsy phenotype SLC13A5柠檬酸转运蛋白紊乱癫痫表型。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY

Epilepsy Research

Pub Date : 2025-12-12 DOI: 10.1016/j.eplepsyres.2025.107718

Can Ozlu , Emily M. Spelbrink , Tanya L. Brown , Kimberly L. Nye , Rayan M. Solidum , Sydney Cooper , Carrie R. Best , Dallas Armstrong , Judy Liu , Kimberly Goodspeed , Brenda E. Porter

The SLC13A5 gene encodes a sodium citrate co-transporter, with loss of function variants causing autosomal recessive developmental and epileptic encephalopathy 25, DEE25. DEE25 is an ultra-rare genetic disorder, known to cause neonatal onset epilepsy as well as later neurocognitive and motor impairments. Here, we characterize the epilepsy phenotype from 30 children and adults enrolled in a prospective natural history study, with frequent visits over 2 years. Our findings reveal that the highest seizure burden and number of ER visits occurred during the first decade of life, with decreased seizure burden and ER visits after 10 years of age. However, older patients remained on an average of 3 antiseizure medications, and some had breakthrough seizures, suggesting ongoing epilepsy risk. Many antiseizure medications were used across patients. Multiple antiseizure medications were felt to be of benefit by caregivers, with valproic acid having the highest utilization with 22 patients and 80 % of caregivers reporting it to be helpful or very helpful. Higher doses of valproic acid correlated with caregiver reported benefit. All DEE25 pediatric epilepsy quality of life module scores were low, consistent with poor quality of life, and stable across the two years, with cognitive impairment, executive functioning being lower than mood and behavior. Most EEGs were abnormal, but less than a third had frequent or abundant interictal epileptiform activity, suggesting that interictal epileptiform activity was not a primary driver of neurocognitive dysfunction.

SLC13A5基因编码柠檬酸钠共转运体，具有导致常染色体隐性遗传性发育性和癫痫性脑病25的功能缺失变异。DEE25是一种极其罕见的遗传性疾病，已知会导致新生儿癫痫发作以及后来的神经认知和运动障碍。在这里，我们描述了30名儿童和成人的癫痫表型，这些儿童和成人参加了一项前瞻性自然史研究，频繁访问超过2年。我们的研究结果显示，最高的癫痫发作负担和就诊次数发生在生命的前十年，10岁后癫痫发作负担和就诊次数减少。然而，老年患者仍然平均服用3种抗癫痫药物，一些患者出现突破性癫痫发作，表明存在持续的癫痫风险。许多抗癫痫药物在患者中使用。多种抗癫痫药物被护理人员认为是有益的，丙戊酸的使用率最高，有22名患者，80%的护理人员报告它有帮助或非常有帮助。高剂量丙戊酸与护理人员报告的获益相关。所有DEE25儿童癫痫患者的生活质量模块评分均较低，与生活质量较差一致，并且在两年内保持稳定，认知障碍、执行功能低于情绪和行为。大多数脑电图异常，但只有不到三分之一的脑电图具有频繁或丰富的癫痫样间期活动，这表明癫痫样间期活动不是神经认知功能障碍的主要驱动因素。

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引用次数: 0