Seizure-European Journal of Epilepsy最新文献_第5页

Absence seizures with ictal yawning in Rubinstein-Taybi syndrome 鲁宾斯坦-泰比综合征伴发作性哈欠的失神发作

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-02-01 Epub Date: 2025-12-21 DOI: 10.1016/j.seizure.2025.12.011

Sara Bellido-Cuéllar, Rosa Ana Saiz-Díaz, Jesús González de la Aleja

引用次数: 0

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-02-01 Epub Date: 2026-01-07 DOI: 10.1016/j.seizure.2026.01.005

Thuppanattumadam Ananthasubramanian Sangeeth , LG Viswanathan , Hansashree Padmanabha , Akshaya Janardhanan , Ajay Asranna , Gautham Arunachal , Raghavendra Kenchaiah , Ravindranadh CM , Jitender Saini , Sanjib Sinha

Background

Progressive myoclonic epilepsies (PMEs) are severe epileptic encephalopathies characterized by drug-resistant seizures, myoclonus, neuroregression, and ataxia. Biallelic variants in KCTD7 cause a rare autosomal recessive PME (MIM #611726).

Methods

We retrospectively analysed six unrelated children with genetically confirmed KCTD7-related PME diagnosed at a quaternary referral centre in South India (2018–2025). Clinical features, EEG, SSEP, MRI, and genetic results were reviewed. Variant pathogenicity was assessed per ACMG guidelines.

Results

Six patients (3 male, 3 female; median onset 11 months, range 6–18 months) were included. Initial symptoms were seizures (four patients) or developmental delay (two patients), with regression in five patients. Fever-triggered worsening was noted in all patients. Ataxia was a common symptom (five patients). EEG showed generalized or multifocal epileptiform discharges, often posterior-predominant. MRI demonstrated diffuse cerebral/cerebellar atrophy and characteristic thalamic T2 hypo-intensity in three patients. Genetic analysis identified seven variants: five missense and two frame-shift, including three novel variants (p.Arg279Cys, p.Asp115Profs88, and p.Cys71fs*130). The recurrent p.Ala178Val variant was observed in two patients. One patient had epilepsia partialis continua responsive to corticosteroids.

Conclusions

This series expands the phenotypic and genotypic spectrum of KCTD7-related PME in India. Key clinical clues include developmental regression, seizures, cortical myoclonus, fever-provoked worsening, posterior-dominant epileptiform discharges, and early ataxia. The study highlights the importance of comprehensive genetic testing for accurate diagnosis, prognostication, and counselling in early-onset epileptic encephalopathies.

背景：进行性肌阵挛性癫痫（PMEs）是一种以耐药癫痫发作、肌阵挛、神经退化和共济失调为特征的严重癫痫性脑病。KCTD7的双等位基因变异导致罕见的常染色体隐性PME （mim# 611726）。方法：我们回顾性分析了2018-2025年在南印度一家四级转诊中心诊断的6名无亲缘关系的kctd7相关PME患儿。本文回顾了临床特征、脑电图、SSEP、MRI和遗传结果。根据ACMG指南评估变异致病性。结果：纳入6例患者（男3例，女3例；中位发病11个月，范围6-18个月）。最初症状为癫痫发作（4例）或发育迟缓（2例），其中5例出现发育迟缓。所有患者均出现发热引发的病情恶化。共济失调是常见症状（5例）。脑电图显示全身性或多灶性癫痫样放电，常后侧为主。MRI显示3例患者弥漫性脑/小脑萎缩和特征性丘脑T2低强度。遗传分析发现7个变异：5个错义和2个帧移位，包括3个新变异（p.Arg279Cys、p.Asp115Profs88和p.Cys71fs*130）。2例患者出现p.a ala178val变异体复发。1例患者患有持续部分性癫痫，对皮质类固醇有反应。结论：该系列扩大了印度kctd7相关PME的表型和基因型谱。关键的临床线索包括发育倒退、癫痫发作、皮质肌阵挛、发热引起的恶化、后显性癫痫样放电和早期共济失调。该研究强调了全面的基因检测对早发性癫痫性脑病的准确诊断、预测和咨询的重要性。

{"title":"KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature","authors":"Thuppanattumadam Ananthasubramanian Sangeeth , LG Viswanathan , Hansashree Padmanabha , Akshaya Janardhanan , Ajay Asranna , Gautham Arunachal , Raghavendra Kenchaiah , Ravindranadh CM , Jitender Saini , Sanjib Sinha","doi":"10.1016/j.seizure.2026.01.005","DOIUrl":"10.1016/j.seizure.2026.01.005","url":null,"abstract":"<div><h3>Background</h3><div>Progressive myoclonic epilepsies (PMEs) are severe epileptic encephalopathies characterized by drug-resistant seizures, myoclonus, neuroregression, and ataxia. Biallelic variants in <em>KCTD7</em> cause a rare autosomal recessive PME (MIM #611726).</div></div><div><h3>Methods</h3><div>We retrospectively analysed six unrelated children with genetically confirmed <em>KCTD7</em>-related PME diagnosed at a quaternary referral centre in South India (2018–2025). Clinical features, EEG, SSEP, MRI, and genetic results were reviewed. Variant pathogenicity was assessed per ACMG guidelines.</div></div><div><h3>Results</h3><div>Six patients (3 male, 3 female; median onset 11 months, range 6–18 months) were included. Initial symptoms were seizures (four patients) or developmental delay (two patients), with regression in five patients. Fever-triggered worsening was noted in all patients. Ataxia was a common symptom (five patients). EEG showed generalized or multifocal epileptiform discharges, often posterior-predominant. MRI demonstrated diffuse cerebral/cerebellar atrophy and characteristic thalamic T2 hypo-intensity in three patients. Genetic analysis identified seven variants: five missense and two frame-shift, including three novel variants (p.Arg279Cys, p.Asp115Profs88, and p.Cys71fs*130). The recurrent p.Ala178Val variant was observed in two patients. One patient had epilepsia partialis continua responsive to corticosteroids.</div></div><div><h3>Conclusions</h3><div>This series expands the phenotypic and genotypic spectrum of <em>KCTD7</em>-related PME in India. Key clinical clues include developmental regression, seizures, cortical myoclonus, fever-provoked worsening, posterior-dominant epileptiform discharges, and early ataxia. The study highlights the importance of comprehensive genetic testing for accurate diagnosis, prognostication, and counselling in early-onset epileptic encephalopathies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 28-33"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146020411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploration of the mechanism of action of cenobamate cenobamate的作用机制探讨。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-07 DOI: 10.1016/j.seizure.2025.11.010

Raman Sankar , Louis Ferrari , Marc Kamin

Antiseizure medications have varied effects on neurotransmitter receptors and ion channels in the brain, yet how these mechanisms of action (MoAs) translate to clinical efficacy is not well understood. Cenobamate, a tetrazole alkyl carbamate antiseizure medication (ASM), has a dual MoA: preferential inhibition of the persistent sodium current (I_NaP) while sparing the transient sodium current (I_NaT), combined with extrasynaptic tonic inhibition mediated by positive allosteric modulation of gamma-aminobutyric acid type A (GABA_A) receptors. In preclinical studies, cenobamate demonstrated broad-spectrum activity across various animal models of focal and generalized seizures. In clinical trials, cenobamate demonstrated rates of seizure freedom not observed with other voltage-gated sodium channel blockers (SCBs), whose main MoA involves modulating I_NaT or GABA_A. In addition, real-world evidence suggests cenobamate may have efficacy in adult Dravet syndrome, a loss-of-function sodium channelopathy typically aggravated by SCBs. Cenobamate’s selectivity for I_NaP occurs at therapeutic concentrations, a characteristic seemingly unique among ASMs. Moreover, cenobamate preferentially modulates tonic (extrasynaptic) currents over phasic (synaptic) GABA_A currents. These combined mechanistic effects may represent an emerging class of ASMs and could explain cenobamate’s broad-spectrum effect in animal seizure models and its efficacy for focal seizures in humans. In this review, we examine how cenobamate interacts with sodium currents and GABA receptor physiology and review cenobamate’s efficacy profile in humans. Finally, we will postulate how specific aspects of cenobamate’s dual MoA may contribute to its efficacy in comparison to other ASMs with similar MoAs.

抗癫痫药物对大脑中的神经递质受体和离子通道有不同的影响，但这些作用机制（MoAs）如何转化为临床疗效尚不清楚。Cenobamate是一种四唑烷基氨基甲酸酯类抗癫痫药物（ASM），具有双重MoA：优先抑制持续钠电流（INaP），同时保留瞬态钠电流（INaT），结合γ -氨基丁酸a型（GABAA）受体的正变构调节介导的突触外紧张性抑制。在临床前研究中，cenobamate在各种动物模型局灶性和全局性癫痫发作中表现出广谱活性。在临床试验中，cenobamate表现出的癫痫发作自由率与其他电压门控钠通道阻滞剂（scb）不同，后者的主要MoA涉及调节INaT或GABAA。此外，实际证据表明，cenobamate可能对成人Dravet综合征有效，这是一种功能丧失的钠通道病变，通常由scb加重。在治疗浓度下，Cenobamate对INaP的选择性发生，这似乎是asm中独有的特征。此外，相较于相位（突触）GABAA电流，左脑突起优先调节强直性（突触外）电流。这些综合的机制作用可能代表了一种新兴的asm，并可以解释cenobamate在动物癫痫模型中的广谱效应及其对人类局灶性癫痫发作的疗效。在这篇综述中，我们研究了cenobamate如何与钠电流和GABA受体生理相互作用，并回顾了cenobamate在人体中的疗效。最后，我们将假设与其他具有类似MoA的asm相比，cenobamate的双MoA的特定方面如何有助于其疗效。

{"title":"Exploration of the mechanism of action of cenobamate","authors":"Raman Sankar , Louis Ferrari , Marc Kamin","doi":"10.1016/j.seizure.2025.11.010","DOIUrl":"10.1016/j.seizure.2025.11.010","url":null,"abstract":"<div><div>Antiseizure medications have varied effects on neurotransmitter receptors and ion channels in the brain, yet how these mechanisms of action (MoAs) translate to clinical efficacy is not well understood. Cenobamate, a tetrazole alkyl carbamate antiseizure medication (ASM), has a dual MoA: preferential inhibition of the persistent sodium current (I<sub>NaP</sub>) while sparing the transient sodium current (I<sub>NaT</sub>), combined with extrasynaptic tonic inhibition mediated by positive allosteric modulation of gamma-aminobutyric acid type A (GABA<sub>A</sub>) receptors. In preclinical studies, cenobamate demonstrated broad-spectrum activity across various animal models of focal and generalized seizures. In clinical trials, cenobamate demonstrated rates of seizure freedom not observed with other voltage-gated sodium channel blockers (SCBs), whose main MoA involves modulating I<sub>NaT</sub> or GABA<sub>A</sub>. In addition, real-world evidence suggests cenobamate may have efficacy in adult Dravet syndrome, a loss-of-function sodium channelopathy typically aggravated by SCBs. Cenobamate’s selectivity for I<sub>NaP</sub> occurs at therapeutic concentrations, a characteristic seemingly unique among ASMs. Moreover, cenobamate preferentially modulates tonic (extrasynaptic) currents over phasic (synaptic) GABA<sub>A</sub> currents. These combined mechanistic effects may represent an emerging class of ASMs and could explain cenobamate’s broad-spectrum effect in animal seizure models and its efficacy for focal seizures in humans. In this review, we examine how cenobamate interacts with sodium currents and GABA receptor physiology and review cenobamate’s efficacy profile in humans. Finally, we will postulate how specific aspects of cenobamate’s dual MoA may contribute to its efficacy in comparison to other ASMs with similar MoAs.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 79-85"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145597982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect PIGA变异与局灶性癫痫有关，具有良好的预后和亚分子效应。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-30 DOI: 10.1016/j.seizure.2025.11.021

Meizhuang Zhou , Yu Luo , Ruihan Yang , Liting Zhang , Weili Hao , Dezhi Cao , Zhigang Liu , Qing Zhou , Xiaorong Liu , Bingmei Li , Peng Zhou , Bin Li , Xingwang Song

Background

The PIGA gene plays a critical role in glycosylphosphatidylinositol (GPI) biosynthesis. PIGA variants have been linked to multiple congenital anomalies-hypotonia-seizures syndrome 2. While epilepsy is a common manifestation and patients usually show developmental delay, it is unclear whether PIGA variants are associated with pure epilepsy.

Method

Trio-based whole-exome sequencing was performed on individuals with focal epilepsy from the China Epilepsy Gene 1.0 project. The sub-molecular effect, damaging effect of the variants, and spatial-temporal expression of PIGA were analyzed to explore its role in epilepsy.

Results

Six PIGA variants were identified in seven unrelated cases with focal epilepsy. In one family, the variant co-segregated with two affected males. All the variants were inherited from the asymptomatic mothers, consistent with an X-linked recessive inheritance pattern. Five of the variants were absent in the general population and one variant had extremely low frequencies. These variants were predicted to be damaging by commonly used in silico tools. Four cases presented with developmental delay and three showed normal development. Further analysis revealed that variants associated with a severe phenotype were located within the GPI biosynthesis domain, whereas variants associated with focal epilepsy and a favorable outcome were outside functional domains, suggesting a sub-molecular effect. Patients with more severe phenotype also had variants with higher damaging scores, indicating a potential genotype-phenotype correlation. PIGA was highly expressed at the embryoid stage, decreased after birth, and then increased again during infancy and the juvenile stage, consistent with the onset age of the patients.

Conclusion

PIGA variants are potentially associated with focal epilepsy with favorable outcome. The sub-molecular effect helps explain phenotype variations.

背景：PIGA基因在糖基磷脂酰肌醇（GPI）的生物合成中起关键作用。PIGA变异与多种先天性异常有关，如张力低下-癫痫综合征2。虽然癫痫是一种常见的表现，患者通常表现为发育迟缓，但目前尚不清楚PIGA变异是否与纯粹的癫痫有关。方法：对中国癫痫基因1.0项目局灶性癫痫患者进行三基全外显子组测序。通过分析PIGA的亚分子效应、损伤效应和时空表达，探讨其在癫痫中的作用。结果：在7例不相关的局灶性癫痫中发现6个PIGA变异。在一个家庭中，这种变异与两个受影响的男性共同分离。所有变异均遗传自无症状母亲，符合x连锁隐性遗传模式。其中五种变体在一般人群中不存在，一种变体的频率极低。通常使用的硅工具预测这些变体具有破坏性。4例发育迟缓，3例发育正常。进一步的分析显示，与严重表型相关的变异位于GPI生物合成域内，而与局灶性癫痫和有利结果相关的变异位于功能域外，表明亚分子效应。表型更严重的患者也具有更高的破坏性评分，表明潜在的基因型-表型相关性。PIGA在胚胎期高表达，出生后下降，在婴儿期和少年期再次升高，与患者发病年龄一致。结论：PIGA变异可能与局灶性癫痫有关，预后良好。亚分子效应有助于解释表型变异。

{"title":"PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect","authors":"Meizhuang Zhou , Yu Luo , Ruihan Yang , Liting Zhang , Weili Hao , Dezhi Cao , Zhigang Liu , Qing Zhou , Xiaorong Liu , Bingmei Li , Peng Zhou , Bin Li , Xingwang Song","doi":"10.1016/j.seizure.2025.11.021","DOIUrl":"10.1016/j.seizure.2025.11.021","url":null,"abstract":"<div><h3>Background</h3><div>The <em>PIGA</em> gene plays a critical role in glycosylphosphatidylinositol (GPI) biosynthesis. <em>PIGA</em> variants have been linked to multiple congenital anomalies-hypotonia-seizures syndrome 2. While epilepsy is a common manifestation and patients usually show developmental delay, it is unclear whether <em>PIGA</em> variants are associated with pure epilepsy.</div></div><div><h3>Method</h3><div>Trio-based whole-exome sequencing was performed on individuals with focal epilepsy from the China Epilepsy Gene 1.0 project. The sub-molecular effect, damaging effect of the variants, and spatial-temporal expression of <em>PIGA</em> were analyzed to explore its role in epilepsy.</div></div><div><h3>Results</h3><div>Six <em>PIGA</em> variants were identified in seven unrelated cases with focal epilepsy. In one family, the variant co-segregated with two affected males. All the variants were inherited from the asymptomatic mothers, consistent with an X-linked recessive inheritance pattern. Five of the variants were absent in the general population and one variant had extremely low frequencies. These variants were predicted to be damaging by commonly used <em>in silico</em> tools. Four cases presented with developmental delay and three showed normal development. Further analysis revealed that variants associated with a severe phenotype were located within the GPI biosynthesis domain, whereas variants associated with focal epilepsy and a favorable outcome were outside functional domains, suggesting a sub-molecular effect. Patients with more severe phenotype also had variants with higher damaging scores, indicating a potential genotype-phenotype correlation. <em>PIGA</em> was highly expressed at the embryoid stage, decreased after birth, and then increased again during infancy and the juvenile stage, consistent with the onset age of the patients.</div></div><div><h3>Conclusion</h3><div><em>PIGA</em> variants are potentially associated with focal epilepsy with favorable outcome. The sub-molecular effect helps explain phenotype variations.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 139-146"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145696408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Seizure control, delivery, and neonatal outcomes in pregnant women with focal epilepsies: a prospective cohort study 局灶性癫痫孕妇的癫痫控制、分娩和新生儿结局：一项前瞻性队列研究

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-24 DOI: 10.1016/j.seizure.2025.11.018

Shahla Melikova , Aytan Mammadbayli

Objective

To prospectively investigate seizure control during pregnancy in women with focal epilepsies, to assess the impact of specific forms of focal epilepsy (FE) on delivery and neonatal outcomes, and to compare these outcomes with those in pregnancies of women without epilepsy.

Methods

Seventy-nine women with FE, recruited from a large cohort of pregnant women, were prospectively evaluated for over a ten-year period. Seizure, obstetric, and neonatal outcomes were analyzed across the different forms of FE.

Results

Seizures occurred in 77.2 % of women with FE, with higher incidence in frontal lobe epilepsy (FLE) (88.2 %) and temporal lobe epilepsy (TLE) (84.1 %) compared with other focal epilepsies (OFEs) (50.0 %) (p = 0.02 and p = 0.0078, respectively). Women with FLE experienced higher rates of seizure worsening and lower odds of remaining seizure-free during pregnancy compared with those with temporal lobe epilepsy TLE and OFEs. Non-adherence to antiseizure medications was significantly associated with increased seizure frequency (p < 0.0001). WWE had higher rates of cesarean section, preterm birth, and premature rupture of membranes compared with women without epilepsy. Neonates of WWE had higher rates of five-minute Apgar scores ≤7 and perinatal hypoxia (pH), with pH significantly associated with any in utero seizure exposure (OR 9.33; p = 0.04), independent of seizure form. Offspring of women with FLE had the highest prevalence of low Apgar scores compared with TLE and OFEs.

Conclusion

Seizure occurrence during pregnancy, rather than the specific form of FE alone, can be considered the primary factor contributing to adverse maternal and neonatal outcomes. These findings emphasize the importance of continuous seizure management, ASM adherence, and individualized perinatal care in WWE.

目的前瞻性研究局灶性癫痫孕妇妊娠期间的癫痫控制情况，评估特定形式局灶性癫痫（FE）对分娩和新生儿结局的影响，并将这些结局与非癫痫孕妇的结局进行比较。方法从大量孕妇队列中招募79名FE妇女，对其进行为期10年的前瞻性评估。分析了不同形式FE的癫痫发作、产科和新生儿结局。结果癫痫发作发生率为77.2%，其中额叶癫痫（FLE）和颞叶癫痫（TLE）发生率分别为88.2%和84.1%，高于其他局灶性癫痫（OFEs）（50.0%）（p = 0.02和p = 0.0078）。与颞叶癫痫（TLE）和颞叶癫痫（OFEs）患者相比，FLE患者在怀孕期间癫痫发作恶化的几率更高，癫痫无发作的几率更低。抗癫痫药物不依从性与癫痫发作频率增加显著相关（p < 0.0001）。与没有癫痫的女性相比，WWE患者有更高的剖宫产、早产和胎膜早破率。WWE新生儿5分钟Apgar评分≤7和围产期缺氧（pH）的发生率较高，pH值与子宫内癫痫发作暴露显著相关（OR 9.33; p = 0.04），与癫痫发作形式无关。与TLE和OFEs相比，FLE女性的后代低Apgar评分的发生率最高。结论妊娠期癫痫发作是导致孕产妇和新生儿不良结局的主要因素，而非单纯的特定形式的FE。这些发现强调了持续癫痫发作管理、ASM依从性和个体化围产期护理在WWE中的重要性。

{"title":"Seizure control, delivery, and neonatal outcomes in pregnant women with focal epilepsies: a prospective cohort study","authors":"Shahla Melikova , Aytan Mammadbayli","doi":"10.1016/j.seizure.2025.11.018","DOIUrl":"10.1016/j.seizure.2025.11.018","url":null,"abstract":"<div><h3>Objective</h3><div>To prospectively investigate seizure control during pregnancy in women with focal epilepsies, to assess the impact of specific forms of focal epilepsy (FE) on delivery and neonatal outcomes, and to compare these outcomes with those in pregnancies of women without epilepsy.</div></div><div><h3>Methods</h3><div>Seventy-nine women with FE, recruited from a large cohort of pregnant women, were prospectively evaluated for over a ten-year period. Seizure, obstetric, and neonatal outcomes were analyzed across the different forms of FE.</div></div><div><h3>Results</h3><div>Seizures occurred in 77.2 % of women with FE, with higher incidence in frontal lobe epilepsy (FLE) (88.2 %) and temporal lobe epilepsy (TLE) (84.1 %) compared with other focal epilepsies (OFEs) (50.0 %) (<em>p</em> = 0.02 and <em>p</em> = 0.0078, respectively). Women with FLE experienced higher rates of seizure worsening and lower odds of remaining seizure-free during pregnancy compared with those with temporal lobe epilepsy TLE and OFEs. Non-adherence to antiseizure medications was significantly associated with increased seizure frequency (<em>p</em> < 0.0001). WWE had higher rates of cesarean section, preterm birth, and premature rupture of membranes compared with women without epilepsy. Neonates of WWE had higher rates of five-minute Apgar scores ≤7 and perinatal hypoxia (pH), with pH significantly associated with any in utero seizure exposure (OR 9.33; <em>p</em> = 0.04), independent of seizure form. Offspring of women with FLE had the highest prevalence of low Apgar scores compared with TLE and OFEs.</div></div><div><h3>Conclusion</h3><div>Seizure occurrence during pregnancy, rather than the specific form of FE alone, can be considered the primary factor contributing to adverse maternal and neonatal outcomes. These findings emphasize the importance of continuous seizure management, ASM adherence, and individualized perinatal care in WWE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 117-125"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145693581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Modified atkins diet in children with developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): A prospective interventional, non-randomized, single-arm study 改良阿特金斯饮食在发展性和癫痫性脑病伴睡眠尖波激活（D/EE-SWAS）患儿中的应用：一项前瞻性、非随机、单臂研究

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-06 DOI: 10.1016/j.seizure.2025.11.007

Shagun Singh , Arushi Gahlot Saini , Deepika Puri , Smita Pattanaik , Rajni Sharma , Prahbhjot Malhi , Renu Suthar , Jitendra K Sahu , Naveen Sankhyan

Purpose

Developmental and Epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS) is a rare and severe childhood epilepsy syndrome often associated with cognitive and language regression. While the ketogenic diet has shown efficacy in drug-resistant epilepsy, its role in D/EE-SWAS remains inadequately studied. This prospective study aimed to evaluate the efficacy and tolerability of the modified Atkins diet (MAD) in children with D/EE-SWAS refractory to standard therapies.

Methods

This was a single-arm, prospective interventional study conducted at a tertiary pediatric neurology unit from January 2022 to June 2023. Children aged 2–16 years with a confirmed diagnosis of D/EE-SWAS, with SWI ≥50 % during NREM sleep on EEG, and clinical evidence of seizure or neurodevelopmental regression despite treatment with at least two ASMs and corticosteroids were enrolled. The primary outcome was the change in SWI at 12 weeks. Secondary outcomes included seizure burden, cognitive outcomes (social quotient), and parent-reported language and behaviour changes at 24 weeks.

Results

Twenty-two children were enrolled; 10 completed 12 weeks and five completed 24 weeks of MAD. At 12 weeks, only 33 % showed a good EEG response (>50 % SWI reduction); one child achieved complete resolution at 24 weeks. Seizure remission (including maintenance of remission in those with no clinical seizures) was observed in 82 %, 90 %, and 100 % at 4, 12, and 24 weeks, respectively. No significant change in cognitive scores was seen. However, 60 % and 40 % of parents reported improvements in language and behaviour. Adverse effects were mostly mild, and compliance was a major barrier, with 54 % discontinuing the diet before 12 weeks.

Conclusion

The MAD was safe but not effective in the treatment of D/EE-SWAS in the short-term, with improvements only seen in seizure control. Its impact on EEG and cognition appears limited in the short-term and poor adherence poses significant challenges.

目的：发展性和癫痫性脑病伴睡眠尖波激活（D/EE-SWAS）是一种罕见且严重的儿童癫痫综合征，常伴有认知和语言退化。虽然生酮饮食已显示出对耐药癫痫的疗效，但其在D/EE-SWAS中的作用仍未得到充分研究。这项前瞻性研究旨在评估改良阿特金斯饮食（MAD）对标准治疗难治性D/EE-SWAS患儿的疗效和耐受性。方法：这是一项单臂前瞻性介入研究，于2022年1月至2023年6月在一所三级儿科神经内科进行。年龄2-16岁的儿童，确诊为D/EE-SWAS，脑电图非快速眼动睡眠期间SWI≥50%，尽管接受了至少两次asm和皮质类固醇治疗，但仍有癫痫发作或神经发育倒退的临床证据。主要终点是12周时SWI的变化。次要结果包括癫痫发作负担、认知结果（社会商数）和父母报告的24周时的语言和行为变化。结果：22名儿童入组；10人完成了12周的MAD， 5人完成了24周的MAD。12周时，只有33%的患者表现出良好的脑电图反应（SWI减少50%）；一个孩子在24周时完全康复。在第4周、第12周和第24周，癫痫发作缓解（包括无临床癫痫发作患者的缓解维持）分别为82%、90%和100%。认知评分没有明显变化。然而，60%和40%的父母报告说，他们的语言和行为有所改善。副作用大多是轻微的，依从性是主要障碍，54%的患者在12周前停止饮食。结论：MAD在短期内治疗D/EE-SWAS是安全的，但并不有效，仅在癫痫发作控制方面有所改善。它对脑电图和认知的影响在短期内似乎有限，依从性差带来了重大挑战。

{"title":"Modified atkins diet in children with developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): A prospective interventional, non-randomized, single-arm study","authors":"Shagun Singh , Arushi Gahlot Saini , Deepika Puri , Smita Pattanaik , Rajni Sharma , Prahbhjot Malhi , Renu Suthar , Jitendra K Sahu , Naveen Sankhyan","doi":"10.1016/j.seizure.2025.11.007","DOIUrl":"10.1016/j.seizure.2025.11.007","url":null,"abstract":"<div><h3>Purpose</h3><div>Developmental and Epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS) is a rare and severe childhood epilepsy syndrome often associated with cognitive and language regression. While the ketogenic diet has shown efficacy in drug-resistant epilepsy, its role in D/EE-SWAS remains inadequately studied. This prospective study aimed to evaluate the efficacy and tolerability of the modified Atkins diet (MAD) in children with D/EE-SWAS refractory to standard therapies.</div></div><div><h3>Methods</h3><div>This was a single-arm, prospective interventional study conducted at a tertiary pediatric neurology unit from January 2022 to June 2023. Children aged 2–16 years with a confirmed diagnosis of D/EE-SWAS, with SWI ≥50 % during NREM sleep on EEG, and clinical evidence of seizure or neurodevelopmental regression despite treatment with at least two ASMs and corticosteroids were enrolled. The primary outcome was the change in SWI at 12 weeks. Secondary outcomes included seizure burden, cognitive outcomes (social quotient), and parent-reported language and behaviour changes at 24 weeks.</div></div><div><h3>Results</h3><div>Twenty-two children were enrolled; 10 completed 12 weeks and five completed 24 weeks of MAD. At 12 weeks, only 33 % showed a good EEG response (>50 % SWI reduction); one child achieved complete resolution at 24 weeks. Seizure remission (including maintenance of remission in those with no clinical seizures) was observed in 82 %, 90 %, and 100 % at 4, 12, and 24 weeks, respectively. No significant change in cognitive scores was seen. However, 60 % and 40 % of parents reported improvements in language and behaviour. Adverse effects were mostly mild, and compliance was a major barrier, with 54 % discontinuing the diet before 12 weeks.</div></div><div><h3>Conclusion</h3><div>The MAD was safe but not effective in the treatment of D/EE-SWAS in the short-term, with improvements only seen in seizure control. Its impact on EEG and cognition appears limited in the short-term and poor adherence poses significant challenges.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 37-44"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145574881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders mef2c相关神经发育障碍临床表型和遗传特征的比较分析

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-06 DOI: 10.1016/j.seizure.2025.12.003

Xin Li , Jia-Jun Ma , Lin-Xue Meng , Zi-Yao Han , Qin-Lan Li , Xiao-Yue Yang , Ling-Ling Xie , Li Jiang

Background

Myocyte enhancer factor 2C (MEF2C) is among the important genes associated with neurodevelopmental disorders (NDDs). The phenotypic distinctions between MEF2C pathogenic variants and 5q14.3 microdeletions remain unclear.

Methods

We retrospectively collected the information of patients from our centre between May 2019 and October 2024 and identified them as having MEF2C mutations by whole-exome sequencing (WES). We searched the literature related to MEF2C mutations and 5q14.3 microdeletions and summarized the clinical features and genetic characteristics of the patients.

Results

Five patients with MEF2C mutations were identified from our hospital, and 34 articles were selected for analysis. Data from 62 MEF2C-associated copy number variations (CNVs) and 42 MEF2C mutations were analysed. We found that regression was more common in the mutation group (21.6 %, 8/37) than in the CNV group (2.0 %, 1/51; P = 0.008). Patients with mutations in MEF2C were more likely to present with a history of febrile seizures (45.2 % vs. 25.8 %, P = 0.040) and autistic traits (91.9 % vs. 74.5 %, P = 0.037). Myoclonic seizures (29.4 % vs. 70.6 %, P = 0.025), infantile epileptic spasm syndrome (3.3 % vs. 31.8 %, P = 0.018), refractory epilepsy (11.1 % vs. 47.8 %, P = 0.012), diffuse epileptiform discharges from electroencephalograms (15.0 % vs. 42.9 %, P = 0.2) and abnormal corpus callosum (23.1 % vs. 55.9, P = 0.06) may occur more often in the CNV group.

Conclusion

Patients with CNVs presented a higher prevalence of refractory epilepsy and vascular malformations, whereas those with point mutations more frequently presented with developmental regression, febrile seizure history and autistic traits. These genotype–phenotype correlations could inform genetic testing strategies.

背景肌细胞增强因子2C （MEF2C）是与神经发育障碍（ndd）相关的重要基因之一。MEF2C致病变异和5q14.3微缺失之间的表型差异尚不清楚。方法回顾性收集2019年5月至2024年10月在本中心就诊的患者信息，通过全外显子组测序（WES）鉴定为MEF2C突变患者。我们检索了MEF2C突变和5q14.3微缺失的相关文献，总结了患者的临床特征和遗传特征。结果本院MEF2C突变患者5例，选取34篇文献进行分析。分析了62个MEF2C相关拷贝数变异（CNVs）和42个MEF2C突变的数据。我们发现突变组（21.6%,8/37）的回归比CNV组（2.0%,1/51;P = 0.008）更为常见。MEF2C基因突变的患者更有可能出现发热性惊厥史（45.2%对25.8%,P = 0.040）和自闭症特征（91.9%对74.5%,P = 0.037）。肌阵挛性发作（29.4% vs. 70.6%, P = 0.025）、婴儿癫痫痉挛综合征（3.3% vs. 31.8%, P = 0.018）、难固性癫痫（11.1% vs. 47.8%, P = 0.012）、脑电图弥漫性癫痫样放电（15.0% vs. 42.9%, P = 0.2）和胼胝体异常（23.1% vs. 55.9%, P = 0.06）在CNV组更常见。结论CNVs患者出现顽固性癫痫和血管畸形的比例较高，而点突变患者出现发育倒退、热性癫痫发作史和自闭症特征的比例较高。这些基因型-表型相关性可以为基因检测策略提供信息。

{"title":"Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders","authors":"Xin Li , Jia-Jun Ma , Lin-Xue Meng , Zi-Yao Han , Qin-Lan Li , Xiao-Yue Yang , Ling-Ling Xie , Li Jiang","doi":"10.1016/j.seizure.2025.12.003","DOIUrl":"10.1016/j.seizure.2025.12.003","url":null,"abstract":"<div><h3>Background</h3><div>Myocyte enhancer factor 2C (<em>MEF2C</em>) is among the important genes associated with neurodevelopmental disorders (NDDs). The phenotypic distinctions between <em>MEF2C</em> pathogenic variants and 5q14.3 microdeletions remain unclear.</div></div><div><h3>Methods</h3><div>We retrospectively collected the information of patients from our centre between May 2019 and October 2024 and identified them as having <em>MEF2C</em> mutations by whole-exome sequencing (WES). We searched the literature related to <em>MEF2C</em> mutations and 5q14.3 microdeletions and summarized the clinical features and genetic characteristics of the patients.</div></div><div><h3>Results</h3><div>Five patients with <em>MEF2C</em> mutations were identified from our hospital, and 34 articles were selected for analysis. Data from 62 <em>MEF2C</em>-associated copy number variations (CNVs) and 42 <em>MEF2C</em> mutations were analysed. We found that regression was more common in the mutation group (21.6 %, 8/37) than in the CNV group (2.0 %, 1/51; <em>P</em> = 0.008). Patients with mutations in <em>MEF2C</em> were more likely to present with a history of febrile seizures (45.2 % vs. 25.8 %, <em>P</em> = 0.040) and autistic traits (91.9 % vs. 74.5 %, <em>P</em> = 0.037). Myoclonic seizures (29.4 % vs. 70.6 %, <em>P</em> = 0.025), infantile epileptic spasm syndrome (3.3 % vs. 31.8 %, <em>P</em> = 0.018), refractory epilepsy (11.1 % vs. 47.8 %, <em>P</em> = 0.012), diffuse epileptiform discharges from electroencephalograms (15.0 % vs. 42.9 %, <em>P</em> = 0.2) and abnormal corpus callosum (23.1 % vs. 55.9, <em>P</em> = 0.06) may occur more often in the CNV group.</div></div><div><h3>Conclusion</h3><div>Patients with CNVs presented a higher prevalence of refractory epilepsy and vascular malformations, whereas those with point mutations more frequently presented with developmental regression, febrile seizure history and autistic traits. These genotype–phenotype correlations could inform genetic testing strategies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 152-164"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145748756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Response to comments of Ďurčová et al 对Ďurčová等人评论的回应

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-19 DOI: 10.1016/j.seizure.2025.11.014

Rekha Dwivedi, Yogendra Kumar Gupta, Meenakshi Singh, Rupa Joshi, Prabhakar Tiwari, Thomas Kaleekal, Manjari Tripathi

引用次数: 0

An updated overview on clinical and developmental trajectories of developmental and epileptic encephalopathies: From childhood to adulthood 发展性和癫痫性脑病的临床和发展轨迹的最新概述：从儿童期到成年期

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-16 DOI: 10.1016/j.seizure.2025.12.009

Mario Mastrangelo , Carlo Di Bonaventura , Giuliana Lentini , Francesco Pisani

Developmental and epileptic encephalopathies (DEEs) are a group of diseases characterized by recurring drug-resistant seizures, frequent EEG epileptiform abnormalities and a developmental slowing/regression.

This narrative review aimed to analyse the progression of DEEs across the lifespan to characterize the clinical and developmental implications of these conditions in the different age-ranges. The lifespan evolution of DEEs includes age-dependent patterns ranging from severe epilepsy phenotypes during the infancy associated with the loss of previously acquired developmental milestones to a decreased seizure frequency in patients with a profound intellectual/motor disability, a possible neurodegenerative course or a hypokinetic movement disorder consistent with parkinsonian features during adulthood.

Seizure semeiology may be variable with earlier forms mainly presenting with tonic and myoclonic seizures and motor manifestations being more concentrated during the sleep in adults. EEG patterns may vary between abundant interictal epileptiform abnormalities in most cases with a worse developmental outcome associated with an earlier age at their detection.

The developmental impact of DEEs depends on the underlying aetiologies, the evolution of epilepsy phenotypes and the effects of antiseizure treatments. Predictors of negative outcome influencing neurocognitive, emotional and behavioural functioning include earlier age at seizure-onset, earlier age at the introduction of antiseizure treatments, altered EEG maturation/organization, longer history of epilepsy and occurrence of status epilepticus.

The optimization of transition of care to adult epilepsy centres might include a model of global reassessment based on the evaluation of seizure freedom and cognitive patterns, self-independence and social relationships and of the burden of the disease on caregivers.

发展性和癫痫性脑病（dee）是一组以反复出现的耐药癫痫发作、频繁的脑电图癫痫样异常和发育减慢/倒退为特征的疾病。这篇叙述性综述旨在分析dee在整个生命周期中的进展，以表征这些疾病在不同年龄段的临床和发育意义。dei的寿命演变包括年龄依赖模式，从婴儿期与先前获得的发育里程碑丧失相关的严重癫痫表型，到患有严重智力/运动障碍的患者癫痫发作频率降低，可能出现神经退行性病程或成年期与帕金森病特征一致的运动障碍。发作符号学可能是可变的，早期形式主要表现为强直性和肌阵挛性发作，运动表现在成人睡眠期间更集中。脑电图模式可能不同，在大多数情况下，丰富的间断性癫痫样异常与较早发现的年龄有关，发育结果较差。DEEs对发育的影响取决于潜在的病因、癫痫表型的演变和抗癫痫治疗的效果。影响神经认知、情绪和行为功能的负面结果的预测因素包括癫痫发作年龄更早、抗癫痫治疗年龄更早、脑电图成熟/组织改变、癫痫史更长的时间和癫痫持续状态的发生。优化向成人癫痫中心过渡的护理工作可包括一种基于癫痫发作自由和认知模式、自我独立和社会关系以及疾病对护理者负担的评估的全球重新评估模型。

{"title":"An updated overview on clinical and developmental trajectories of developmental and epileptic encephalopathies: From childhood to adulthood","authors":"Mario Mastrangelo , Carlo Di Bonaventura , Giuliana Lentini , Francesco Pisani","doi":"10.1016/j.seizure.2025.12.009","DOIUrl":"10.1016/j.seizure.2025.12.009","url":null,"abstract":"<div><div>Developmental and epileptic encephalopathies (DEEs) are a group of diseases characterized by recurring drug-resistant seizures, frequent EEG epileptiform abnormalities and a developmental slowing/regression.</div><div>This narrative review aimed to analyse the progression of DEEs across the lifespan to characterize the clinical and developmental implications of these conditions in the different age-ranges. The lifespan evolution of DEEs includes age-dependent patterns ranging from severe epilepsy phenotypes during the infancy associated with the loss of previously acquired developmental milestones to a decreased seizure frequency in patients with a profound intellectual/motor disability, a possible neurodegenerative course or a hypokinetic movement disorder consistent with parkinsonian features during adulthood.</div><div>Seizure semeiology may be variable with earlier forms mainly presenting with tonic and myoclonic seizures and motor manifestations being more concentrated during the sleep in adults. EEG patterns may vary between abundant interictal epileptiform abnormalities in most cases with a worse developmental outcome associated with an earlier age at their detection.</div><div>The developmental impact of DEEs depends on the underlying aetiologies, the evolution of epilepsy phenotypes and the effects of antiseizure treatments. Predictors of negative outcome influencing neurocognitive, emotional and behavioural functioning include earlier age at seizure-onset, earlier age at the introduction of antiseizure treatments, altered EEG maturation/organization, longer history of epilepsy and occurrence of status epilepticus.</div><div>The optimization of transition of care to adult epilepsy centres might include a model of global reassessment based on the evaluation of seizure freedom and cognitive patterns, self-independence and social relationships and of the burden of the disease on caregivers.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 190-197"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145796922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Characterizing vascular tone in nocturnal major motor seizures using wearable photoplethysmography 应用可穿戴式光容积脉搏波描记术表征夜间大运动发作时的血管张力

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-04 DOI: 10.1016/j.seizure.2025.12.001

Mohammad Shahbakhti , Anemoon T. Bosch , Xi Long , Johannes P. van Dijk , Roland D. Thijs

Objective:

The impact of seizures on the peripheral vascular system has not been well studied. Here, we used wearable photoplethysmography (PPG) to characterize peripheral vascular tone dynamics in children with refractory epilepsy.

Methods:

We used data from the PROMISE trial, which included children aged 4–16 years with nocturnal major motor seizures. We selected continuous 10-minute PPG segments, each spanning the seizure-free baseline, pre-ictal, ictal, and post-ictal phases. The amplitude modulation (AM) of the PPG signal, representing the slow variation in pulse amplitude and serving as a proxy for relative blood volume, was analyzed to characterize peripheral vascular tone. We applied a linear mixed-effects model to compare the AM across pre-ictal, ictal, and post-ictal phases relative to the baseline.

Results:

We studied 135 seizure events from 13 children (42% female; mean age: 9.7

\pm

3.6 years). Our analysis revealed a significant AM decrease during the pre-ictal phase (

p < 0.05

), with a more pronounced decrease during the ictal and post-ictal phases (

p < 0.001

) relative to the baseline.

Significance:

Seizures impact peripheral vascular tone with signs of vasoconstriction that persists into the post-ictal phase.

目的：癫痫发作对周围血管系统的影响尚未得到很好的研究。在这里，我们使用可穿戴式光容积脉搏波描记仪（PPG）来描述难治性癫痫儿童的周围血管张力动力学。方法：我们使用PROMISE试验的数据，其中包括4-16岁夜间主要运动发作的儿童。我们选择连续10分钟的PPG片段，每个片段跨越无癫痫发作基线、发作前、发作前和发作后阶段。PPG信号的调幅（AM），代表脉冲幅度的缓慢变化，并作为相对血容量的代理，分析表征周围血管张力。我们应用了一个线性混合效应模型来比较相对于基线，在孕前、孕中和孕后阶段的AM。结果：我们研究了13例儿童135例癫痫发作事件（42%为女性，平均年龄9.7±3.6岁）。我们的分析显示，相对于基线，在临界点前阶段AM显著下降（p<0.05），在临界点和临界点后阶段AM下降更为明显（p<0.001）。意义：癫痫发作影响周围血管张力，血管收缩的迹象持续到后癫痫期。

{"title":"Characterizing vascular tone in nocturnal major motor seizures using wearable photoplethysmography","authors":"Mohammad Shahbakhti , Anemoon T. Bosch , Xi Long , Johannes P. van Dijk , Roland D. Thijs","doi":"10.1016/j.seizure.2025.12.001","DOIUrl":"10.1016/j.seizure.2025.12.001","url":null,"abstract":"<div><h3>Objective:</h3><div>The impact of seizures on the peripheral vascular system has not been well studied. Here, we used wearable photoplethysmography (PPG) to characterize peripheral vascular tone dynamics in children with refractory epilepsy.</div></div><div><h3>Methods:</h3><div>We used data from the PROMISE trial, which included children aged 4–16 years with nocturnal major motor seizures. We selected continuous 10-minute PPG segments, each spanning the seizure-free baseline, pre-ictal, ictal, and post-ictal phases. The amplitude modulation (AM) of the PPG signal, representing the slow variation in pulse amplitude and serving as a proxy for relative blood volume, was analyzed to characterize peripheral vascular tone. We applied a linear mixed-effects model to compare the AM across pre-ictal, ictal, and post-ictal phases relative to the baseline.</div></div><div><h3>Results:</h3><div>We studied 135 seizure events from 13 children (42% female; mean age: 9.7 <span><math><mo>±</mo></math></span> 3.6 years). Our analysis revealed a significant AM decrease during the pre-ictal phase (<span><math><mrow><mi>p</mi><mo><</mo><mn>0</mn><mo>.</mo><mn>05</mn></mrow></math></span>), with a more pronounced decrease during the ictal and post-ictal phases (<span><math><mrow><mi>p</mi><mo><</mo><mn>0</mn><mo>.</mo><mn>001</mn></mrow></math></span>) relative to the baseline.</div></div><div><h3>Significance:</h3><div>Seizures impact peripheral vascular tone with signs of vasoconstriction that persists into the post-ictal phase.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 186-189"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145796920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0