首页 > 最新文献

Epileptic Disorders最新文献

英文 中文
Identifying the infraslow activity associated with faciobrachial dystonic seizures in EEG. 从脑电图中识别与面肌强直性痉挛发作相关的下行活动。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-09 DOI: 10.1002/epd2.20296
Richard Wennberg, Julien Hébert, David Tang-Wai
{"title":"Identifying the infraslow activity associated with faciobrachial dystonic seizures in EEG.","authors":"Richard Wennberg, Julien Hébert, David Tang-Wai","doi":"10.1002/epd2.20296","DOIUrl":"https://doi.org/10.1002/epd2.20296","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Ictal asystole and increased ictal heart rate variability in PCDH19-related epilepsy 与 PCDH19 相关的癫痫的发作期心搏骤停和发作期心率变异性增加。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-09 DOI: 10.1002/epd2.20281
Audrey Nguyen, Ralf Eberhard, Elisabeth Simard-Tremblay, Kenneth A. Myers
<p> <i>PCDH19</i> (OMIM 300460) pathogenic variants are associated with a range of neurodevelopmental abnormalities and epilepsy.<span><sup>1, 2</sup></span> This X-linked condition has been referred to as “girls clustering epilepsy,” with the classical phenotype involving infantile onset of recurrent seizure clusters, sometimes lasting several days, in the context of febrile illnesses.<span><sup>3-5</sup></span> Seizure semiology is focal in the vast majority, with motor onset described in 85%. Non-motor onset seizures are reported in 59%, with features including behavioral arrest, loss of tone, hypopnea, cyanosis, and desaturation. We describe a girl with PCDH19-related epilepsy who had ictal bradycardia and asystole and report the results of an analysis of peri-ictal heart rate variability (HRV).</p><p>At 9 months of age, the proband presented with recurrent focal seizures in the context of a febrile viral illness. While on continuous video EEG monitoring, 27 seizures were recorded over a 49-hour period, 3 focal and 24 focal-to-bilateral. The clinical manifestations usually began after the electrographic onset, and typically involved bilateral arm stiffening and unresponsiveness (Video 1). Based on scalp EEG, 12 seizures had left occipital-temporal onset and 10 right parietal-occipital onset; the region of onset was unclear in three cases. Bradycardia occurred with almost all seizures and ictal asystole (defined as ≥3-second pause between heartbeats) in three instances, lasting as long as 11 s. Seizure duration ranged from 59 to 251 s.</p><p>Her past medical history was significant for being a triplet pregnancy and born extremely premature, at 23 weeks, 6 days gestation. She had sequelae of prematurity, including bronchopulmonary dysplasia, retinopathy of prematurity, and metabolic bone disease. An echocardiogram done early in life showed an atrial septal defect (ASD) and ventricular septal defect (VSD). On family history, her mother had autism and was reported to have “generalized epilepsy,” which had started with febrile seizures at age 10 months; she was still on antiseizure medication, lacosamide and clobazam. The patient's father also had autism, as did two paternal half-brothers.</p><p>The patient's brain MRI showed periventricular leukomalacia. Genetic testing revealed a maternally-inherited <i>PCDH19</i> pathogenic variant (NM_001184880.2, c.1201_1202dup, p.(Ser401Argfs*169)).</p><p>The proband is now 21 months old and has had 5 more admissions with seizure clusters over the past 12 months; however, ictal bradycardia/asystole has not again been reported. She is currently taking topiramate, carbamazepine, clobazam, and levetiracetam. From a developmental perspective, she can pull to stand and walk one or two steps with support. She babbles and says “dada” and “mama.” There has been no regression.</p><p>Using the ECG derivation from the scalp EEG recording, we extracted interbeat intervals during all seizures, as well as for
PCDH19 (OMIM 300460)致病变异与一系列神经发育异常和癫痫有关。这种x连锁疾病被称为“女孩聚集性癫痫”,其典型表型包括婴儿发作的复发性癫痫聚集性,有时持续数天,在发热性疾病的背景下。3-5绝大多数为局灶性发作,85%为运动性发作。59%的患者报告非运动性癫痫发作,其特征包括行为停止、张力丧失、低通气、发绀和去饱和。我们描述了一名患有pcdh19相关癫痫的女孩,她有急性心动过缓和心脏骤停,并报告了一项分析周心率变异性(HRV)的结果。在9个月大时,先证者在发热性病毒性疾病的背景下出现反复的局灶性癫痫发作。在连续视频脑电图监测中,在49小时内记录了27次癫痫发作,3次是局灶性的,24次是双侧的。临床表现通常在电图发作后开始,典型表现为双侧手臂僵硬和无反应(视频1)。根据头皮脑电图,12次癫痫发作为左枕颞起病,10次为右顶叶枕起病;3例发病区域不明。几乎所有的癫痫发作都伴有心动过缓,有3例发作期无搏停(定义为心跳间隔≥3秒),持续时间长达11秒。癫痫发作持续时间从59秒到251秒不等。她的既往病史表明她是三胞胎妊娠,出生时极度早产,妊娠23周6天。她有早产儿后遗症,包括支气管肺发育不良、早产儿视网膜病变和代谢性骨病。早期超声心动图显示房间隔缺损(ASD)和室间隔缺损(VSD)。在家族史上,她的母亲患有自闭症,据报道患有“全身性癫痫”,从10个月大时开始出现发热性癫痫发作;她仍在服用抗癫痫药物、拉科沙胺和氯巴唑仑。病人的父亲和两个同父异母的兄弟也患有自闭症。患者的脑部MRI显示脑室周围白质软化。基因检测发现PCDH19的遗传变异(NM_001184880.2, c.1201_1202dup, p.(Ser401Argfs*169))。先证者现在21个月大,在过去的12个月里有5次癫痫发作入院;然而,急性心动过缓/心脏骤停尚未再次报道。目前正在服用托吡酯、卡马西平、氯巴赞和左乙拉西坦。从发展的角度来看,她可以拉着自己站起来,在支撑下走一两步。她咿呀学语地说着“爸爸”和“妈妈”。没有出现倒退。利用头皮脑电图记录的心电图推导,我们提取了所有癫痫发作期间的心跳间隔,以及癫痫发作前的600次心跳。我们根据每次癫痫发作前后每4次跳动的移动平均值绘制心率(图S1)。在癫痫发作后的前200次心跳中,心率明显下降。我们还计算了连续差异的均方根(RMSSD),这是一种基于时间的HRV测量方法,并将其绘制为每51次跳动的移动平均值(图1)。在癫痫发作后的前200次跳动中,RMSSD显着增加。该女性患者与pcdh19相关的癫痫表现为典型的聚集性癫痫发作在发热性疾病的背景下;然而,她在其中一次发作中出现了以前未报道的严重心动过缓和心脏骤停的关键特征,并伴有HRV升高。这些发现增加了在pcdh19相关癫痫发作期间可能看到的自主神经异常。人们可能会假设,这种模式表明癫痫猝死(SUDEP)的风险增加,特别是考虑到Dravet综合征(一种癫痫性脑病,最初也出现在婴儿期,伴有发热性疾病的癫痫发作)的SUDEP风险显著升高然而,虽然已经讨论过骤停作为SUDEP的危险因素,但其相关性尚不清楚。事实上,由于随后的大脑缺氧和缺血可能有助于癫痫发作的终止,因此已经提出了急性无搏停止具有保护作用基于有限的现有证据,我们建议此类患者应转介心脏病学咨询,尽管尚不清楚如果排除原发性心功能障碍是否需要任何干预措施。否则,管理人员应将重点放在优化癫痫发作控制上。本研究由quacimac - santacima基金会资助。Nguyen、R. Eberhard和E. Simard-Tremblay报告没有披露与手稿相关的信息。K.A. Myers是Ultragenyx和LivaNova赞助的研究的现场首席研究员,也是Jazz制药公司的咨询委员会成员。 患者的母亲同意本报告中包含的视频的发布。
{"title":"Ictal asystole and increased ictal heart rate variability in PCDH19-related epilepsy","authors":"Audrey Nguyen,&nbsp;Ralf Eberhard,&nbsp;Elisabeth Simard-Tremblay,&nbsp;Kenneth A. Myers","doi":"10.1002/epd2.20281","DOIUrl":"10.1002/epd2.20281","url":null,"abstract":"&lt;p&gt;\u0000 &lt;i&gt;PCDH19&lt;/i&gt; (OMIM 300460) pathogenic variants are associated with a range of neurodevelopmental abnormalities and epilepsy.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; This X-linked condition has been referred to as “girls clustering epilepsy,” with the classical phenotype involving infantile onset of recurrent seizure clusters, sometimes lasting several days, in the context of febrile illnesses.&lt;span&gt;&lt;sup&gt;3-5&lt;/sup&gt;&lt;/span&gt; Seizure semiology is focal in the vast majority, with motor onset described in 85%. Non-motor onset seizures are reported in 59%, with features including behavioral arrest, loss of tone, hypopnea, cyanosis, and desaturation. We describe a girl with PCDH19-related epilepsy who had ictal bradycardia and asystole and report the results of an analysis of peri-ictal heart rate variability (HRV).&lt;/p&gt;&lt;p&gt;At 9 months of age, the proband presented with recurrent focal seizures in the context of a febrile viral illness. While on continuous video EEG monitoring, 27 seizures were recorded over a 49-hour period, 3 focal and 24 focal-to-bilateral. The clinical manifestations usually began after the electrographic onset, and typically involved bilateral arm stiffening and unresponsiveness (Video 1). Based on scalp EEG, 12 seizures had left occipital-temporal onset and 10 right parietal-occipital onset; the region of onset was unclear in three cases. Bradycardia occurred with almost all seizures and ictal asystole (defined as ≥3-second pause between heartbeats) in three instances, lasting as long as 11 s. Seizure duration ranged from 59 to 251 s.&lt;/p&gt;&lt;p&gt;Her past medical history was significant for being a triplet pregnancy and born extremely premature, at 23 weeks, 6 days gestation. She had sequelae of prematurity, including bronchopulmonary dysplasia, retinopathy of prematurity, and metabolic bone disease. An echocardiogram done early in life showed an atrial septal defect (ASD) and ventricular septal defect (VSD). On family history, her mother had autism and was reported to have “generalized epilepsy,” which had started with febrile seizures at age 10 months; she was still on antiseizure medication, lacosamide and clobazam. The patient's father also had autism, as did two paternal half-brothers.&lt;/p&gt;&lt;p&gt;The patient's brain MRI showed periventricular leukomalacia. Genetic testing revealed a maternally-inherited &lt;i&gt;PCDH19&lt;/i&gt; pathogenic variant (NM_001184880.2, c.1201_1202dup, p.(Ser401Argfs*169)).&lt;/p&gt;&lt;p&gt;The proband is now 21 months old and has had 5 more admissions with seizure clusters over the past 12 months; however, ictal bradycardia/asystole has not again been reported. She is currently taking topiramate, carbamazepine, clobazam, and levetiracetam. From a developmental perspective, she can pull to stand and walk one or two steps with support. She babbles and says “dada” and “mama.” There has been no regression.&lt;/p&gt;&lt;p&gt;Using the ECG derivation from the scalp EEG recording, we extracted interbeat intervals during all seizures, as well as for ","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"882-885"},"PeriodicalIF":1.9,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20281","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nothing about us all, without us all-Time for a second look at our exclusion criteria? 没有我们大家,就没有我们大家--是时候重新审视我们的排除标准了?
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-05 DOI: 10.1002/epd2.20297
Claire Behan
{"title":"Nothing about us all, without us all-Time for a second look at our exclusion criteria?","authors":"Claire Behan","doi":"10.1002/epd2.20297","DOIUrl":"https://doi.org/10.1002/epd2.20297","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Reactivity of EEG patterns is a crucial indicator to determine the EEG is not ictal: A case of topiramate overdose. 脑电图模式的反应性是确定脑电图不是发作性的关键指标:托吡酯过量病例。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-05 DOI: 10.1002/epd2.20298
Philippe Gélisse, Arielle Crespel
{"title":"Reactivity of EEG patterns is a crucial indicator to determine the EEG is not ictal: A case of topiramate overdose.","authors":"Philippe Gélisse, Arielle Crespel","doi":"10.1002/epd2.20298","DOIUrl":"https://doi.org/10.1002/epd2.20298","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Unveiling variability: A systematic review of reproducibility in visual EEG analysis, with focus on seizures 揭示变异性:视觉脑电图分析可重复性系统回顾,重点关注癫痫发作。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1002/epd2.20291
Eivind Aanestad, Sándor Beniczky, Henning Olberg, Jan Brogger

Objective

Reproducibility is key for diagnostic tests involving subjective evaluation by experts. Our aim was to systematically review the reproducibility of visual analysis in clinical electroencephalogram (EEG). In this paper, we give data on the scope of EEG features found, and detailed reproducibility data for the most studied feature.

Methods

We searched four databases for articles reporting reproducibility in clinical EEG, until June 2023. Two raters screened 24 553 citations, and then 2736 full texts. Quality was assessed according to the GRRAS guidelines.

Results

We found 275 studies (268 interrater and 20 intrarater), addressing 606 different EEG features. Only 38 EEG features had been studied in >2 studies. Most studies had <50 patients and EEGs. The most often addressed feature was seizure detection (62 papers). Interrater reproducibility of seizure detection was substantial-to-almost-perfect with experienced raters and raw EEG (kappa .62–.88). With experienced raters and transformed EEG, reproducibility was substantial (kappa .63–.70). Inexperienced raters had lower reproducibility. Seizure lateralization reproducibility was moderate to substantial (kappa .58–.77) but lower than for seizure detection.

Significance

Most EEG reproducibility studies are done only once. Intrarater studies are rare. The reproducibility of visual EEG analysis is variable. Interrater reproducibility for seizure detection is substantial-to-perfect with experienced raters and raw EEG, less with inexperienced raters or transformed EEG.

The results of visual EEG analysis vary within the same rater, and between raters. There is a need for larger collaborative studies, using improved methodology, as well as more intrarater studies of EEG interpretation.

客观性:可重复性是涉及专家主观评价的诊断测试的关键。我们的目的是系统回顾临床脑电图(EEG)视觉分析的再现性。在本文中,我们提供了所发现的脑电图特征的范围数据,以及研究最多的特征的详细再现性数据:我们在四个数据库中搜索了截至 2023 年 6 月报道临床脑电图重现性的文章。两名评分员筛选了 24 553 条引文,然后筛选了 2736 篇全文。研究质量根据 GRRAS 指南进行评估:我们发现了 275 项研究(其中 268 项为资料间研究,20 项为资料内部研究),涉及 606 种不同的脑电图特征。只有 38 项脑电图特征在超过 2 项研究中进行过研究。大多数研究具有重要意义:大多数脑电图重现性研究只进行过一次。同行间的研究很少见。视觉脑电图分析的重现性参差不齐。对于有经验的评分者和原始脑电图,癫痫发作检测的评分者间重现性很高甚至达到完美,而对于无经验的评分者或转换脑电图,评分者间重现性则较低。视觉脑电图分析的结果在同一评分员和不同评分员之间存在差异。有必要使用改进的方法进行更大规模的合作研究,并对脑电图判读进行更多的内部研究。
{"title":"Unveiling variability: A systematic review of reproducibility in visual EEG analysis, with focus on seizures","authors":"Eivind Aanestad,&nbsp;Sándor Beniczky,&nbsp;Henning Olberg,&nbsp;Jan Brogger","doi":"10.1002/epd2.20291","DOIUrl":"10.1002/epd2.20291","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Reproducibility is key for diagnostic tests involving subjective evaluation by experts. Our aim was to systematically review the reproducibility of visual analysis in clinical electroencephalogram (EEG). In this paper, we give data on the scope of EEG features found, and detailed reproducibility data for the most studied feature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We searched four databases for articles reporting reproducibility in clinical EEG, until June 2023. Two raters screened 24 553 citations, and then 2736 full texts. Quality was assessed according to the GRRAS guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found 275 studies (268 interrater and 20 intrarater), addressing 606 different EEG features. Only 38 EEG features had been studied in &gt;2 studies. Most studies had &lt;50 patients and EEGs. The most often addressed feature was seizure detection (62 papers). Interrater reproducibility of seizure detection was substantial-to-almost-perfect with experienced raters and raw EEG (kappa .62–.88). With experienced raters and transformed EEG, reproducibility was substantial (kappa .63–.70). Inexperienced raters had lower reproducibility. Seizure lateralization reproducibility was moderate to substantial (kappa .58–.77) but lower than for seizure detection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Most EEG reproducibility studies are done only once. Intrarater studies are rare. The reproducibility of visual EEG analysis is variable. Interrater reproducibility for seizure detection is substantial-to-perfect with experienced raters and raw EEG, less with inexperienced raters or transformed EEG.</p>\u0000 \u0000 <p>The results of visual EEG analysis vary within the same rater, and between raters. There is a need for larger collaborative studies, using improved methodology, as well as more intrarater studies of EEG interpretation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"827-839"},"PeriodicalIF":1.9,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20291","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peripartum seizures in women with epilepsy and multidisciplinary considerations as to how they can be prevented 癫痫妇女的围产期癫痫发作以及如何预防癫痫发作的多学科考虑。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1002/epd2.20283
Melanie Nana, Surabhi Nanda, Jennifer Nightingale, Maryann Butchers, Anita Banerjee, Sonji Clarke, Catherine Williamson, William Stern, Catherine Nelson-Piercy

Objective

Seizures during labor are reported in 3.5% of women with epilepsy (WWE) and can result in both maternal and fetal morbidity. In response to an anecdotal increase in WWE developing seizures in labor or peripartum (up to 24 h post-partum), a review of patients managed in our service was undertaken to define the incidence of peripartum seizures and determine learning points.

Methods

A retrospective review of all cases of WWE having peripartum seizures from 2017 to 2022 in our institution was undertaken. Each case was reviewed by the multidisciplinary team (MDT) and common themes identified.

Results

In total, 106 WWE received pregnancy care in the study period, of whom 8/106 (7.5%) had a seizure in the peripartum period. The MDT-agreed learning points included importance of pre-pregnancy counseling, prompt up-titration of antiepileptic drugs where indicated and recommendations for the management in the peripartum period.

Significance

We concluded that the peripartum period remains a high-risk time for seizures in WWE. There is little evidence to support guidelines for the management of WWE in the peripartum period. In the absence of this evidence, sharing experience may help those managing such women to improve care and reduce risk during this vulnerable time.

目的:据报道,3.5%的女性癫痫患者(WWE)会在分娩过程中出现癫痫发作,并可能导致产妇和胎儿发病。据传闻,WWE 在分娩或围产期(产后 24 小时内)出现癫痫发作的情况有所增加,为此,我们对本部门管理的患者进行了回顾,以确定围产期癫痫发作的发生率,并确定学习要点:对我院2017年至2022年所有WWE围产期癫痫发作病例进行回顾性审查。多学科团队(MDT)对每个病例进行了审查,并确定了共同的主题:在研究期间,共有106名WWE接受了孕期护理,其中8/106人(7.5%)在围产期癫痫发作。医疗小组商定的学习要点包括孕前咨询的重要性、在有指征的情况下及时升级抗癫痫药物以及围产期管理建议:我们的结论是,围产期仍是 WWE 癫痫发作的高危期。目前几乎没有证据支持围产期 WWE 管理指南。在缺乏证据的情况下,分享经验可能有助于管理此类妇女的人员在这一脆弱时期改善护理并降低风险。
{"title":"Peripartum seizures in women with epilepsy and multidisciplinary considerations as to how they can be prevented","authors":"Melanie Nana,&nbsp;Surabhi Nanda,&nbsp;Jennifer Nightingale,&nbsp;Maryann Butchers,&nbsp;Anita Banerjee,&nbsp;Sonji Clarke,&nbsp;Catherine Williamson,&nbsp;William Stern,&nbsp;Catherine Nelson-Piercy","doi":"10.1002/epd2.20283","DOIUrl":"10.1002/epd2.20283","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Seizures during labor are reported in 3.5% of women with epilepsy (WWE) and can result in both maternal and fetal morbidity. In response to an anecdotal increase in WWE developing seizures in labor or peripartum (up to 24 h post-partum), a review of patients managed in our service was undertaken to define the incidence of peripartum seizures and determine learning points.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective review of all cases of WWE having peripartum seizures from 2017 to 2022 in our institution was undertaken. Each case was reviewed by the multidisciplinary team (MDT) and common themes identified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 106 WWE received pregnancy care in the study period, of whom 8/106 (7.5%) had a seizure in the peripartum period. The MDT-agreed learning points included importance of pre-pregnancy counseling, prompt up-titration of antiepileptic drugs where indicated and recommendations for the management in the peripartum period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>We concluded that the peripartum period remains a high-risk time for seizures in WWE. There is little evidence to support guidelines for the management of WWE in the peripartum period. In the absence of this evidence, sharing experience may help those managing such women to improve care and reduce risk during this vulnerable time.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"797-803"},"PeriodicalIF":1.9,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 Dianalund experience: A review of the 6th ILAE School on Advanced EEG and Epilepsy Dianalund 的经验:第六届 ILAE 高级脑电图和癫痫学校回顾。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-25 DOI: 10.1002/epd2.20289
Daniel Filipe Borges, Giulia Primicerio, Radu-Ștefan Perjoc, Lars Ølgaard Bloch, Melita Cacic Hribljan
{"title":"The Dianalund experience: A review of the 6th ILAE School on Advanced EEG and Epilepsy","authors":"Daniel Filipe Borges,&nbsp;Giulia Primicerio,&nbsp;Radu-Ștefan Perjoc,&nbsp;Lars Ølgaard Bloch,&nbsp;Melita Cacic Hribljan","doi":"10.1002/epd2.20289","DOIUrl":"10.1002/epd2.20289","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"898-901"},"PeriodicalIF":1.9,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Sleep-related hypermotor seizures originating from the occipital lobe 源于枕叶的睡眠相关运动过度癫痫发作。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-21 DOI: 10.1002/epd2.20285
Lara Wadi, Mays Khweileh, Shruti Agashe, Derek Southwell, Prachi Parikh, Birgit Frauscher

We present two unique cases of sleep-related hypermotor epilepsy (SHE) originating from the occipital lobe. Patients with sleep-related seizures and drug-resistant occipital lobe epilepsy were identified from the ANPHY lab stereo-electroencephalography (SEEG) research database at the Duke Comprehensive Epilepsy Center. We identified two young females with frequent sleep-related focal seizures and occasional focal to bilateral tonic clonic seizures characterized by hypermotor movements. During wakefulness, the semiology also involved an elementary visual aura. They meet the 2016 diagnostic criteria for SHE, and SEEG monitoring with cortical stimulation mapping identified an epileptogenic zone (EZ) within the occipital lobe, with most seizures occurring out of NREM 2 sleep. Responsive neurostimulation devices were implanted, which indicated a trend for event detections in nocturnal periods. Extrafrontal SHE has characteristically been described in the temporal, insular-opercular, and parietal lobes. Here, we demonstrate using SEEG-confirmed EZ identification, that SHE can also originate in the occipital lobe. In patients with sleep-related seizures and hypermotor behavior, occipital lobe seizures thus should not be excluded from the differential diagnosis. Key in identifying this rare localization is non-frontal aura semiology and delay to motor symptoms, which may be supported by a visual field deficit and structural MRI abnormality.

我们介绍了两例独特的源自枕叶的睡眠相关运动性癫痫(SHE)病例。我们从杜克大学综合癫痫中心的 ANPHY 实验室立体脑电图 (SEEG) 研究数据库中发现了与睡眠相关的癫痫发作和耐药性枕叶癫痫患者。我们发现两名年轻女性经常出现与睡眠相关的局灶性癫痫发作,并偶尔出现局灶性至双侧强直阵挛发作,其特点是运动过度。在清醒状态下,其半身症状还包括基本的视觉先兆。他们符合 2016 年的 SHE 诊断标准,SEEG 监测与皮层刺激图确定了枕叶内的致痫区(EZ),大多数癫痫发作发生在 NREM 2 睡眠外。该患者植入了反应神经刺激装置,该装置显示出在夜间检测到事件的趋势。额叶外 SHE 的特征性描述是在颞叶、岛叶-眼眶和顶叶。在这里,我们使用 SEEG 确认 EZ 识别来证明,SHE 也可以起源于枕叶。因此,在与睡眠相关的癫痫发作和过度运动行为的患者中,不应将枕叶癫痫发作排除在鉴别诊断之外。识别这种罕见定位的关键是非额叶先兆半身像和运动症状的延迟,视野缺损和结构性核磁共振成像异常可能支持这种诊断。
{"title":"Sleep-related hypermotor seizures originating from the occipital lobe","authors":"Lara Wadi,&nbsp;Mays Khweileh,&nbsp;Shruti Agashe,&nbsp;Derek Southwell,&nbsp;Prachi Parikh,&nbsp;Birgit Frauscher","doi":"10.1002/epd2.20285","DOIUrl":"10.1002/epd2.20285","url":null,"abstract":"<p>We present two unique cases of sleep-related hypermotor epilepsy (SHE) originating from the occipital lobe. Patients with sleep-related seizures and drug-resistant occipital lobe epilepsy were identified from the ANPHY lab stereo-electroencephalography (SEEG) research database at the Duke Comprehensive Epilepsy Center. We identified two young females with frequent sleep-related focal seizures and occasional focal to bilateral tonic clonic seizures characterized by hypermotor movements. During wakefulness, the semiology also involved an elementary visual aura. They meet the 2016 diagnostic criteria for SHE, and SEEG monitoring with cortical stimulation mapping identified an epileptogenic zone (EZ) within the occipital lobe, with most seizures occurring out of NREM 2 sleep. Responsive neurostimulation devices were implanted, which indicated a trend for event detections in nocturnal periods. Extrafrontal SHE has characteristically been described in the temporal, insular-opercular, and parietal lobes. Here, we demonstrate using SEEG-confirmed EZ identification, that SHE can also originate in the occipital lobe. In patients with sleep-related seizures and hypermotor behavior, occipital lobe seizures thus should not be excluded from the differential diagnosis. Key in identifying this rare localization is non-frontal aura semiology and delay to motor symptoms, which may be supported by a visual field deficit and structural MRI abnormality.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"868-874"},"PeriodicalIF":1.9,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Electrographic status epilepticus or encephalopathy in baclofen intoxication? 巴氯芬中毒的电图状态癫痫还是脑病?
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-18 DOI: 10.1002/epd2.20282
Mariam H. Hleuhel, Christoph P. Beier, Thomas Krøigård
<p>Baclofen is a synthetic derivative of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). It is considered first-line treatment for spasticity, particularly in spinal cord-related diseases such as multiple sclerosis, spinal cord injuries, and cerebral palsy. Doses between 80 and 2500 mg are associated with intoxication and more than 200 mg is associated with intensive care unit admission.<span><sup>1</sup></span> Commonly reported effects of baclofen overdose include muscle weakness, hemodynamic instability, cardiac arrhythmias, respiratory depression, CNS depression, and epileptic seizures.<span><sup>2</sup></span> The exact mechanism responsible for the proconvulsant effect of high baclofen doses is unknown. Indeed, low-dose baclofen rather exhibits antiepileptic effects. Thus, the clinical proconvulsant effects properties seem paradoxical. They may be explained by GABA receptors located presynaptically on GABAergic axonal terminals modulating neural activity.<span><sup>1</sup></span> Activation of presynaptic GABA receptors can lead to the inhibition of inhibition providing a potential mechanism for neuronal excitation.</p><p>Some early reports described the electroencephalographic features of baclofen toxicity as nonconvulsive status epilepticus (NCSE),<span><sup>3</sup></span> while others described them as consistent with baclofen-induced encephalopathy.<span><sup>4</sup></span> Since then, detailed Salzburg consensus criteria<span><sup>5</sup></span> and American Clinical Neurophysiology Society's (ACNS) Standardized Critical Care EEG Terminology criteria<span><sup>6</sup></span> for the diagnosis of NCSE have been defined. We describe the electroencephalographic findings in a 49-year-old woman with a reduced level of consciousness caused by intoxication with 300 mg of baclofen.</p><p>The patient had chronic pain, asthma, ischemic heart disease, hypertension, and cervical disc herniation. She was found unconscious with tongue bite, soaked with urine and with blood on her face. Paramedics administered 2.5 mg of midazolam. Neurological evaluation revealed small twitches in the left arm and shoulder and no other focal signs. Consciousness was reduced (GCS 11 [E3, V3, M5]). Due to clinical suspicion of NCSE, 5.5 g of levetiracetam was administered i.v., followed by 3.5 g of valproate and 200 mg of lacosamide. There was no clinical improvement. Drug screening was negative and there was no ethanol in the blood. Lactate, standard biochemistry, magnetic resonance imaging of the brain, and spinal fluid analysis including examination for autoimmune encephalitis antibodies was unremarkable.</p><p>EEG recorded the day after admission showed sharp generalized periodic discharges at a frequency of 26/10 seconds (Figure 1A) fulfilling Salzburg consensus and ACNS criteria for NCSE.<span><sup>5, 6</sup></span> However, this activity was terminated by auditory stimulation (Figure 1B) and followed by diffuse theta activity. The activity shown
巴氯芬是抑制性神经递质γ -氨基丁酸(GABA)的合成衍生物。它被认为是痉挛的一线治疗,特别是在脊髓相关疾病,如多发性硬化症、脊髓损伤和脑瘫。剂量在80至2500毫克之间与中毒有关,超过200毫克与入住重症监护病房有关通常报道的巴氯芬过量的影响包括肌肉无力、血流动力学不稳定、心律失常、呼吸抑制、中枢神经系统抑制和癫痫发作高剂量巴氯芬抗惊厥作用的确切机制尚不清楚。事实上,低剂量巴氯芬具有抗癫痫作用。因此,临床抗惊厥作用的性质似乎是矛盾的。这可能是由于GABA受体位于突触前GABA能轴突末端,调节神经活动突触前GABA受体的激活可导致抑制的抑制,为神经元兴奋提供了一种潜在的机制。一些早期报告将巴氯芬毒性的脑电图特征描述为非惊厥性癫痫持续状态(NCSE) 3,而另一些报告将其描述为与巴氯芬诱导的脑病一致4此后,详细的萨尔茨堡共识标准(Salzburg consensus criteria)和美国临床神经生理学会(ACNS)的标准化危重监护脑电图术语标准(标准化危重监护脑电图术语标准)被定义用于诊断NCSE。我们描述的脑电图发现在一个49岁的妇女与300毫克巴氯芬中毒引起的意识水平下降。患者有慢性疼痛、哮喘、缺血性心脏病、高血压和颈椎间盘突出。她被发现时已经失去知觉,舌头被咬伤,浑身都是尿,脸上还有血。医护人员给他注射了2.5毫克咪达唑仑。神经学评估显示左臂和肩部有轻微抽搐,无其他局灶性征象。意识降低(GCS 11 [E3, V3, M5])。因临床怀疑为NCSE,静脉给予左乙拉西坦5.5 g,丙戊酸3.5 g,拉科沙胺200 mg。没有临床改善。药物筛选呈阴性,血液中无乙醇。乳酸、标准生化、脑磁共振成像和脊髓液分析(包括自身免疫性脑炎抗体检查)均无显著差异。入院后第二天记录的脑电图显示以26/10秒的频率出现剧烈的广泛性周期性放电(图1A),符合萨尔茨堡一致意见和ACNS对ncse的标准。5,6然而,这种活动被听觉刺激终止(图1B),随后出现弥漫性θ波活动。图1A所示的活动在整个记录过程中都存在,除了刺激,当它被中断大约10秒时。入院第4天重复脑电图(图1C)显示弥漫性慢波和不规则间隔出现的广泛性尖波。患者意识逐渐改善,入院后9天完全清醒。患者报告在入院前自主增加巴氯芬剂量并每日摄入约30片巴氯芬片(每片10mg)。没有自杀的念头。2个月后临床随访,患者仍处于病前功能状态。获得患者的知情同意。这是首个有符合Salzburg和ACNS NCSE标准的巴氯芬中毒患者的电图特征的报告。然而,我们注意到这种活动被刺激终止,取而代之的是漫反射活动。在最近对脑病患者的广泛性周期性放电的回顾中,有人认为,除了NCSE的既定标准之外,刺激诱导的觉醒与脑电图的短暂改善是一个重要的特征,应该被视为确定脑电图不是关键的主要标准。7使代谢性脑病和NCSE之间的区别进一步复杂化,前者可能与癫痫发作有关8以前的病例报告描述了巴氯芬中毒的广泛性锐波。9,10尖波描述为伪周期或周期,频率范围为&lt;19 ~ 2hz此外,背景活动也有所减缓。巴氯芬停药后癫痫样活动消失。在通过医院脑电图数据库确定的14例巴氯芬中毒患者中,10例出现频率为1-2赫兹的广泛性三相波所有录音均不符合NCSE标准。此外,所有患者的背景活动普遍减慢或抑制。 在大鼠身上进行的实验表明,脑电图变化是剂量依赖性的,范围从广泛的周期性放电或间隔1- 2秒的两相或三相复合体到爆发抑制和最终抑制综上所述,巴氯芬中毒可诱发脑电图特征,符合萨尔茨堡标准和ACNS标准。然而,考虑到癫痫样活动被听觉刺激终止和良好的临床结果,我们将电图结果解释为中毒性脑病的一种模式。Salzburg标准的严格应用可能导致对巴氯芬中毒患者NCSE的高估。作者声明他们没有利益冲突。
{"title":"Electrographic status epilepticus or encephalopathy in baclofen intoxication?","authors":"Mariam H. Hleuhel,&nbsp;Christoph P. Beier,&nbsp;Thomas Krøigård","doi":"10.1002/epd2.20282","DOIUrl":"10.1002/epd2.20282","url":null,"abstract":"&lt;p&gt;Baclofen is a synthetic derivative of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). It is considered first-line treatment for spasticity, particularly in spinal cord-related diseases such as multiple sclerosis, spinal cord injuries, and cerebral palsy. Doses between 80 and 2500 mg are associated with intoxication and more than 200 mg is associated with intensive care unit admission.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Commonly reported effects of baclofen overdose include muscle weakness, hemodynamic instability, cardiac arrhythmias, respiratory depression, CNS depression, and epileptic seizures.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; The exact mechanism responsible for the proconvulsant effect of high baclofen doses is unknown. Indeed, low-dose baclofen rather exhibits antiepileptic effects. Thus, the clinical proconvulsant effects properties seem paradoxical. They may be explained by GABA receptors located presynaptically on GABAergic axonal terminals modulating neural activity.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Activation of presynaptic GABA receptors can lead to the inhibition of inhibition providing a potential mechanism for neuronal excitation.&lt;/p&gt;&lt;p&gt;Some early reports described the electroencephalographic features of baclofen toxicity as nonconvulsive status epilepticus (NCSE),&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; while others described them as consistent with baclofen-induced encephalopathy.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; Since then, detailed Salzburg consensus criteria&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt; and American Clinical Neurophysiology Society's (ACNS) Standardized Critical Care EEG Terminology criteria&lt;span&gt;&lt;sup&gt;6&lt;/sup&gt;&lt;/span&gt; for the diagnosis of NCSE have been defined. We describe the electroencephalographic findings in a 49-year-old woman with a reduced level of consciousness caused by intoxication with 300 mg of baclofen.&lt;/p&gt;&lt;p&gt;The patient had chronic pain, asthma, ischemic heart disease, hypertension, and cervical disc herniation. She was found unconscious with tongue bite, soaked with urine and with blood on her face. Paramedics administered 2.5 mg of midazolam. Neurological evaluation revealed small twitches in the left arm and shoulder and no other focal signs. Consciousness was reduced (GCS 11 [E3, V3, M5]). Due to clinical suspicion of NCSE, 5.5 g of levetiracetam was administered i.v., followed by 3.5 g of valproate and 200 mg of lacosamide. There was no clinical improvement. Drug screening was negative and there was no ethanol in the blood. Lactate, standard biochemistry, magnetic resonance imaging of the brain, and spinal fluid analysis including examination for autoimmune encephalitis antibodies was unremarkable.&lt;/p&gt;&lt;p&gt;EEG recorded the day after admission showed sharp generalized periodic discharges at a frequency of 26/10 seconds (Figure 1A) fulfilling Salzburg consensus and ACNS criteria for NCSE.&lt;span&gt;&lt;sup&gt;5, 6&lt;/sup&gt;&lt;/span&gt; However, this activity was terminated by auditory stimulation (Figure 1B) and followed by diffuse theta activity. The activity shown ","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"886-888"},"PeriodicalIF":1.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of genetic testing in adult patients with unexplained epilepsy 基因检测在不明原因癫痫成年患者中的作用。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-16 DOI: 10.1002/epd2.20286
Chi-Ting Chung, Ni-Chung Lee, I-Ting Lin, Pin-Yu Chen, Tun Jao

Objective

Genetic causes are often overlooked in patients with epilepsy of unknown etiology, particularly in adults. We aimed to evaluate clinical features of genetic epilepsy and the utility of genetic testing.

Methods

We retrospectively screened consecutive unrelated adult epilepsy patients at an epilepsy clinic from April 2022 to May 2023. Patients with unknown etiology or special brain lesions were classified as unexplained epilepsy. In them, patients with young-onset seizures or family history of seizures who were recommended for and ultimately underwent genetic testing using either panel next-generation sequencing (NGS) or whole-exome sequencing (WES) were enrolled. A definite or probable genetic diagnosis was established through genotype–phenotype correlation. We compared the demographic characteristics between genetic epilepsy and other etiologies.

Results

Of the 374 adult epilepsy patients, 258 were classified as unexplained epilepsy, 129 were suspected of having genetic epilepsy due to young-onset seizures or a positive family history, 33 underwent genetic testing; 13 harbored variants classified as pathogenic, and 6 reached a definite genetic diagnosis, resulting in a yield of 18%. Among the 27 patients without a definite genetic diagnosis, 7 had a nongenetic structural etiology. Patients with genetic etiology exhibited greater multisystem involvement particularly multiple structural anomalies and early childhood-onset seizures, but wasn't directly correlated with young-onset seizures or a positive family history. The diagnostic yield was comparable between panel NGS and WES.

Significance

In adult patients with unexplained epilepsy, genetic epilepsy is more associated with multisystem involvement and multiple structural anomalies but not family history of seizures or young-onset seizures.

目的:病因不明的癫痫患者,尤其是成人癫痫患者的遗传原因常常被忽视。我们旨在评估遗传性癫痫的临床特征和基因检测的效用:我们回顾性地筛查了 2022 年 4 月至 2023 年 5 月在一家癫痫诊所就诊的连续非亲属成人癫痫患者。病因不明或脑部有特殊病变的患者被归类为不明原因癫痫。在这些患者中,有年轻发作或家族发作史的患者被推荐并最终接受了使用面板下一代测序(NGS)或全外显子组测序(WES)进行的基因检测。通过基因型与表型的相关性确定明确或可能的基因诊断。我们比较了遗传性癫痫与其他病因之间的人口统计学特征:在 374 名成年癫痫患者中,有 258 人被归类为原因不明的癫痫,129 人因幼年发作或家族史阳性而被怀疑患有遗传性癫痫,33 人接受了基因检测;13 人携带被归类为致病性的变异,6 人获得明确的基因诊断,基因诊断率为 18%。在没有明确遗传诊断的 27 名患者中,有 7 人的病因是非遗传结构性的。有遗传病因的患者表现出更多的多系统受累,尤其是多种结构异常和早期儿童发作,但与年轻发作或阳性家族史并无直接关联。面板 NGS 和 WES 的诊断率相当:在原因不明的成年癫痫患者中,遗传性癫痫与多系统受累和多种结构异常更相关,但与癫痫发作家族史或幼年发作无关。
{"title":"The role of genetic testing in adult patients with unexplained epilepsy","authors":"Chi-Ting Chung,&nbsp;Ni-Chung Lee,&nbsp;I-Ting Lin,&nbsp;Pin-Yu Chen,&nbsp;Tun Jao","doi":"10.1002/epd2.20286","DOIUrl":"10.1002/epd2.20286","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Genetic causes are often overlooked in patients with epilepsy of unknown etiology, particularly in adults. We aimed to evaluate clinical features of genetic epilepsy and the utility of genetic testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively screened consecutive unrelated adult epilepsy patients at an epilepsy clinic from April 2022 to May 2023. Patients with unknown etiology or special brain lesions were classified as unexplained epilepsy. In them, patients with young-onset seizures or family history of seizures who were recommended for and ultimately underwent genetic testing using either panel next-generation sequencing (NGS) or whole-exome sequencing (WES) were enrolled. A definite or probable genetic diagnosis was established through genotype–phenotype correlation. We compared the demographic characteristics between genetic epilepsy and other etiologies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 374 adult epilepsy patients, 258 were classified as unexplained epilepsy, 129 were suspected of having genetic epilepsy due to young-onset seizures or a positive family history, 33 underwent genetic testing; 13 harbored variants classified as pathogenic, and 6 reached a definite genetic diagnosis, resulting in a yield of 18%. Among the 27 patients without a definite genetic diagnosis, 7 had a nongenetic structural etiology. Patients with genetic etiology exhibited greater multisystem involvement particularly multiple structural anomalies and early childhood-onset seizures, but wasn't directly correlated with young-onset seizures or a positive family history. The diagnostic yield was comparable between panel NGS and WES.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>In adult patients with unexplained epilepsy, genetic epilepsy is more associated with multisystem involvement and multiple structural anomalies but not family history of seizures or young-onset seizures.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"814-826"},"PeriodicalIF":1.9,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Epileptic Disorders
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:481959085
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