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Factors influencing pediatric epilepsy outcomes: Predictive variables and adherence to clinical practice guidelines 影响儿童癫痫结局的因素:预测变量和对临床实践指南的遵守
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-16 DOI: 10.1016/j.eplepsyres.2026.107738
Vaibhav R. Suryawanshi , Kavita Srivastava , Anshu Priya , Bhakti Sarangi , Asavari Raut

Background

Pediatric epilepsy constitutes significant challenges for long-term management in resource-limited settings. This study determined factors influencing epilepsy outcomes in children (predictive variables) and assessed adherence to clinical practice guidelines (CPG) and its effect on clinical outcomes, addressing the evidence gap in Indian settings.

Methods

We enrolled prospectively followed 170 children (<18 years) diagnosed with epilepsy, treated and monitored at a tertiary-care university hospital from ‘January 2021 to December 2024’. Adherence to clinical practice guidelines (CPG) was assessed using ‘Indian Academy of Pediatrics’ and ‘American Epilepsy Society’ standards. Clinical outcomes were studied and classified as ‘favorable (seizure freedom)’ and ‘unfavorable (seizure recurrence at 6 months of ASM initiation AND/OR active epilepsy ≥1 year of ASM initiation AND/OR time to seizure freedom exceeding 15 months after ASM initiation)’. Factors predictive of unfavorable epilepsy outcomes were analyzed using multivariate regression, and the event probabilities were estimated using Kaplan–Meier analysis.

Results

Of 170 children, 117 (68.8 %) diagnosed with new‑onset epilepsy (NOE) and 53 (31.2 %) with drug‑resistant epilepsy (DRE). The median (IQR) age was 4.6 (3.1 – 11.5) years. Male preponderance was observed [93 (54.7 %)]. Overall adherence to CPG was 70 %, with deviations noted in 28.2 % of NOE cases and in 34 % of DRE cases. Seizure recurrence at 6 months of ASM initiation [82.4 % versus 64.7 %, P = 0.034] and active epilepsy for ≥ 1 year of ASM initiation [60.8 % versus 32.8 %, P = 0.001] was higher in CPG non-adherent group. Seizure freedom was observed in a total of 100 (58.8 %) children. Patients from CPG non-adherent group took longer (>15 months) to gain seizure freedom (P < 0.042). Of 11 studied factors predictive of unfavorable epilepsy outcomes, 2 factors in NOE and 5 factors in DRE achieved statistical significance. Kaplan-Meier analysis demonstrated increased hazards of unfavorable epilepsy outcomes in patients with DRE compared to NOE, (HR 2.3, 95 % CI 1.2–4.7, P = 0.0147).

Conclusion

Adherence to CPG was associated with favorable epilepsy outcomes, while non‑adherence predicted higher risk of seizure recurrence and prolonged active epilepsy. DRE cases demonstrated significantly greater risk of unfavorable epilepsy outcomes compared to NOE, underscoring the importance of guideline‑based management in optimizing pediatric epilepsy care.
背景:在资源有限的环境下,儿童癫痫对长期管理构成重大挑战。本研究确定了影响儿童癫痫结局的因素(预测变量),并评估了临床实践指南(CPG)的遵守情况及其对临床结局的影响,解决了印度环境中的证据差距。方法从2021年1月至2024年12月,我们前瞻性随访了170名被诊断为癫痫的儿童(18岁),并在一家三级大学医院接受治疗和监测。使用“印度儿科学会”和“美国癫痫学会”的标准对临床实践指南(CPG)的依从性进行了评估。研究临床结果并将其分为“有利(癫痫发作自由)”和“不利(ASM开始6个月时癫痫发作复发和/或活动性癫痫≥1年ASM开始和/或发作自由时间超过15个月)”。采用多元回归分析预测癫痫不良结局的因素,并采用Kaplan-Meier分析估计事件概率。结果170例患儿中,117例(68.8% %)诊断为新发癫痫(NOE), 53例(31.2% %)诊断为耐药癫痫(DRE)。中位(IQR)年龄为4.6(3.1 - 11.5)岁。男性优势[93例(54.7% %)]。CPG的总体依从性为70 %,NOE病例的偏差为28.2% %,DRE病例的偏差为34% %。癫痫复发在6个月的ASM起始[82.4  % %和64.7,P = 0.034]和活动性癫痫≥1年 ASM的起始(60.8 %和32.8 % P = 0.001]在CPG non-adherent组高。100例(58.8 %)患儿癫痫发作自由。CPG非依从组患者获得癫痫发作自由所需时间较长(>;15个月)(P <; 0.042)。在研究的11个预测癫痫不良结局的因素中,NOE的2个因素和DRE的5个因素具有统计学意义。Kaplan-Meier分析显示,与NOE患者相比,DRE患者不良癫痫结局的风险增加(HR 2.3, 95 % CI 1.2-4.7, P = 0.0147)。结论坚持CPG与癫痫预后良好相关,而不坚持CPG则预示着癫痫复发和活动性癫痫延长的风险增加。与NOE相比,DRE病例表现出更大的不良癫痫结局风险,强调了基于指南的管理在优化儿科癫痫护理中的重要性。
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引用次数: 0
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 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
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 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 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 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 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 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
Epilepsy and stroke: A mendelian Randomization study 癫痫和中风:一项孟德尔随机研究。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-03 DOI: 10.1016/j.eplepsyres.2025.107714
Siyuan Chen , Madison Crago , Alain Lekoubou

Background

Observational studies have established a relationship between stroke and epilepsy. While most studies have reported an increased risk of epilepsy following a stroke, fewer have concluded that a diagnosis of epilepsy increases the risk of future strokes. Precisely describing the causal relationship between epilepsy and stroke has clinical and public health implications.

Methods

We performed a two-sample Mendelian Randomization (MR) to analyze the relationship between epilepsy and stroke. We identified genetic instruments from the Stroke Multiancestry Genome-Wide Association Study [GCST005838 (67,162 cases and 454,450 controls)] and the International League Against Epilepsy Consortium on Complex Epilepsies [Generalized epilepsy: GCST007343 (n_case=3769, n_control=29677), Focal epilepsy: GCST007352 (n_case=9671, n_control=29677)]. We used a significance threshold of p-value <5 × 10(−5) for genetic instrument identification. We included the following epilepsy phenotypes: generalized epilepsy (GE), focal epilepsy (FE), childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), generalized epilepsy with tonic-clonic seizures (GTCS), focal epilepsy with hippocampal sclerosis (focal HS), and focal lesion-negative epilepsy. Linkage disequilibrium (LD) reference panel of 1000 Genome Project pruning with Pearson correlation r2 < 0.2 was applied to ensure that the analysis is restricted to independent variants. We used Steiger filtering for reverse causality and Z-scores for generalized epilepsy and focal epilepsy. We employed the following methods for causal effect estimation: inverse-variance weighted (IVW), MR-Egger, MR-RAPS, and MRPRESSO.

Results

For the association between GE and stroke (GE> stroke), stroke and GE (stroke > GE), FE and stroke (FE>stroke), and stroke and FE (stroke>FE), the number of SNPs was respectively 253, 213, 187, and 210. GE was associated with an increased risk of stroke [IVW, 95 % confidence interval: 0.058 (0.028–0.088)], and stroke was also associated with an increased risk of GE [IVW: 0.059 (0.026–0.092)]. FE was associated with an increased risk of stroke [IVW: 0.066 (0.029–0.102)] and stroke was associated with an increased risk of FE [IVW: 0.037(0.005–0.068)]. The analysis by epilepsy subtypes revealed an increased risk only among patients with stroke and for the following epilepsy subtypes: JAE, CAE, Focal HS, and Focal lesion negative epilepsy.

Conclusion

Our findings support a bidirectional relationship between stroke and epilepsy. Studies on post-stroke epilepsy should account for this bidirectional relationship.
背景:观察性研究已经确立了中风和癫痫之间的关系。虽然大多数研究报告了中风后癫痫的风险增加,但很少有研究得出癫痫诊断会增加未来中风风险的结论。准确描述癫痫和中风之间的因果关系具有临床和公共卫生意义。方法:采用双样本孟德尔随机化(MR)分析癫痫与脑卒中的关系。我们从卒中多祖先全基因组关联研究[GCST005838(67,162例和454,450例对照)]和国际抗癫痫联盟复杂癫痫联盟[全局性癫痫:GCST007343 (n_case=3769, n_control=29677),局灶性癫痫:GCST007352 (n_case=9671, n_control=29677)]中鉴定了遗传仪器。我们使用p值(-5)的显著性阈值进行遗传仪器鉴定。我们纳入了以下癫痫表型:全身性癫痫(GE)、局灶性癫痫(FE)、儿童癫痫缺失(CAE)、青少年癫痫缺失(JAE)、青少年肌阵挛性癫痫(JME)、全身性癫痫伴强直阵挛发作(GTCS)、局灶性癫痫伴海马硬化(局灶性HS)和局灶性病变阴性癫痫。结果:GE与卒中(GE>卒中)、卒中与GE(卒中> GE)、FE与卒中(FE>卒中)、卒中与FE(卒中>FE)相关的snp数分别为253个、213个、187个、210个。GE与卒中风险增加相关[IVW, 95%可信区间:0.058(0.028-0.088)],卒中也与GE风险增加相关[IVW: 0.059(0.026-0.092)]。FE与卒中风险增加相关[IVW: 0.066(0.029-0.102)],卒中与FE风险增加相关[IVW: 0.037(0.005-0.068)]。对癫痫亚型的分析显示,只有中风患者和以下癫痫亚型患者的风险增加:JAE、CAE、局灶性HS和局灶性病变阴性癫痫。结论:我们的研究结果支持中风和癫痫之间的双向关系。脑卒中后癫痫的研究应考虑到这种双向关系。
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引用次数: 0
Elevated thalamic blood flow in self-limited epilepsy with centrotemporal spikes 伴有中央颞叶尖峰的自限性癫痫患者丘脑血流量升高
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-02 DOI: 10.1016/j.eplepsyres.2025.107716
Niki Iasinovschi , Elizabeth Tong , Lucia Bicknell , Fiona Mitchell Baumer
Children with self-limited epilepsy syndrome with centrotemporal spikes (SeLECTS) exhibit altered thalamocortical connectivity, but whether thalamic function itself is abnormal remains unclear. We investigated whether thalamic blood flow, a marker of metabolism, differs between children with SeLECTS and controls, and examined the effects of spike distribution and antiseizure medications (ASMs) on thalamic perfusion. In this retrospective cohort study, we identified consecutive children with SeLECTS who underwent magnetic resonance imaging (MRI) for epilepsy evaluation (n = 44) and age- and sex-matched children who underwent MRI for non-epilepsy indications (n = 35). We quantified thalamic blood flow via manual segmentation of cerebral blood flow (CBF) sequences obtained from arterial spin labeling MRI. Clinical variables including sedation use during MRI, daily ASM use, and spike distribution (unilateral or bilateral) were extracted from medical records. Children with SeLECTS demonstrated elevated thalamic blood flow compared to controls, with the most pronounced differences in specific subgroups. Children with unilateral spikes showed the highest CBF, particularly in the thalamus contralateral to spike activity. ASM use significantly modulated thalamic blood flow: children taking oxcarbazepine showed the highest CBF, while those on levetiracetam had CBF similar to controls. Unmedicated children showed intermediate elevations. These findings demonstrate that elevated thalamic blood flow may be intrinsic to SeLECTS pathophysiology, with different ASMs producing distinct neurobiological effects. The differential medication effects may relate to their clinical efficacy and provide neurobiological rationale for treatment selection in this common childhood epilepsy syndrome.
伴有中央颞叶尖峰(SeLECTS)的自限性癫痫综合征患儿表现出丘脑皮质连通性改变,但丘脑功能本身是否异常尚不清楚。我们研究了丘脑血流量(代谢标志物)在select患儿和对照组之间是否存在差异,并研究了尖峰分布和抗癫痫药物(asm)对丘脑灌注的影响。在这项回顾性队列研究中,我们确定了连续接受磁共振成像(MRI)进行癫痫评估的select儿童(n = 44)和年龄和性别匹配的接受MRI检查非癫痫适应症的儿童(n = 35)。我们通过手工分割从动脉自旋标记MRI获得的脑血流量(CBF)序列来量化丘脑血流量。从医疗记录中提取临床变量,包括MRI期间镇静使用、每日ASM使用和尖峰分布(单侧或双侧)。与对照组相比,患有select的儿童表现出丘脑血流量升高,在特定亚组中差异最明显。单侧尖峰的儿童表现出最高的CBF,特别是在对侧的丘脑尖峰活动。ASM使用显著调节的丘脑血流:服用奥卡西平的儿童CBF最高,而服用左乙拉西坦的儿童CBF与对照组相似。未服药的儿童表现为中度升高。这些发现表明丘脑血流量升高可能是select病理生理的内在特征,不同的asm产生不同的神经生物学效应。不同的药物效果可能与临床疗效有关,并为这种常见的儿童癫痫综合征的治疗选择提供神经生物学依据。
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引用次数: 0
Evaluating the impact of cenobamate in the management in patients with drug resistant focal epilepsy – A retrospective real world observational study of patients attending NHS Greater Glasgow and Clyde 评价cenobamate对耐药局灶性癫痫患者管理的影响——一项对大格拉斯哥和克莱德NHS患者的回顾性观察性研究
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-02 DOI: 10.1016/j.eplepsyres.2025.107717
M. Taha , L. Stephen , S. Nichol , S. Yule , S. MacBride-Stewart , AD Marshall , CA Heath

Introduction

Cenobamate (CNB) is the latest ASM to be licensed in the UK as an adjunctive treatment for adults with focal epilepsy. Early clinical trials have been encouraging with up to 50.4 % of patients showing a 50 % improvement at 12 weeks and 71 % were still receiving Cenobamate at 48 months. Regulatory studies of this nature provide useful information, but real-world data is often more informative.
Since Scottish Medicine Consortium approval in 2022, we have been collecting audit data on outcomes from patients receiving cenobamate.

Methods

Adult patients were included if they received at least one prescription for cenobamate between March 2022 and April 2024 and had at least 12 months of data available before their first prescription.
Patients dispensed cenobamate were identified from the national Prescribing Information System (PIS) to ensure complete patient capture.
A manual review of electronic patient records was undertaken. The primary outcome of interest was change in seizure frequency on a stable dose. Secondary outcomes included epilepsy-related admissions, changes in ASMs and healthcare resource utilisation costs.

Results

145 patients received at least 1 CNB prescription, 144 of whom had reached an endpoint. 94/144 (65.2 %) had a favourable response. The median length of treatment was 655 days (range 180–922 days), with a median dose of 150 mg/d (range 25–400 mg/d). The median number of previous ASM was 5 (1−13).
48/145 (33.1 %) discontinued CNB – 35 due to adverse effects, 6 due to lack of efficacy. 2 patients died.
Early analysis suggest a reduction in Health care resource use although long term follow up is required.

Conclusion

These results offer insights for clinicians regarding the real-world effectiveness, retention rates, and healthcare cost implications of CNB therapy in a cohort consisting largely of patients with severe drug resistant epilepsy. Further studies are ongoing to assess the efficacy of CNB when used earlier and also to provide a comprehensive assessment of health care resource use in this real world settings.
cenobamate (CNB)是最新在英国获得许可的ASM,作为成人局灶性癫痫的辅助治疗。早期临床试验结果令人鼓舞,在12周时,50.4% %的患者表现出50% %的改善,而在48个月时,仍有71% %的患者在服用Cenobamate。这种性质的监管研究提供了有用的信息,但真实世界的数据往往更有用。自苏格兰医学联盟于2022年批准以来,我们一直在收集接受cenobamate的患者的结果审计数据。方法纳入在2022年3月至2024年4月期间至少服用过一次cenobamate处方的成年患者,并且在首次处方前至少有12个月的数据。从国家处方信息系统(PIS)中识别分配了cenobamate的患者,以确保完整的患者捕获。对电子病历进行了人工审查。研究的主要结果是在稳定剂量下癫痫发作频率的变化。次要结局包括癫痫相关入院、asm变化和医疗资源利用成本。结果145例患者接受了至少1个CNB处方,其中144例达到终点。94/144(65.2 %)表示赞成。中位治疗时间为655天(180-922天),中位剂量为150 mg/d(25-400 mg/d)。既往ASM中位数为5(1 ~ 13)。48/145(33.1% %)因不良反应停用CNB - 35, 6因缺乏疗效。2例死亡。早期分析表明,尽管需要长期随访,但卫生保健资源的使用有所减少。这些结果为临床医生提供了关于CNB治疗在现实世界中的有效性、保留率和医疗成本影响的见解,这些队列主要由严重耐药癫痫患者组成。目前正在进行进一步的研究,以评估早期使用CNB的效果,并对现实世界环境中卫生保健资源的使用情况进行全面评估。
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引用次数: 0
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Epilepsy Research
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