首页 > 最新文献

Seizure-European Journal of Epilepsy最新文献

英文 中文
Nationwide registry-linked retrospective cohort study of Ganglioglioma in children and adults: Long-term follow-up of anti-seizure medication and mortality 儿童和成人神经节胶质瘤的全国登记回顾性队列研究:抗癫痫药物和死亡率的长期随访
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-06 DOI: 10.1016/j.seizure.2026.01.002
Irena Grubor , Maria Compagno Strandberg , Johan Bengzon

Purpose

Gangliogliomas are highly epileptogenic tumors that are common in epilepsy surgery. The main aim of this study was to investigate whether the outcome of Anti-seizure medication (ASM) withdrawal differed between patients undergoing ganglioglioma surgery in an epilepsy surgery program compared with those who underwent surgery in other surgical programs. We also investigated which factors influence ASM discontinuation after ganglioglioma surgery.

Method

We achieved a nationwide Swedish coverage by retrieving and linking data from five registries, including 144 patients of all ages with surgically confirmed ganglioglioma (ICD-O-95051/95053) treated between 2005 and 2019. Cases required concordance across registries and unmatched records were excluded. Key variables included age at surgery, waiting time for surgery, and tumor location, along with demographic, surgical, and ASM-related data. ASM discontinuation was defined as a 14-month dispensing-free interval. Associations with ASM discontinuation were examined using nonparametric tests, Kaplan-Meier estimates and Cox regression.

Results

Most patients, 76%, had been prescribed ASM during the study period. Increasing age was found to be negatively associated with ASM withdrawal. Five years after surgery, 36% of adults and 59% of children had discontinued ASMs. There was no difference in ASM withdrawal in patients who had undergone surgery in an epilepsy surgery program compared with those who had not. Mortality was 15% overall.

Conclusions

This study demonstrates that long-term ASM discontinuation after ganglioglioma surgery is negatively associated with increasing age. ASM discontinuation is the same for those undergoing surgery in an epilepsy surgery program as for those who do not. Future studies are needed to explore why older patients are less likely to discontinue ASM treatment after ganglioglioma surgery.
目的神经节胶质瘤是癫痫手术中常见的高致痫性肿瘤。本研究的主要目的是调查在癫痫手术项目中接受神经节胶质瘤手术的患者与在其他手术项目中接受手术的患者之间,抗癫痫药物(ASM)停药的结果是否存在差异。我们还研究了影响神经节胶质瘤手术后ASM停止的因素。方法:通过检索和连接来自5个注册中心的数据,我们实现了瑞典全国范围的覆盖,包括144名在2005年至2019年期间接受手术证实的神经节胶质瘤(ICD-O-95051/95053)患者。需要跨注册表进行一致性记录和不匹配记录的病例被排除在外。关键变量包括手术年龄、手术等待时间、肿瘤位置,以及人口统计学、外科和asm相关数据。ASM停药定义为14个月无配药间隔。采用非参数检验、Kaplan-Meier估计和Cox回归检验与ASM停药的关系。结果76%的患者在研究期间使用了ASM。年龄增加与ASM戒断呈负相关。手术后5年,36%的成人和59%的儿童停止了asm。在癫痫手术项目中接受手术的患者与未接受手术的患者在ASM戒断方面没有差异。总体死亡率为15%。结论:神经节胶质瘤术后长期ASM停药与年龄增长呈负相关。在癫痫手术项目中接受手术的患者和没有接受手术的患者停用ASM的方法是一样的。未来的研究需要探讨为什么老年患者在神经节胶质瘤手术后不太可能停止ASM治疗。
{"title":"Nationwide registry-linked retrospective cohort study of Ganglioglioma in children and adults: Long-term follow-up of anti-seizure medication and mortality","authors":"Irena Grubor ,&nbsp;Maria Compagno Strandberg ,&nbsp;Johan Bengzon","doi":"10.1016/j.seizure.2026.01.002","DOIUrl":"10.1016/j.seizure.2026.01.002","url":null,"abstract":"<div><h3>Purpose</h3><div>Gangliogliomas are highly epileptogenic tumors that are common in epilepsy surgery. The main aim of this study was to investigate whether the outcome of Anti-seizure medication (ASM) withdrawal differed between patients undergoing ganglioglioma surgery in an epilepsy surgery program compared with those who underwent surgery in other surgical programs. We also investigated which factors influence ASM discontinuation after ganglioglioma surgery.</div></div><div><h3>Method</h3><div>We achieved a nationwide Swedish coverage by retrieving and linking data from five registries, including 144 patients of all ages with surgically confirmed ganglioglioma (ICD-O-95051/95053) treated between 2005 and 2019. Cases required concordance across registries and unmatched records were excluded. Key variables included age at surgery, waiting time for surgery, and tumor location, along with demographic, surgical, and ASM-related data. ASM discontinuation was defined as a 14-month dispensing-free interval. Associations with ASM discontinuation were examined using nonparametric tests, Kaplan-Meier estimates and Cox regression.</div></div><div><h3>Results</h3><div>Most patients, 76%, had been prescribed ASM during the study period. Increasing age was found to be negatively associated with ASM withdrawal. Five years after surgery, 36% of adults and 59% of children had discontinued ASMs. There was no difference in ASM withdrawal in patients who had undergone surgery in an epilepsy surgery program compared with those who had not. Mortality was 15% overall.</div></div><div><h3>Conclusions</h3><div>This study demonstrates that long-term ASM discontinuation after ganglioglioma surgery is negatively associated with increasing age. ASM discontinuation is the same for those undergoing surgery in an epilepsy surgery program as for those who do not. Future studies are needed to explore why older patients are less likely to discontinue ASM treatment after ganglioglioma surgery.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 4-10"},"PeriodicalIF":2.8,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145928434","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
Association between electrographic seizures and better neurological functional outcomes in non-convulsive status epilepticus 非惊厥性癫痫持续状态的电痉挛发作与更好的神经功能结局之间的关系。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-01 DOI: 10.1016/j.seizure.2025.12.014
Kazuma Koda , Masaya Togo , Kohei Morimoto , Kento Matoba , Mayumi Otani , Yasufumi Kageyama , Riki Matsumoto

Objective

In non-convulsive status epilepticus (NCSE), predicting patient outcomes is crucial in deciding treatment intensity. However, electroencephalograms (EEGs) of NCSE show various patterns, and their relationship with functional outcomes remains unclear. We aimed to examine the relationship between NCSE EEG patterns and functional outcomes.

Methods

We retrospectively collected data from 105 NCSE patients without cardiopulmonary arrest at two centers and compared functional outcomes in NCSE patients with electrographic seizures (ESz) and those with rhythmic/periodic patterns (RPPs) at discharge. Functional outcomes were assessed using the dichotomized modified Rankin scale (≥4 or less), with univariate and multivariate analyses conducted on patient backgrounds and therapeutic interventions. We compared background activities and discharge waveforms in periodic discharges (PDs) using the Fourier transform.

Results

ESz independently predicted better outcomes after adjusting for severity (Glasgow Coma Scale and Epidemiology-based Mortality Score). In PDs, the group with better outcomes exhibited larger alpha-band background activity and larger post-discharge slow waves.

Conclusions

NCSE with ESz was associated with better functional outcomes than RPPs alone. Spared alpha-band background activity and larger amplitude of post-discharge slow shifts may indicate spared brain function in patients with PDs.

Significance

These results could assist in predicting outcomes and deciding treatment intensity in NCSE.
目的:在非惊厥性癫痫持续状态(NCSE)中,预测患者预后是决定治疗强度的关键。然而,脑电图(eeg)显示出不同的模式,它们与功能结局的关系尚不清楚。我们的目的是研究NCSE脑电图模式与功能预后之间的关系。方法:我们回顾性收集了两个中心105例无心肺骤停的NCSE患者的资料,并比较了出院时出现电痉挛(ESz)的NCSE患者和出现节律性/周期性发作(RPPs)的NCSE患者的功能结局。功能结局采用二分类改良Rankin量表(≥4)进行评估,并对患者背景和治疗干预进行单因素和多因素分析。我们使用傅里叶变换比较了周期性放电(pd)的背景活动和放电波形。结果:在调整严重程度(格拉斯哥昏迷量表和基于流行病学的死亡率评分)后,ESz独立预测了更好的结果。在pd中,预后较好的组表现出更大的α波段背景活动和更大的放电后慢波。结论:与单纯RPPs相比,NCSE合并ESz的功能预后更好。备用α带背景活动和较大的放电后慢移幅度可能表明pd患者有备用脑功能。意义:这些结果有助于预测NCSE的预后和决定治疗强度。
{"title":"Association between electrographic seizures and better neurological functional outcomes in non-convulsive status epilepticus","authors":"Kazuma Koda ,&nbsp;Masaya Togo ,&nbsp;Kohei Morimoto ,&nbsp;Kento Matoba ,&nbsp;Mayumi Otani ,&nbsp;Yasufumi Kageyama ,&nbsp;Riki Matsumoto","doi":"10.1016/j.seizure.2025.12.014","DOIUrl":"10.1016/j.seizure.2025.12.014","url":null,"abstract":"<div><h3>Objective</h3><div>In non-convulsive status epilepticus (NCSE), predicting patient outcomes is crucial in deciding treatment intensity. However, electroencephalograms (EEGs) of NCSE show various patterns, and their relationship with functional outcomes remains unclear. We aimed to examine the relationship between NCSE EEG patterns and functional outcomes.</div></div><div><h3>Methods</h3><div>We retrospectively collected data from 105 NCSE patients without cardiopulmonary arrest at two centers and compared functional outcomes in NCSE patients with electrographic seizures (ESz) and those with rhythmic/periodic patterns (RPPs) at discharge. Functional outcomes were assessed using the dichotomized modified Rankin scale (≥4 or less), with univariate and multivariate analyses conducted on patient backgrounds and therapeutic interventions. We compared background activities and discharge waveforms in periodic discharges (PDs) using the Fourier transform.</div></div><div><h3>Results</h3><div>ESz independently predicted better outcomes after adjusting for severity (Glasgow Coma Scale and Epidemiology-based Mortality Score). In PDs, the group with better outcomes exhibited larger alpha-band background activity and larger post-discharge slow waves.</div></div><div><h3>Conclusions</h3><div>NCSE with ESz was associated with better functional outcomes than RPPs alone. Spared alpha-band background activity and larger amplitude of post-discharge slow shifts may indicate spared brain function in patients with PDs.</div></div><div><h3>Significance</h3><div>These results could assist in predicting outcomes and deciding treatment intensity in NCSE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 238-246"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145879136","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
Optimal cutoff score for diagnosing generalized anxiety disorder with the Generalized Anxiety Disorder 7-item scale in people living with epilepsy: A systematic review with diagnostic test accuracy meta-analysis 癫痫患者用广泛性焦虑障碍7项量表诊断广泛性焦虑障碍的最佳临界值:一项带有诊断测试准确性荟萃分析的系统评价。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-01 DOI: 10.1016/j.seizure.2025.12.008
Minjung Kim , Rock Bum Kim , Tae-Won Yang , Young-Soo Kim , Do-Hyung Kim , Oh-Young Kwon

Background and Purpose

The Generalized Anxiety Disorder 7-item (GAD-7) is a self-report questionnaire assessing anxiety-related symptoms experienced over the past two weeks. The GAD-7 is widely used to screen for generalized anxiety disorder (GAD), and reported optimal cutoff scores for detecting GAD in people living with epilepsy (PLWE) range between >6 and >9. This meta-analysis aims to determine the most appropriate GAD-7 cutoff score for PLWE.

Methods

We identified relevant studies through comprehensive searches in MEDLINE, Embase, Cochrane Library, Web of Science, and Scopus. Studies included original research examining GAD-7 accuracy for detecting GAD in adult PLWE, using structured diagnostic interviews including the Mini International Neuropsychiatric Interview as a reference standard. Only studies providing sufficient data for meta-analysis were included, including the number of PLWE with GAD, the total participant number, sensitivity, and specificity. We performed summary receiver operating characteristic curve analyses.

Results

Seven studies conducted in outpatient epilepsy clinics were included. The area under the curve (AUC) ranged between 0.91 and 0.96 across cutoff scores from >5 to >9. The cutoff score of >6 provided the best balance of diagnostic accuracy, with an AUC of 0.96, sensitivity of 0.95, and specificity of 0.83.

Conclusions

The GAD-7 cutoff score of >6 has optimal diagnostic performance for screening GAD in PLWE. These results offer valuable guidance for clinicians and researchers applying the GAD-7 questionnaire to detect GAD among PLWE, especially in geographic areas without previously validated language-specific versions.
背景和目的:广泛性焦虑障碍7项(GAD-7)是一份评估过去两周内经历的焦虑相关症状的自我报告问卷。GAD-7被广泛用于筛查广泛性焦虑障碍(GAD),据报道,在癫痫患者(PLWE)中检测广泛性焦虑症的最佳临界值在bbbb6和bbbb9之间。本荟萃分析旨在确定PLWE最合适的GAD-7截止评分。方法:通过MEDLINE、Embase、Cochrane Library、Web of Science、Scopus等数据库进行综合检索,确定相关研究。研究包括检验GAD-7在成人PLWE中检测GAD准确性的原始研究,使用结构化诊断访谈,包括迷你国际神经精神病学访谈作为参考标准。仅纳入提供足够数据进行meta分析的研究,包括伴有广泛性焦虑症的PLWE数量、总参与人数、敏感性和特异性。我们进行了汇总的受试者工作特征曲线分析。结果:纳入在癫痫门诊进行的7项研究。曲线下面积(AUC)在>5至>9的截止分数范围内为0.91至0.96。截断评分>.6提供了诊断准确性的最佳平衡,AUC为0.96,敏感性为0.95,特异性为0.83。结论:GAD-7截止评分bbbb6对PLWE患者GAD的诊断效果最佳。这些结果为临床医生和研究人员应用GAD-7问卷来检测PLWE中的GAD提供了有价值的指导,特别是在以前没有经过验证的语言特定版本的地理区域。
{"title":"Optimal cutoff score for diagnosing generalized anxiety disorder with the Generalized Anxiety Disorder 7-item scale in people living with epilepsy: A systematic review with diagnostic test accuracy meta-analysis","authors":"Minjung Kim ,&nbsp;Rock Bum Kim ,&nbsp;Tae-Won Yang ,&nbsp;Young-Soo Kim ,&nbsp;Do-Hyung Kim ,&nbsp;Oh-Young Kwon","doi":"10.1016/j.seizure.2025.12.008","DOIUrl":"10.1016/j.seizure.2025.12.008","url":null,"abstract":"<div><h3>Background and Purpose</h3><div>The Generalized Anxiety Disorder 7-item (GAD-7) is a self-report questionnaire assessing anxiety-related symptoms experienced over the past two weeks. The GAD-7 is widely used to screen for generalized anxiety disorder (GAD), and reported optimal cutoff scores for detecting GAD in people living with epilepsy (PLWE) range between &gt;6 and &gt;9. This meta-analysis aims to determine the most appropriate GAD-7 cutoff score for PLWE.</div></div><div><h3>Methods</h3><div>We identified relevant studies through comprehensive searches in MEDLINE, Embase, Cochrane Library, Web of Science, and Scopus. Studies included original research examining GAD-7 accuracy for detecting GAD in adult PLWE, using structured diagnostic interviews including the Mini International Neuropsychiatric Interview as a reference standard. Only studies providing sufficient data for meta-analysis were included, including the number of PLWE with GAD, the total participant number, sensitivity, and specificity. We performed summary receiver operating characteristic curve analyses.</div></div><div><h3>Results</h3><div>Seven studies conducted in outpatient epilepsy clinics were included. The area under the curve (AUC) ranged between 0.91 and 0.96 across cutoff scores from &gt;5 to &gt;9. The cutoff score of &gt;6 provided the best balance of diagnostic accuracy, with an AUC of 0.96, sensitivity of 0.95, and specificity of 0.83.</div></div><div><h3>Conclusions</h3><div>The GAD-7 cutoff score of &gt;6 has optimal diagnostic performance for screening GAD in PLWE. These results offer valuable guidance for clinicians and researchers applying the GAD-7 questionnaire to detect GAD among PLWE, especially in geographic areas without previously validated language-specific versions.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 229-237"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145866209","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
Gut microbiota signatures associated with ketogenic diet response in pediatric drug-resistant epilepsy 儿童耐药癫痫患者肠道菌群特征与生酮饮食反应相关。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-01 DOI: 10.1016/j.seizure.2025.12.012
Yao Wang , Jing Guo , Peiqi Zhang, Qing Zhou, Kai Peng, Zheng Xu, Xiaoli Dong, Jiaying Ye, Hua Li

Purpose

Emerging evidence suggests that gut microbiota may mediate the antiseizure effects of the ketogenic diet (KD) in drug-resistant epilepsy (DRE), yet predictive microbial biomarkers remain poorly characterized. This study aimed to investigate gut microbiota signatures associated with therapeutic response to KD in pediatric DRE patients.

Methods

In this prospective study conducted at Guangdong Sanjiu Brain Hospital, 42 children with DRE (age range: 2–10 years, 22 males and 20 females) received KD therapy. The primary endpoint was assessed at 3 months, with an extended follow-up to 6 months in eligible patients. Fecal samples were collected at baseline and at 1, 2, 3, and 6 months after KD initiation. 16S rRNA gene sequencing was performed to analyze gut microbiota composition. Therapeutic response was defined as ≥50% seizure frequency reduction at 3-month follow-up.

Results

The median age at epilepsy onset was 18.50 (8.25–41.50) months, and the median age at KD initiation was 53.50 (41.00–80.75) months. Among 34 patients completing the 3-month follow-up, 16 were responders. Responders showed significantly higher baseline abundances of Lachnoclostridium and Barnesiella. Following three months of KD therapy, responders demonstrated increased levels of Parabacteroides and Akkermansia relative to baseline, whereas these genera remained stable in non-responders. Non-responders exhibited consistently higher abundance of Catenibacterium both at baseline and throughout the intervention period compared to responders. Notably, after one month of KD, responders exhibited significantly elevated levels of Parabacteroides compared to non-responders.

Conclusion

Higher baseline abundances of Lachnoclostridium and Barnesiella were identified as potential predictive biomarkers for favorable KD response in pediatric DRE. The dynamic increases in Parabacteroides and Akkermansia during KD intervention further distinguished responders, whereas elevated Catenibacterium levels were associated with poor treatment outcomes, providing preliminary insights for treatment stratification.
目的:新出现的证据表明,肠道微生物群可能介导耐药癫痫(DRE)中生酮饮食(KD)的抗癫痫作用,但预测性微生物生物标志物的特征仍然很差。本研究旨在研究与儿科DRE患者对KD治疗反应相关的肠道微生物群特征。方法:本前瞻性研究在广东省三九脑科医院进行,42例DRE患儿(年龄2-10岁,男22例,女20例)接受KD治疗。主要终点在3个月时进行评估,并在符合条件的患者中延长随访至6个月。在基线和KD开始后1、2、3和6个月收集粪便样本。采用16S rRNA基因测序分析肠道菌群组成。治疗反应定义为3个月随访时癫痫发作频率降低≥50%。结果:癫痫发病年龄中位数为18.50(8.25 ~ 41.50)个月,KD发病年龄中位数为53.50(41.00 ~ 80.75)个月。在完成3个月随访的34例患者中,有16例有反应。应答者显示出明显更高的绒梭菌和巴奈氏菌的基线丰度。经过3个月的KD治疗后,应答者表现出相对于基线水平的副芽孢杆菌和Akkermansia水平升高,而这些属在无应答者中保持稳定。与应答者相比,无应答者在基线和整个干预期间均表现出一贯较高的Catenibacterium丰度。值得注意的是,在KD治疗一个月后,应答者与无应答者相比,显示出明显升高的副杆菌类水平。结论:高基线丰度的Lachnoclostridium和Barnesiella被确定为儿童DRE有利的KD反应的潜在预测生物标志物。在KD干预期间,Parabacteroides和Akkermansia的动态增加进一步区分了应答者,而Catenibacterium水平升高与不良治疗结果相关,为治疗分层提供了初步见解。
{"title":"Gut microbiota signatures associated with ketogenic diet response in pediatric drug-resistant epilepsy","authors":"Yao Wang ,&nbsp;Jing Guo ,&nbsp;Peiqi Zhang,&nbsp;Qing Zhou,&nbsp;Kai Peng,&nbsp;Zheng Xu,&nbsp;Xiaoli Dong,&nbsp;Jiaying Ye,&nbsp;Hua Li","doi":"10.1016/j.seizure.2025.12.012","DOIUrl":"10.1016/j.seizure.2025.12.012","url":null,"abstract":"<div><h3>Purpose</h3><div>Emerging evidence suggests that gut microbiota may mediate the antiseizure effects of the ketogenic diet (KD) in drug-resistant epilepsy (DRE), yet predictive microbial biomarkers remain poorly characterized. This study aimed to investigate gut microbiota signatures associated with therapeutic response to KD in pediatric DRE patients.</div></div><div><h3>Methods</h3><div>In this prospective study conducted at Guangdong Sanjiu Brain Hospital, 42 children with DRE (age range: 2–10 years, 22 males and 20 females) received KD therapy. The primary endpoint was assessed at 3 months, with an extended follow-up to 6 months in eligible patients. Fecal samples were collected at baseline and at 1, 2, 3, and 6 months after KD initiation. 16S rRNA gene sequencing was performed to analyze gut microbiota composition. Therapeutic response was defined as ≥50% seizure frequency reduction at 3-month follow-up.</div></div><div><h3>Results</h3><div>The median age at epilepsy onset was 18.50 (8.25–41.50) months, and the median age at KD initiation was 53.50 (41.00–80.75) months. Among 34 patients completing the 3-month follow-up, 16 were responders. Responders showed significantly higher baseline abundances of <em>Lachnoclostridium</em> and <em>Barnesiella</em>. Following three months of KD therapy, responders demonstrated increased levels of <em>Parabacteroides</em> and <em>Akkermansia</em> relative to baseline, whereas these genera remained stable in non-responders. Non-responders exhibited consistently higher abundance of <em>Catenibacterium</em> both at baseline and throughout the intervention period compared to responders. Notably, after one month of KD, responders exhibited significantly elevated levels of <em>Parabacteroides</em> compared to non-responders.</div></div><div><h3>Conclusion</h3><div>Higher baseline abundances of <em>Lachnoclostridium</em> and <em>Barnesiella</em> were identified as potential predictive biomarkers for favorable KD response in pediatric DRE. The dynamic increases in <em>Parabacteroides</em> and <em>Akkermansia</em> during KD intervention further distinguished responders, whereas elevated <em>Catenibacterium</em> levels were associated with poor treatment outcomes, providing preliminary insights for treatment stratification.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 220-228"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145866191","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
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 Pub Date : 2025-12-21 DOI: 10.1016/j.seizure.2025.12.011
Sara Bellido-Cuéllar, Rosa Ana Saiz-Díaz, Jesús González de la Aleja
{"title":"Absence seizures with ictal yawning in Rubinstein-Taybi syndrome","authors":"Sara Bellido-Cuéllar,&nbsp;Rosa Ana Saiz-Díaz,&nbsp;Jesús González de la Aleja","doi":"10.1016/j.seizure.2025.12.011","DOIUrl":"10.1016/j.seizure.2025.12.011","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 1-3"},"PeriodicalIF":2.8,"publicationDate":"2025-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145891210","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
The correlation between tuber burden and epilepsy onset in children with tuberous sclerosis complex 结节性硬化症患儿的结节负荷与癫痫发作的关系
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-18 DOI: 10.1016/j.seizure.2025.12.010
Zhanqi Hu , Xinyuan Chen , Ping Song , Xia Zhao , Ling Lin , Lingyu Kong , Benqing Wu , Tian Yu , Ying Qi , Isah Salim Ahmad , Tong Mo , Haifeng Wang , Jianxiang Liao , Cailei Zhao , Rongbo Lin

Background & Objective

: Early-onset epilepsy in Tuberous Sclerosis Complex (TSC) is a major risk factor for neurodevelopmental impairment and drug resistance. This study aims to identify key neuroimaging biomarkers, including tuber brain proportion (TBP) and tuber type, that predict early seizure onset and response to anti-seizure medications (ASMs).

Methods

: In this retrospective study of 306 pediatric TSC patients, we analyzed clinical data and magnetic resonance imaging (MRI). Cortical tubers were classified into four imaging-based subtypes. We performed quantitative volumetric and TBP analyses and used univariate and multivariate regression to identify risk factors for early-onset epilepsy (<12 months) and poor ASM outcome (defined as persistent seizures at one year).

Results

The cohort had a median seizure onset age of 10 months (IQR: 4–25), with 57.8% (n = 177) classified as early-onset. A majority (66.7%, n = 204) had a poor ASM response. Key imaging features, including higher total TBP, type II/III TBP, and frontal/temporal/parietal lobar TBP, were significantly associated with early onset (all p < 0.05). Multivariate analysis confirmed type II lesion TBP (OR: 2.63, 95% CI: 1.15–6.01), cortical calcification burden (OR: 2.01, 95% CI: 1.24–3.24), and subependymal nodule (SEN) count (OR: 1.15, 95% CI: 1.06–1.25) as independent predictors of early-onset epilepsy. Furthermore, type II lesion volume (p < 0.001) and TBP (p < 0.001) were significant predictors of poor ASM response.

Conclusion

: Type II tuber burden, cortical calcification, and SEN count are independent neuroimaging predictors of early-onset epilepsy in TSC. The volume and proportion of type II tubers are also critically associated with antiseizure medication resistance, highlighting their clinical utility for prognosis and guiding early intervention strategies.
背景与目的:结节性硬化症(TSC)早发性癫痫是神经发育障碍和耐药的主要危险因素。本研究旨在确定关键的神经成像生物标志物,包括块茎脑比例(TBP)和块茎类型,预测早期癫痫发作和抗癫痫药物(ASMs)的反应。方法:回顾性分析306例小儿TSC患者的临床资料和磁共振成像(MRI)。皮质块茎可分为四种影像学亚型。我们进行了定量容量和TBP分析,并使用单变量和多变量回归来确定早发性癫痫(12个月)和不良ASM结果(定义为持续发作1年)的危险因素。结果本组患者癫痫发作的中位年龄为10个月(IQR: 4-25),早发性患者占57.8% (n = 177)。大多数患者(66.7%,n = 204)的ASM反应较差。关键影像学特征,包括较高的总TBP、II/III型TBP和额叶/颞叶/顶叶TBP,与早期发病显著相关(均p <; 0.05)。多因素分析证实II型病变TBP (OR: 2.63, 95% CI: 1.15 - 6.01)、皮质钙化负荷(OR: 2.01, 95% CI: 1.24-3.24)和室管膜下结节(SEN)计数(OR: 1.15, 95% CI: 1.06-1.25)是早发性癫痫的独立预测因子。此外,II型病变体积(p < 0.001)和TBP (p < 0.001)是不良ASM反应的重要预测因子。结论:II型结节负荷、皮质钙化和SEN计数是TSC早发性癫痫的独立神经影像学预测指标。II型结节的体积和比例也与抗癫痫药物耐药性密切相关,突出了它们在预后和指导早期干预策略方面的临床应用。
{"title":"The correlation between tuber burden and epilepsy onset in children with tuberous sclerosis complex","authors":"Zhanqi Hu ,&nbsp;Xinyuan Chen ,&nbsp;Ping Song ,&nbsp;Xia Zhao ,&nbsp;Ling Lin ,&nbsp;Lingyu Kong ,&nbsp;Benqing Wu ,&nbsp;Tian Yu ,&nbsp;Ying Qi ,&nbsp;Isah Salim Ahmad ,&nbsp;Tong Mo ,&nbsp;Haifeng Wang ,&nbsp;Jianxiang Liao ,&nbsp;Cailei Zhao ,&nbsp;Rongbo Lin","doi":"10.1016/j.seizure.2025.12.010","DOIUrl":"10.1016/j.seizure.2025.12.010","url":null,"abstract":"<div><h3>Background &amp; Objective</h3><div><strong>:</strong> Early-onset epilepsy in Tuberous Sclerosis Complex (TSC) is a major risk factor for neurodevelopmental impairment and drug resistance. This study aims to identify key neuroimaging biomarkers, including tuber brain proportion (TBP) and tuber type, that predict early seizure onset and response to anti-seizure medications (ASMs).</div></div><div><h3>Methods</h3><div><strong>:</strong> In this retrospective study of 306 pediatric TSC patients, we analyzed clinical data and magnetic resonance imaging (MRI). Cortical tubers were classified into four imaging-based subtypes. We performed quantitative volumetric and TBP analyses and used univariate and multivariate regression to identify risk factors for early-onset epilepsy (&lt;12 months) and poor ASM outcome (defined as persistent seizures at one year).</div></div><div><h3>Results</h3><div>The cohort had a median seizure onset age of 10 months (IQR: 4–25), with 57.8% (<em>n</em> = 177) classified as early-onset. A majority (66.7%, <em>n</em> = 204) had a poor ASM response. Key imaging features, including higher total TBP, type II/III TBP, and frontal/temporal/parietal lobar TBP, were significantly associated with early onset (all <em>p</em> &lt; 0.05). Multivariate analysis confirmed type II lesion TBP (OR: 2.63, 95% CI: 1.15–6.01), cortical calcification burden (OR: 2.01, 95% CI: 1.24–3.24), and subependymal nodule (SEN) count (OR: 1.15, 95% CI: 1.06–1.25) as independent predictors of early-onset epilepsy. Furthermore, type II lesion volume (<em>p</em> &lt; 0.001) and TBP (<em>p</em> &lt; 0.001) were significant predictors of poor ASM response.</div></div><div><h3>Conclusion</h3><div><strong>:</strong> Type II tuber burden, cortical calcification, and SEN count are independent neuroimaging predictors of early-onset epilepsy in TSC. The volume and proportion of type II tubers are also critically associated with antiseizure medication resistance, highlighting their clinical utility for prognosis and guiding early intervention strategies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 211-219"},"PeriodicalIF":2.8,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145839216","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
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 Pub 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 ,&nbsp;Carlo Di Bonaventura ,&nbsp;Giuliana Lentini ,&nbsp;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":"2025-12-16","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
Sex differences in the clinical characteristics of South African patients with functional seizures in a public and a private hospital 南非公立和私立医院功能性癫痫患者临床特征的性别差异
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-14 DOI: 10.1016/j.seizure.2025.12.007
Gabriele Vilyte , James Butler , Victoria Ives-Deliperi , Chrisma Pretorius

Introduction

Functional seizures (FS) are approximately three times more common in females than in males. However, the factors associated with this gender imbalance are not well understood.

Methods

This retrospective chart review study included 372 patients with FS (305 from a private and 67 from a public hospital) confirmed through video-electroencephalography (video-EEG) and without comorbid epilepsy. We collected data on psychological trauma, stressors, comorbidities, medical procedure history, medication use, and seizure semiology to identify clinical factors associated with female sex in this patient cohort. The study was conducted in a private and a public hospital epilepsy monitoring units (EMUs) based in Cape Town, South Africa.

Results

In the private hospital, female patients with FS had higher odds of reporting a history of sexual abuse (aOR = 9.58, 95 % CI [1.28, 72.02]) and lower odds of loss of consciousness during a seizure (aOR = 0.46, 95 % CI [0.23, 0.91]) compared to male patients. Female public hospital patients had higher odds of reporting a history of any psychological trauma/stressor (aOR = 3.64, 95 % CI [1.11, 11.88]), side-to-side head movements during seizures (aOR = 6.37, 95 % CI [1.16, 34.98]) and lower odds of reporting a history of at least one failed ASM trial (aOR = 0.27, 95 % CI [0.08, 0.88]).

Conclusion

This study, the first of its kind in South Africa, found that while male and female patients with FS shared broadly similar clinical profiles, differences in trauma exposure, antiseizure medication history, and semiology varied by sex and socioeconomic context. These findings underscore the importance of heightened clinical awareness regarding the influence of sex and social determinants on symptom presentation and diagnostic interpretation, thereby reducing diagnostic delays and ensuring more equitable FS management.
简介:功能性癫痫发作(FS)在女性中大约是男性的三倍。然而,与这种性别不平衡有关的因素还没有得到很好的理解。方法:本回顾性研究纳入372例经视频脑电图(video-EEG)确诊且无癫痫共病的FS患者(305例来自私立医院,67例来自公立医院)。我们收集了心理创伤、压力源、合并症、医疗程序史、药物使用和癫痫符号学方面的数据,以确定该患者队列中与女性相关的临床因素。这项研究是在南非开普敦的一家私立和一家公立医院癫痫监测单位(emu)进行的。结果:在私立医院,女性FS患者报告性侵犯史的几率高于男性患者(aOR = 9.58, 95% CI[1.28, 72.02]),发作时意识丧失的几率低于男性患者(aOR = 0.46, 95% CI[0.23, 0.91])。公立医院女性患者报告有任何心理创伤/压力源史的几率较高(aOR = 3.64, 95% CI[1.11, 11.88]),癫痫发作时左右头部运动的几率较高(aOR = 6.37, 95% CI[1.16, 34.98]),报告至少一次ASM试验失败史的几率较低(aOR = 0.27, 95% CI[0.08, 0.88])。结论:这项在南非首次进行的研究发现,虽然男性和女性FS患者的临床概况大致相似,但在创伤暴露、抗癫痫药物史和符号学方面的差异因性别和社会经济背景而异。这些发现强调了提高临床意识的重要性,即性别和社会决定因素对症状表现和诊断解释的影响,从而减少诊断延误并确保更公平的FS管理。
{"title":"Sex differences in the clinical characteristics of South African patients with functional seizures in a public and a private hospital","authors":"Gabriele Vilyte ,&nbsp;James Butler ,&nbsp;Victoria Ives-Deliperi ,&nbsp;Chrisma Pretorius","doi":"10.1016/j.seizure.2025.12.007","DOIUrl":"10.1016/j.seizure.2025.12.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Functional seizures (FS) are approximately three times more common in females than in males. However, the factors associated with this gender imbalance are not well understood.</div></div><div><h3>Methods</h3><div>This retrospective chart review study included 372 patients with FS (305 from a private and 67 from a public hospital) confirmed through video-electroencephalography (video-EEG) and without comorbid epilepsy. We collected data on psychological trauma, stressors, comorbidities, medical procedure history, medication use, and seizure semiology to identify clinical factors associated with female sex in this patient cohort. The study was conducted in a private and a public hospital epilepsy monitoring units (EMUs) based in Cape Town, South Africa.</div></div><div><h3>Results</h3><div>In the private hospital, female patients with FS had higher odds of reporting a history of sexual abuse (aOR = 9.58, 95 % CI [1.28, 72.02]) and lower odds of loss of consciousness during a seizure (aOR = 0.46, 95 % CI [0.23, 0.91]) compared to male patients. Female public hospital patients had higher odds of reporting a history of any psychological trauma/stressor (aOR = 3.64, 95 % CI [1.11, 11.88]), side-to-side head movements during seizures (aOR = 6.37, 95 % CI [1.16, 34.98]) and lower odds of reporting a history of at least one failed ASM trial (aOR = 0.27, 95 % CI [0.08, 0.88]).</div></div><div><h3>Conclusion</h3><div>This study, the first of its kind in South Africa, found that while male and female patients with FS shared broadly similar clinical profiles, differences in trauma exposure, antiseizure medication history, and semiology varied by sex and socioeconomic context. These findings underscore the importance of heightened clinical awareness regarding the influence of sex and social determinants on symptom presentation and diagnostic interpretation, thereby reducing diagnostic delays and ensuring more equitable FS management.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 204-210"},"PeriodicalIF":2.8,"publicationDate":"2025-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145821721","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
The phenotype and genotype of KCNMA1 - related disorders in China 中国KCNMA1相关疾病的表型和基因型。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-11 DOI: 10.1016/j.seizure.2025.12.006
Qiuhong Wang , Xiaojuan Tian , Jie Deng, Xiaohui Wang, Lifang Dai, Changhong Ding

Objective

The KCNMA1 gene encodes the BK K⁺ channel, which modulates neuronal and muscular excitability. Variants in this gene are associated with heterogeneous or overlapping clinical features, including movement disorders, epilepsy, and developmental delays. This study aimed to analyze the genotype-phenotype correlations of KCNMA1-related disorders in China.

Methods

Clinical and genetic datas were collected from patients diagnosed with KCNMA1-related disoreders at Beijing Children’s Hospital between January 2017 and December 2024. Literature reviews were conducted using the China National Knowledge Infrastructure (CNKI) and Wanfang databases with "KCNMA1″ as the keyword (from database establishment to December 2024) to summarize reported Chinese cases. Data on clinical phenotypes, genetic variant types, imaging findings, and prognosis were analyzed.

Results

Twenty-seven patients (20 males, 7 females) with KCNMA1 variants were included. Six presented with epilepsy and paroxysmal movement disorders, 6 with movement disorders alone, and 12 with epilepsy alone. Movement disorder types included paroxysmal nonkinesigenic dyskinesia (PNKD), ataxia, and episodic limb weakness. Seizure types encompassed generalized tonic-clonic, tonic, epileptic spasms, absence, focal, myoclonic, and atonic seizures. Twenty-six patients exhibited developmental delays, including 3 with delays alone (no seizures or movement disorders). A total of 25 distinct variants were identified, including 19 missense, 2 frameshift, 2 splice-site, 1 nonsense, and 1 deletion variant, of which 16 were novel. About genotype-phenotype correlations, among the 12 epilepsy-only cases, 8 (66.7%, 8/12) had variants located in transmembrane domains (S0–S6). Of the 12 cases with movement disorders (with or without epilepsy; 10 variants), 8 (80%, 8/10) had variants in intracellular domains, predominantly the RCK-2 region.

Conclusions

This study summarized the primary clinical features of KCNMA1 variants, including movement disorders, epilepsy, and developmental delays. Additionally, 16 novel variants were reported. Genotype-phenotype correlations analysis suggested that variants in transmembrane domains are more likely to cause epilepsy, while those in intracellular domains, especially RCK-2, are primarily associated with movement disorders, with or without epilepsy. However, further studies with larger sample sizes are needed for validation.
目的:KCNMA1基因编码BK +通道,该通道调节神经元和肌肉的兴奋性。该基因的变异与异质或重叠的临床特征有关,包括运动障碍、癫痫和发育迟缓。本研究旨在分析中国kcnma1相关疾病的基因型-表型相关性。方法:收集2017年1月至2024年12月在北京儿童医院诊断为kcnma1相关疾病的患者的临床和遗传数据。利用中国知网(CNKI)和万方数据库,以“KCNMA1″”为关键词(数据库建立至2024年12月)进行文献综述,总结中国已报道病例。分析了临床表型、遗传变异类型、影像学表现和预后的数据。结果:共纳入27例KCNMA1变异患者(男性20例,女性7例)。6例伴有癫痫和阵发性运动障碍,6例单独伴有运动障碍,12例单独伴有癫痫。运动障碍类型包括阵发性非运动源性运动障碍(PNKD)、共济失调和发作性肢体无力。发作类型包括全身性强直-阵挛、强直性、癫痫性痉挛、缺席、局灶性、肌阵挛性和无张力性发作。26例患者表现为发育迟缓,其中3例仅表现为发育迟缓(无癫痫发作或运动障碍)。共鉴定出25个不同的变异,包括19个错义变异、2个移码变异、2个剪接位点变异、1个无义变异和1个缺失变异,其中16个为新变异。关于基因型-表型相关性,在12例癫痫患者中,8例(66.7%,8/12)的变异位于跨膜结构域(S0-S6)。在12例运动障碍患者(伴有或不伴有癫痫;10例变异)中,8例(80%,8/10)在细胞内结构域发生变异,主要是RCK-2区域。结论:本研究总结了KCNMA1变异的主要临床特征,包括运动障碍、癫痫和发育迟缓。此外,还报道了16种新的变异。基因型-表型相关分析表明,跨膜结构域的变异更可能导致癫痫,而细胞内结构域的变异,尤其是RCK-2,主要与运动障碍相关,伴或不伴癫痫。然而,需要更大样本量的进一步研究来验证。
{"title":"The phenotype and genotype of KCNMA1 - related disorders in China","authors":"Qiuhong Wang ,&nbsp;Xiaojuan Tian ,&nbsp;Jie Deng,&nbsp;Xiaohui Wang,&nbsp;Lifang Dai,&nbsp;Changhong Ding","doi":"10.1016/j.seizure.2025.12.006","DOIUrl":"10.1016/j.seizure.2025.12.006","url":null,"abstract":"<div><h3>Objective</h3><div>The <em>KCNMA1</em> gene encodes the BK K⁺ channel, which modulates neuronal and muscular excitability. Variants in this gene are associated with heterogeneous or overlapping clinical features, including movement disorders, epilepsy, and developmental delays. This study aimed to analyze the genotype-phenotype correlations of <em>KCNMA1</em>-related disorders in China.</div></div><div><h3>Methods</h3><div>Clinical and genetic datas were collected from patients diagnosed with <em>KCNMA1</em>-related disoreders at Beijing Children’s Hospital between January 2017 and December 2024. Literature reviews were conducted using the China National Knowledge Infrastructure (CNKI) and Wanfang databases with \"KCNMA1″ as the keyword (from database establishment to December 2024) to summarize reported Chinese cases. Data on clinical phenotypes, genetic variant types, imaging findings, and prognosis were analyzed.</div></div><div><h3>Results</h3><div>Twenty-seven patients (20 males, 7 females) with <em>KCNMA1</em> variants were included. Six presented with epilepsy and paroxysmal movement disorders, 6 with movement disorders alone, and 12 with epilepsy alone. Movement disorder types included paroxysmal nonkinesigenic dyskinesia (PNKD), ataxia, and episodic limb weakness. Seizure types encompassed generalized tonic-clonic, tonic, epileptic spasms, absence, focal, myoclonic, and atonic seizures. Twenty-six patients exhibited developmental delays, including 3 with delays alone (no seizures or movement disorders). A total of 25 distinct variants were identified, including 19 missense, 2 frameshift, 2 splice-site, 1 nonsense, and 1 deletion variant, of which 16 were novel. About genotype-phenotype correlations, among the 12 epilepsy-only cases, 8 (66.7%, 8/12) had variants located in transmembrane domains (S0–S6). Of the 12 cases with movement disorders (with or without epilepsy; 10 variants), 8 (80%, 8/10) had variants in intracellular domains, predominantly the RCK-2 region.</div></div><div><h3>Conclusions</h3><div>This study summarized the primary clinical features of <em>KCNMA1</em> variants, including movement disorders, epilepsy, and developmental delays. Additionally, 16 novel variants were reported. Genotype-phenotype correlations analysis suggested that variants in transmembrane domains are more likely to cause epilepsy, while those in intracellular domains, especially RCK-2, are primarily associated with movement disorders, with or without epilepsy. However, further studies with larger sample sizes are needed for validation.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 173-179"},"PeriodicalIF":2.8,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145758185","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
Nutritional status and functional gastrointestinal disorders in pediatric patients with drug-resistant epilepsy: Impact of vagus nerve stimulation 小儿耐药癫痫患者的营养状况和胃肠功能紊乱:迷走神经刺激的影响
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-10 DOI: 10.1016/j.seizure.2025.12.005
Ayse Akcay , Zeynep Ozturk , Alev Elci Karaduman , Esra Serdaroglu , Ebru Arhan , Ercan Demir , Tugba Hirfanoglu

Purpose

To evaluate the nutritional status and functional gastrointestinal disorders (FGIDs) in children with drug-resistant epilepsy (DRE) and determine whether vagus nerve stimulation (VNS) influences gastrointestinal outcomes.

Methods

This cross-sectional study included 98 pediatric patients with DRE (30 with VNS and 68 without). Anthropometric status was assessed using LMS-derived Z-scores, and FGIDs were diagnosed according to the Rome IV criteria. Logistic regression and ROC analyses were used to investigate the relationship between antiseizure medication (ASM) burden and constipation.

Results

Each additional ASM increased the odds of constipation by 1.63 (95 % CI: 1.08–2.47; p = 0.021). A cutoff of ≥3 ASMs demonstrated a moderate predictive value for constipation (AUC 0.63). Earlier epilepsy onset was significantly associated with lower weight, height, and BMI Z-scores (all p < 0.05). Despite the higher ASM burden, children treated with VNS did not exhibit an increased frequency of gastrointestinal adverse effects.

Conclusion

ASM polytherapy is a measurable risk factor for constipation in pediatric DRE, and early epilepsy onset is associated with impaired growth. The absence of increased gastrointestinal symptoms among VNS recipients, despite a higher medication load, suggests a potential modulatory role of vagal neuromodulation. These findings highlight the need for routine nutritional surveillance and structured gastrointestinal assessments and support future longitudinal studies incorporating objective GI measures and biomarker-based evaluations.
目的评价耐药癫痫(DRE)患儿的营养状况和胃肠功能紊乱(fgid),探讨迷走神经刺激(VNS)是否影响胃肠道预后。方法本横断面研究纳入98例DRE患儿(30例伴有VNS, 68例无VNS)。使用lms衍生的z分数评估人体测量状态,并根据Rome IV标准诊断fgid。采用Logistic回归和ROC分析探讨抗癫痫药物负担与便秘的关系。结果每增加1次ASM,便秘发生率增加1.63例(95% CI: 1.08 ~ 2.47; p = 0.021)。≥3 asm的临界值显示便秘的中等预测价值(AUC 0.63)。早期癫痫发作与较低的体重、身高和BMI z评分显著相关(均p <; 0.05)。尽管有较高的ASM负担,但接受VNS治疗的儿童并未表现出胃肠道不良反应的频率增加。结论asm综合治疗是儿童DRE便秘的可测量危险因素,早期癫痫发作与生长障碍有关。在VNS受者中,尽管药物负荷较高,但胃肠道症状没有增加,提示迷走神经调节的潜在调节作用。这些发现强调了常规营养监测和结构化胃肠道评估的必要性,并支持未来纳入客观GI测量和基于生物标志物的评估的纵向研究。
{"title":"Nutritional status and functional gastrointestinal disorders in pediatric patients with drug-resistant epilepsy: Impact of vagus nerve stimulation","authors":"Ayse Akcay ,&nbsp;Zeynep Ozturk ,&nbsp;Alev Elci Karaduman ,&nbsp;Esra Serdaroglu ,&nbsp;Ebru Arhan ,&nbsp;Ercan Demir ,&nbsp;Tugba Hirfanoglu","doi":"10.1016/j.seizure.2025.12.005","DOIUrl":"10.1016/j.seizure.2025.12.005","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the nutritional status and functional gastrointestinal disorders (FGIDs) in children with drug-resistant epilepsy (DRE) and determine whether vagus nerve stimulation (VNS) influences gastrointestinal outcomes.</div></div><div><h3>Methods</h3><div>This cross-sectional study included 98 pediatric patients with DRE (30 with VNS and 68 without). Anthropometric status was assessed using LMS-derived Z-scores, and FGIDs were diagnosed according to the Rome IV criteria. Logistic regression and ROC analyses were used to investigate the relationship between antiseizure medication (ASM) burden and constipation.</div></div><div><h3>Results</h3><div>Each additional ASM increased the odds of constipation by 1.63 (95 % CI: 1.08–2.47; <em>p</em> = 0.021). A cutoff of ≥3 ASMs demonstrated a moderate predictive value for constipation (AUC 0.63). Earlier epilepsy onset was significantly associated with lower weight, height, and BMI Z-scores (all <em>p</em> &lt; 0.05). Despite the higher ASM burden, children treated with VNS did not exhibit an increased frequency of gastrointestinal adverse effects.</div></div><div><h3>Conclusion</h3><div>ASM polytherapy is a measurable risk factor for constipation in pediatric DRE, and early epilepsy onset is associated with impaired growth. The absence of increased gastrointestinal symptoms among VNS recipients, despite a higher medication load, suggests a potential modulatory role of vagal neuromodulation. These findings highlight the need for routine nutritional surveillance and structured gastrointestinal assessments and support future longitudinal studies incorporating objective GI measures and biomarker-based evaluations.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"134 ","pages":"Pages 198-203"},"PeriodicalIF":2.8,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145796921","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
期刊
Seizure-European Journal of Epilepsy
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1