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Dravet syndrome: From neurodevelopmental to neurodegenerative disease?
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-03-04 DOI: 10.1111/epi.18329
Arunan Selvarajah, Andrea Sabo, Carolina Gorodetsky, Paula T Marques, Ilakkiah Chandran, Miles Thompson, Quratulain Zulfiqar Ali, Mary Pat McAndrews, Maria Carmela Tartaglia, Victor S T Lira, Linda Huh, Mary Connolly, Arezoo Rezazadeh, Farah Qaiser, Tadeu A Fantaneanu, Monica Duong, Karen Barboza, Lysa Boissé Lomax, Luciana Inuzuka Nakaharada, Kette Valente, Jack Arbinuch, Mariana Espindola, Eliana Garzon, Gianluca Sorrento, Mary Anne Meskis, Nicole Villas, Veronica Hood, Marta Gonzalez, Elena Cardenal-Muñoz, Jose Angel Aiba, Lauraine McKenna, Christine Linehan, Sophine Hohn, Stéphane Auvin, Orrin Devinsky, Ryan Yuen, Anne T Berg, Babak Taati, Alfonso Fasano, Danielle M Andrade

Objective: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests. We also investigated possible correlations between symptoms, age, and exposure to sodium channel blockers (SCBs).

Methods: This cross-sectional, multicenter study used the Vineland Adaptive Behavior Scales, 3rd edition (raw scores) for behavior analyses and Moss-Psychiatric Assessment Schedules checklist to screen for psychiatric symptoms. The Social Communication Questionnaire screened for social communication deficits. Parkinsonian features were evaluated with the modified Unified Parkinson's Disease Rating Scale. For gait evaluation, we validated the use of home videos, using instrumental gait analysis in a subgroup of patients, and then used the home videos for the remainder.

Results: A total of 92 patients were enrolled (age range = 18-51 years, mean = 27.93 ± 8.59 years). Sixty percent of caregivers observed a decline in previously acquired skills, including intelligence, speech, interaction with others, ability to climb stairs and walk without support, and hand coordination. Adaptive skills, parkinsonian symptoms, and gait were worse in older patients and those exposed to SCBs for longer periods of time. Fourteen percent of patients screened positive for affective disorders, 11.6% for dementia, and 10.5% for a psychotic disorder. Fifty-three percent screened positive for social communication deficits.

Significance: This is the largest group of adults with DS to be systematically evaluated. They had severe nonseizure symptoms. Older age and longer use of SCBs were associated with worse adaptive skills, gait, and parkinsonism. Some older adults screened positive for depression and dementia. Caregivers identified functional decline in activities of daily living (ADLs). Taken together, the risk of dementia, parkinsonian gait, and decline in ability to perform previously mastered ADLs support that some adults with DS may be developing a neurodegenerative disorder.

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引用次数: 0
Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors: Results from a European survey.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-03-01 DOI: 10.1111/epi.18323
Robert Lersch, Till Hartlieb, Tom Pieper, Manfred Kudernatsch, Wiebke Hofer, Carmen Barba, Renzo Guerrini, Flavio Giordano, Marianna Pommella, Susanne Schubert-Bast, Steffen Syrbe, Ricardo Rego, Jorge Pinheiro, Martha Feucht, Alexander Beck, Roland Coras, Ingmar Blumcke, Michael Alber, Moritz Tacke, Jan Rémi, Christian Vollmar, Mathias Kunz, Jay Shetty, Ailsa McLellan, Drahoslav Sokol, Jothy Kandasamy, Kerstin Alexandra Klotz, Victoria San Antonio-Arce, Andreas Schulze-Bonhage, Joshua Pepper, William B Lo, Alexis Arzimanoglou, Stefano Francione, Christian J Braun, Ingo Borggraefe

Objective: Epilepsy surgery is a standard treatment for drug-resistant epilepsy, resulting in seizure freedom in a significant number of cases. Although frequently performed for low-grade brain tumors, it is rarely considered for high-grade tumors, despite the impact of chronic epilepsy on quality of life and cognition.

Methods: This retrospective multicenter study across 43 European centers evaluated epilepsy surgery outcomes in children with high-grade brain tumors (World Health Organization grades III and IV). Two cohorts of patients younger than 25 years were studied: (1) those undergoing epilepsy surgery after tumor resection (n = 14) and (2) those initially suspected of low-grade lesions but diagnosed with high-grade brain tumors postsurgery (n = 11).

Results: Eighty percent of patients achieved seizure freedom 1 year after last epilepsy surgery: 71% in Cohort 1 and 91% in Cohort 2. Eighty-four percent were free of disabling seizures (Engel IA-D) after a median follow-up period of 4.3 years (range = 1-15.9 years). No surgery-related deaths occurred. Thirty-two percent of children experienced persistent morbidity, including motor dysfunction, visual impairment, persistent seizures, cognitive deficits, and hydrocephalus.

Significance: Epilepsy surgery is effective for medically refractory epilepsy in children with high-grade central nervous system tumors and should be considered early, as seizure freedom is achieved in the majority of patients. Despite involving numerous epilepsy centers, only 25 patients were recruited, indicating that this method is rarely considered for high-grade brain tumor patients with medically refractory epilepsy.

目的:癫痫手术是耐药性癫痫的标准治疗方法,在相当多的病例中,手术可使癫痫不再发作。尽管低级别脑肿瘤经常接受手术治疗,但高级别肿瘤却很少考虑接受手术治疗,尽管慢性癫痫会影响患者的生活质量和认知能力:这项回顾性多中心研究横跨 43 个欧洲中心,评估了高级别脑肿瘤(世界卫生组织 III 级和 IV 级)患儿的癫痫手术治疗效果。研究对象包括两组年龄小于25岁的患者:(1)肿瘤切除后接受癫痫手术的患者(n = 14);(2)最初怀疑为低级别病变但术后确诊为高级别脑肿瘤的患者(n = 11):80%的患者在最后一次癫痫手术后1年实现了癫痫自由发作:队列 1 中的 71% 和队列 2 中的 91%。84%的患者在中位随访4.3年(范围=1-15.9年)后无致残性癫痫发作(恩格尔IA-D)。没有发生与手术相关的死亡病例。32%的患儿持续发病,包括运动功能障碍、视力障碍、癫痫持续发作、认知障碍和脑积水:癫痫手术对患有高级中枢神经系统肿瘤的儿童药物难治性癫痫有效,应及早考虑,因为大多数患者都能获得癫痫发作自由。尽管该研究涉及众多癫痫中心,但只招募了25名患者,这表明对于患有药物难治性癫痫的高级别脑肿瘤患者来说,很少考虑采用这种方法。
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引用次数: 0
Assisted reproduction and the fetal malformation risk associated with antiseizure medication exposure in pregnancy.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-28 DOI: 10.1111/epi.18335
Frank Vajda, Terence O'Brien, Janet Graham, Alison Hitchcock, Piero Perucca, Cecilie Lander, Mervyn Eadie

Objective: This study was undertaken to explore the possible role of assisted reproduction treatment (ART) in the occurrence of fetal malformation in women with antiseizure medication (ASM)-treated epilepsy.

Methods: Data collected in the Australian Pregnancy Register of Antiepileptic Drugs concerning the pregnancies of women with ASM-treated epilepsy were analyzed using standard simple statistical methods.

Results: The malformed fetal occurrence rate tended to be higher in women with epilepsy (WWE) treated with ASMs than in those untreated in at least the earlier months of pregnancy, the risk being statistically significantly higher (p < .05) in relation to valproate monotherapy. The malformation risk was greater when the pregnancy had been initiated via ART (n = 152, malformation rate = 11.18%) than when ART was not involved (n = 2388, malformation rate = 6.49%, relative risk [RR] = 1.72, 95% confidence interval [CI] = 1.07-2.77) and also greater versus ASM-treated pregnancy not involving ART (n = 2191, malformation rate = 6.79%, RR = 1.64, 95% CI = 1.02-2.64). The anatomical sites affected by the malformations also differed, the heart and great vessels being more often involved when ART had been involved. Multivariate logistic regression analysis suggested that the heightened malformation risk associated with ART plus ASM exposure seemed to be related to use of hormones in ART more than to in vitro fertilization.

Significance: WWE undertaking pregnancy through ART should be aware of the increased risk of fetal malformation beyond that related to ASM exposure. If this finding is supported in further studies, evaluations of fetal malformation risk rates associated with ASM exposure may need to be adjusted for possible overestimation because of confounder effects of ART, if ART was involved in the pregnancies studied.

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引用次数: 0
Factors influencing seizure induction in patients with intracranial EEG recording.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-28 DOI: 10.1111/epi.18331
Hina Dave, Morgan McCreary, Antonio Guerra, Michael R Sperling

Objective: To shorten inpatient epilepsy monitoring unit (EMU) stays during epilepsy surgery evaluation, physicians utilize techniques to induce seizures including antiseizure medication (ASM) reduction, sleep deprivation, and chemical stimulation. We assessed the relative efficacy of these techniques.

Methods: We reviewed data from patients admitted for intracranial video-EEG (electroencephalography) evaluation at a single center. Demographics, baseline seizure frequency, seizure type, sleep deprivation, reduction in ASM, chemical stimulation method, and seizures were recorded. Statistical analyses were performed in R with survival analyses.

Results: A total of 209 patients were evaluated. We observed an increase in the risk of seizure occurrence of 1% for every increase of one seizure per week of baseline seizure frequency (confidence interval [CI] = 1.00-1.02, p = .009). Complete cessation of both sodium channel and non-sodium channel ASMs increase the rate of seizure occurrence (CI = 1.46-2.08, p < .0001 and CI = 1.28-1.80, p < .0001, respectively). A partial reduction in sodium channel drugs within 24 h of admission or previous seizure in the EMU increased seizure risk by 40% (CI = 1.18-1.72, p = .0002). For each seizure occurring during admission, the risk of seizure recurrence increased by 5% (CI = 1.03-1.08, p < .0001). Patients with temporal lobe epilepsy exhibited a 19% lower risk of seizures within the initial 24 h of admission than patients with extratemporal seizures (CI = .68-.97, p = .02). Neither chemical stimulation nor sleep deprivation impacted seizure risk.

Significance: We found that ASM reduction was the only method that effectively induced seizures in hospitalized patients; sleep deprivation and chemical induction failed to do so. Prospective studies are needed to further understand these induction methods.

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引用次数: 0
Magnetic resonance imaging findings in SCN1A-related epilepsies and Dravet syndrome: A systematic review.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-28 DOI: 10.1111/epi.18344
Lydia Viviana Falsitta, Helen Cross, Camilla Lindan, Elizabeth George, P Ellen Grant, Sniya Sudhakar, Cesar Alves, Joseph Sullivan, Suresh Pujar, Felice D'Arco

We systematically reviewed the literature on neuroimaging findings in Dravet syndrome (DS) and SCN1A-related epilepsies to classify the reported structural abnormalities observed on magnetic resonance imaging (MRI). We searched PubMed and MEDLINE from January 2000 to June 2024 for studies describing brain MRI findings in DS and SCN1A-related epilepsies through specific keywords and MeSH (Medical Subject Headings) terms. Duplicates were removed, and titles and abstracts were screened. Studies with absent/marginal MRI focus and reviews were excluded. Images available were evaluated by two pediatric neuroradiologists in consensus. Manual reference checks were performed. For the selection process, we followed the latest PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Nineteen studies met the inclusion criteria, all of which had an observational design, including case reports (n = 3), case series (n = 7), and larger cohorts (n = 9). The most observed brain MRI findings were cortical/parenchymal atrophy, hippocampal sclerosis (HS), and malformations of cortical development. Less frequent abnormalities include callosal dysgenesis and postseizure changes on diffusion-weighted imaging. There was variability in the description across studies, as expected. This review represents a valuable reference database for current and future genetic therapy trials. DS, particularly when associated with SCN1A variants, involves a variety of neuroimaging abnormalities, including HS, diffuse brain atrophy, and malformations of cortical development. The spectrum of these findings probably reflects the interplay between genetic susceptibility, seizure duration/severity, medication effects, and timing of imaging. To date, high-quality studies on brain MRI findings are limited, and future research, with more standardized methodologies, a longitudinal design, and larger sample sizes, are needed to further uncover these relationships and improve our understanding of the disease.

我们系统地回顾了有关德雷维综合征(DS)和 SCN1A 相关癫痫的神经影像学检查结果的文献,以对磁共振成像(MRI)上观察到的结构异常进行分类。我们检索了 2000 年 1 月至 2024 年 6 月期间的 PubMed 和 MEDLINE,通过特定的关键词和 MeSH(医学主题词表)术语来查找描述 DS 和 SCN1A 相关癫痫的脑 MRI 结果的研究。删除了重复内容,并对标题和摘要进行了筛选。排除了磁共振成像病灶缺失/不明显的研究以及综述。由两名儿科神经放射学专家对现有图像进行评估,并达成共识。我们还进行了人工参考文献检查。在筛选过程中,我们遵循了最新的 PRISMA(系统综述和 Meta 分析首选报告项目)指南。19 项研究符合纳入标准,所有研究均采用观察性设计,包括病例报告(3 例)、系列病例(7 例)和大型队列(9 例)。观察到最多的脑磁共振成像结果是皮质/实质萎缩、海马硬化(HS)和皮质发育畸形。较少见的异常包括胼胝体发育不良和弥散加权成像上的癫痫发作后改变。不出所料,不同研究的描述存在差异。本综述为当前和未来的遗传疗法试验提供了宝贵的参考数据库。DS 尤其是与 SCN1A 变异相关时,会出现多种神经影像学异常,包括 HS、弥漫性脑萎缩和皮质发育畸形。这些发现的范围可能反映了遗传易感性、癫痫发作持续时间/严重程度、药物治疗效果和成像时间之间的相互作用。迄今为止,有关脑磁共振成像结果的高质量研究还很有限,未来的研究需要采用更标准化的方法、纵向设计和更大的样本量,以进一步揭示这些关系,提高我们对该疾病的认识。
{"title":"Magnetic resonance imaging findings in SCN1A-related epilepsies and Dravet syndrome: A systematic review.","authors":"Lydia Viviana Falsitta, Helen Cross, Camilla Lindan, Elizabeth George, P Ellen Grant, Sniya Sudhakar, Cesar Alves, Joseph Sullivan, Suresh Pujar, Felice D'Arco","doi":"10.1111/epi.18344","DOIUrl":"https://doi.org/10.1111/epi.18344","url":null,"abstract":"<p><p>We systematically reviewed the literature on neuroimaging findings in Dravet syndrome (DS) and SCN1A-related epilepsies to classify the reported structural abnormalities observed on magnetic resonance imaging (MRI). We searched PubMed and MEDLINE from January 2000 to June 2024 for studies describing brain MRI findings in DS and SCN1A-related epilepsies through specific keywords and MeSH (Medical Subject Headings) terms. Duplicates were removed, and titles and abstracts were screened. Studies with absent/marginal MRI focus and reviews were excluded. Images available were evaluated by two pediatric neuroradiologists in consensus. Manual reference checks were performed. For the selection process, we followed the latest PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Nineteen studies met the inclusion criteria, all of which had an observational design, including case reports (n = 3), case series (n = 7), and larger cohorts (n = 9). The most observed brain MRI findings were cortical/parenchymal atrophy, hippocampal sclerosis (HS), and malformations of cortical development. Less frequent abnormalities include callosal dysgenesis and postseizure changes on diffusion-weighted imaging. There was variability in the description across studies, as expected. This review represents a valuable reference database for current and future genetic therapy trials. DS, particularly when associated with SCN1A variants, involves a variety of neuroimaging abnormalities, including HS, diffuse brain atrophy, and malformations of cortical development. The spectrum of these findings probably reflects the interplay between genetic susceptibility, seizure duration/severity, medication effects, and timing of imaging. To date, high-quality studies on brain MRI findings are limited, and future research, with more standardized methodologies, a longitudinal design, and larger sample sizes, are needed to further uncover these relationships and improve our understanding of the disease.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Blocking the innate immune CD1d/NKT cell axis prevents the development of cortical hyperexcitability and posttraumatic epilepsy.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-28 DOI: 10.1111/epi.18332
Xingjie Ping, Wenhui Xiong, Raj Priya, Jianyun Liu, Season K Wyatt-Johnson, Randy R Brutkiewicz, Xiaoming Jin

Objective: Posttraumatic epilepsy (PTE) that develops after a traumatic brain injury (TBI) cannot be prevented by current treatments. Although neuroinflammation is involved in epileptogenesis, a potential role for cellular immunity in this process is largely unknown. Natural killer T (NKT) cells are innate-like T lymphocytes that recognize lipid antigens presented by the major histocompatibility complex class I-like CD1d molecule and play a crucial role in regulating immune responses. Herein we examined the role of the CD1d/NKT cell axis in PTE.

Methods: We used an undercut surgery to induce TBI in wild-type (WT) and CD1d-deficient (CD1d knockout [KO], CD1d KO) or NKT cell-deficient (Traj18 KO) mice. A pentylenetetrazol (PTZ) test was used to determine seizure susceptibility in vivo, and field potential recordings were made from cortical slices in vitro. Continuous video and wireless EEG monitoring was undertaken of WT and CD1d KO mice between 5 and 8 weeks after brain injury. Because statins are known to impair antigen presentation by CD1d to NKT cells, we also treated WT mice with simvastatin for 10 days after injury and performed the PTZ test. Immunofluorescence and flow cytometry were used to determine changes in immune cells in brain tissue.

Results: CD1d KO or Traj18 KO TBI mice had a significantly lower seizure susceptibility than WT mice on the PTZ test. CD1d KO mice had a significantly lower rate of detectable epileptiform activities during field potential recording. Video and EEG monitoring showed that CD1d KO TBI mice had a significantly lower frequency of spontaneous epileptic seizures. There was increased infiltration of immune cells, but reduced microgliosis in the brains of these mice. Simvastatin treatment significantly reduced seizure susceptibility in TBI mice.

Significance: Neuroinflammation initiated by the CD1d/NKT cell axis is involved in the development of cortical hyperexcitability and PTE; early treatment with simvastatin following a TBI exerts a prophylactic effect on posttraumatic epileptogenesis by blocking this axis.

{"title":"Blocking the innate immune CD1d/NKT cell axis prevents the development of cortical hyperexcitability and posttraumatic epilepsy.","authors":"Xingjie Ping, Wenhui Xiong, Raj Priya, Jianyun Liu, Season K Wyatt-Johnson, Randy R Brutkiewicz, Xiaoming Jin","doi":"10.1111/epi.18332","DOIUrl":"https://doi.org/10.1111/epi.18332","url":null,"abstract":"<p><strong>Objective: </strong>Posttraumatic epilepsy (PTE) that develops after a traumatic brain injury (TBI) cannot be prevented by current treatments. Although neuroinflammation is involved in epileptogenesis, a potential role for cellular immunity in this process is largely unknown. Natural killer T (NKT) cells are innate-like T lymphocytes that recognize lipid antigens presented by the major histocompatibility complex class I-like CD1d molecule and play a crucial role in regulating immune responses. Herein we examined the role of the CD1d/NKT cell axis in PTE.</p><p><strong>Methods: </strong>We used an undercut surgery to induce TBI in wild-type (WT) and CD1d-deficient (CD1d knockout [KO], CD1d KO) or NKT cell-deficient (Traj18 KO) mice. A pentylenetetrazol (PTZ) test was used to determine seizure susceptibility in vivo, and field potential recordings were made from cortical slices in vitro. Continuous video and wireless EEG monitoring was undertaken of WT and CD1d KO mice between 5 and 8 weeks after brain injury. Because statins are known to impair antigen presentation by CD1d to NKT cells, we also treated WT mice with simvastatin for 10 days after injury and performed the PTZ test. Immunofluorescence and flow cytometry were used to determine changes in immune cells in brain tissue.</p><p><strong>Results: </strong>CD1d KO or Traj18 KO TBI mice had a significantly lower seizure susceptibility than WT mice on the PTZ test. CD1d KO mice had a significantly lower rate of detectable epileptiform activities during field potential recording. Video and EEG monitoring showed that CD1d KO TBI mice had a significantly lower frequency of spontaneous epileptic seizures. There was increased infiltration of immune cells, but reduced microgliosis in the brains of these mice. Simvastatin treatment significantly reduced seizure susceptibility in TBI mice.</p><p><strong>Significance: </strong>Neuroinflammation initiated by the CD1d/NKT cell axis is involved in the development of cortical hyperexcitability and PTE; early treatment with simvastatin following a TBI exerts a prophylactic effect on posttraumatic epileptogenesis by blocking this axis.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Operational definition of developmental and epileptic encephalopathies to underpin the design of therapeutic trials. 发育性和癫痫性脑病的操作定义,为治疗试验的设计提供依据。
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-27 DOI: 10.1111/epi.18265
Ingrid E Scheffer, Jacqueline French, Kette D Valente, Stéphane Auvin, J Helen Cross, Nicola Specchio

Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome. Our understanding of the etiologies of DEEs has been revolutionized with next-generation sequencing, with more than 900 genes implicated, in addition to structural causes. It is therefore now possible to consider precision medicine and novel therapeutic approaches for these devastating diseases with trials of repurposed and new drugs, including gene therapies. Trials are being designed to target either DEE diseases more broadly, specific DEE syndromes, or specific genetic DEEs. To serve this purpose, a clear operational definition of DEEs is needed to ensure that appropriate patients are selected for trials with precisely defined, targeted outcome measures. Herein we propose the operational definition of DEEs to set the stage for the development of DEE therapies.

发育性癫痫性脑病(DEEs)是最严重的一类癫痫,其特点是抗药性癫痫发作和发育迟缓或倒退。发育性癫痫包括多种癫痫综合征,但并非所有发育性癫痫患者都能归入一种特定的综合征。随着新一代测序技术的发展,我们对 DEE 病因的认识发生了革命性的变化,除了结构性原因外,还有 900 多个基因与之有关。因此,我们现在可以考虑采用精准医疗和新的治疗方法来治疗这些破坏性疾病,包括基因疗法在内的改用药物和新药试验。目前正在设计针对更广泛的 DEE 疾病、特定 DEE 综合征或特定遗传性 DEE 的试验。为此,需要对 DEE 进行明确的操作性定义,以确保选择合适的患者进行试验,并精确定义目标结果指标。在此,我们提出了 DEE 的操作定义,为 DEE 治疗方法的开发奠定基础。
{"title":"Operational definition of developmental and epileptic encephalopathies to underpin the design of therapeutic trials.","authors":"Ingrid E Scheffer, Jacqueline French, Kette D Valente, Stéphane Auvin, J Helen Cross, Nicola Specchio","doi":"10.1111/epi.18265","DOIUrl":"https://doi.org/10.1111/epi.18265","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome. Our understanding of the etiologies of DEEs has been revolutionized with next-generation sequencing, with more than 900 genes implicated, in addition to structural causes. It is therefore now possible to consider precision medicine and novel therapeutic approaches for these devastating diseases with trials of repurposed and new drugs, including gene therapies. Trials are being designed to target either DEE diseases more broadly, specific DEE syndromes, or specific genetic DEEs. To serve this purpose, a clear operational definition of DEEs is needed to ensure that appropriate patients are selected for trials with precisely defined, targeted outcome measures. Herein we propose the operational definition of DEEs to set the stage for the development of DEE therapies.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Can artificial intelligence diagnose seizures based on patients' descriptions? A study of GPT-4.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-27 DOI: 10.1111/epi.18322
Joseph Ford, Nathan Pevy, Richard Grunewald, Stephen Howell, Markus Reuber

Objective: Generalist large language models (LLMs) have shown diagnostic potential in various medical contexts but have not been explored extensively in relation to epilepsy. This paper aims to test the performance of an LLM (OpenAI's GPT-4) on the differential diagnosis of epileptic and functional/dissociative seizures (FDS) based on patients' descriptions.

Methods: GPT-4 was asked to diagnose 41 cases of epilepsy (n = 16) or FDS (n = 25) based on transcripts of patients describing their symptoms (median word count = 399). It was first asked to perform this task without additional training examples (zero-shot) before being asked to perform it having been given one, two, and three examples of each condition (one-, two, and three-shot). As a benchmark, three experienced neurologists performed this task without access to any additional clinical or demographic information (e.g., age, gender, socioeconomic status).

Results: In the zero-shot condition, GPT-4's average balanced accuracy was 57% (κ = .15). Balanced accuracy improved in the one-shot condition (64%, κ = .27), but did not improve any further in the two-shot (62%, κ = .24) and three-shot (62%, κ = .23) conditions. Performance in all four conditions was worse than the mean balanced accuracy of the experienced neurologists (71%, κ = .42). However, in the subset of 18 cases that all three neurologists had "diagnosed" correctly (median word count = 684), GPT-4's balanced accuracy was 81% (κ = .66).

Significance: Although its "raw" performance was poor, GPT-4 showed noticeable improvement having been given just one example of a patient describing epilepsy and FDS. Giving two and three examples did not further improve performance, but the finding that GPT-4 did much better in those cases correctly diagnosed by all three neurologists suggests that providing more extensive clinical data and more elaborate approaches (e.g., more refined prompt engineering, fine-tuning, or retrieval augmented generation) could unlock the full diagnostic potential of LLMs.

{"title":"Can artificial intelligence diagnose seizures based on patients' descriptions? A study of GPT-4.","authors":"Joseph Ford, Nathan Pevy, Richard Grunewald, Stephen Howell, Markus Reuber","doi":"10.1111/epi.18322","DOIUrl":"https://doi.org/10.1111/epi.18322","url":null,"abstract":"<p><strong>Objective: </strong>Generalist large language models (LLMs) have shown diagnostic potential in various medical contexts but have not been explored extensively in relation to epilepsy. This paper aims to test the performance of an LLM (OpenAI's GPT-4) on the differential diagnosis of epileptic and functional/dissociative seizures (FDS) based on patients' descriptions.</p><p><strong>Methods: </strong>GPT-4 was asked to diagnose 41 cases of epilepsy (n = 16) or FDS (n = 25) based on transcripts of patients describing their symptoms (median word count = 399). It was first asked to perform this task without additional training examples (zero-shot) before being asked to perform it having been given one, two, and three examples of each condition (one-, two, and three-shot). As a benchmark, three experienced neurologists performed this task without access to any additional clinical or demographic information (e.g., age, gender, socioeconomic status).</p><p><strong>Results: </strong>In the zero-shot condition, GPT-4's average balanced accuracy was 57% (κ = .15). Balanced accuracy improved in the one-shot condition (64%, κ = .27), but did not improve any further in the two-shot (62%, κ = .24) and three-shot (62%, κ = .23) conditions. Performance in all four conditions was worse than the mean balanced accuracy of the experienced neurologists (71%, κ = .42). However, in the subset of 18 cases that all three neurologists had \"diagnosed\" correctly (median word count = 684), GPT-4's balanced accuracy was 81% (κ = .66).</p><p><strong>Significance: </strong>Although its \"raw\" performance was poor, GPT-4 showed noticeable improvement having been given just one example of a patient describing epilepsy and FDS. Giving two and three examples did not further improve performance, but the finding that GPT-4 did much better in those cases correctly diagnosed by all three neurologists suggests that providing more extensive clinical data and more elaborate approaches (e.g., more refined prompt engineering, fine-tuning, or retrieval augmented generation) could unlock the full diagnostic potential of LLMs.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Brain 18F-fluorodeoxyglucose positron emission tomography: An efficient tool at the initial diagnosis of nonlesional late onset epilepsy.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-26 DOI: 10.1111/epi.18328
Salomé Puisieux, Sébastien Heyer, Natacha Forthoffer, Matthieu Doyen, Louise Tyvaert, Antoine Verger

Objective: This study evaluates the diagnostic performance and prognostic value of brain 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET) at the initial diagnosis of patients with nonlesional late onset epilepsy (NLLOE).

Methods: In this cohort study at the University Hospital of Nancy, France, newly diagnosed NLLOE patients, >50 years old, were consecutively included from June 2017 to January 2021 and systematically underwent brain 18F-FDG PET. They were categorized into four presumed etiological NLLOE subtypes: neurodegenerative subtype (NDS; patients with a diagnosis of neurodegenerative disease), microvascular subtype (MVS; patients with ≥3 cardiovascular risk factors and ≥2 vascular lesions on magnetic resonance imaging), inflammatory subtype (IFS; patients meeting international criteria for encephalitis), and unlabeled subtype (ULS). A systematic patient follow-up (at least 2 years) allowed assessment of cognitive outcomes under antiseizure medication by comparing for each patient the proportion of preserved/altered scores between initial and second neuropsychological assessment. Brain 18F-FDG PET was analyzed using a combined visual and semiquantitative approach at the individual level.

Results: Eighty-seven patients were included (NDS, n = 18; MVS, n = 22; IFS, n = 7; ULS, n = 40). A normal 18F-FDG PET was observed in 46% of patients, with the final diagnosis of 88% of these patients excluding a neurodegenerative or inflammatory disorder. 18F-FDG PET had a negative predictive value of 94% for a cognitive decline at follow-up, similar for the overall population (n = 71) and the ULS population (n = 32). Moreover, a PET hypometabolic pattern suggestive of a neurodegenerative disorder was indicative of cognitive decline at follow-up in 74% of cases.

Significance: 18F-FDG PET as part of the initial diagnosis of NLLOE patients may have a significant impact on both NLLOE diagnosis and cognitive prognosis. For almost half of NLLOE patients, a normal 18F-FDG PET could help to exclude neurodegenerative and inflammatory epilepsy etiologies as well as future cognitive decline.

{"title":"Brain <sup>18</sup>F-fluorodeoxyglucose positron emission tomography: An efficient tool at the initial diagnosis of nonlesional late onset epilepsy.","authors":"Salomé Puisieux, Sébastien Heyer, Natacha Forthoffer, Matthieu Doyen, Louise Tyvaert, Antoine Verger","doi":"10.1111/epi.18328","DOIUrl":"https://doi.org/10.1111/epi.18328","url":null,"abstract":"<p><strong>Objective: </strong>This study evaluates the diagnostic performance and prognostic value of brain <sup>18</sup>F-fluorodeoxyglucose (<sup>18</sup>F-FDG) positron emission tomography (PET) at the initial diagnosis of patients with nonlesional late onset epilepsy (NLLOE).</p><p><strong>Methods: </strong>In this cohort study at the University Hospital of Nancy, France, newly diagnosed NLLOE patients, >50 years old, were consecutively included from June 2017 to January 2021 and systematically underwent brain <sup>18</sup>F-FDG PET. They were categorized into four presumed etiological NLLOE subtypes: neurodegenerative subtype (NDS; patients with a diagnosis of neurodegenerative disease), microvascular subtype (MVS; patients with ≥3 cardiovascular risk factors and ≥2 vascular lesions on magnetic resonance imaging), inflammatory subtype (IFS; patients meeting international criteria for encephalitis), and unlabeled subtype (ULS). A systematic patient follow-up (at least 2 years) allowed assessment of cognitive outcomes under antiseizure medication by comparing for each patient the proportion of preserved/altered scores between initial and second neuropsychological assessment. Brain <sup>18</sup>F-FDG PET was analyzed using a combined visual and semiquantitative approach at the individual level.</p><p><strong>Results: </strong>Eighty-seven patients were included (NDS, n = 18; MVS, n = 22; IFS, n = 7; ULS, n = 40). A normal <sup>18</sup>F-FDG PET was observed in 46% of patients, with the final diagnosis of 88% of these patients excluding a neurodegenerative or inflammatory disorder. <sup>18</sup>F-FDG PET had a negative predictive value of 94% for a cognitive decline at follow-up, similar for the overall population (n = 71) and the ULS population (n = 32). Moreover, a PET hypometabolic pattern suggestive of a neurodegenerative disorder was indicative of cognitive decline at follow-up in 74% of cases.</p><p><strong>Significance: </strong><sup>18</sup>F-FDG PET as part of the initial diagnosis of NLLOE patients may have a significant impact on both NLLOE diagnosis and cognitive prognosis. For almost half of NLLOE patients, a normal <sup>18</sup>F-FDG PET could help to exclude neurodegenerative and inflammatory epilepsy etiologies as well as future cognitive decline.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143499983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Evaluating the accuracy of monitoring seizure cycles with seizure diaries.
IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-02-24 DOI: 10.1111/epi.18309
Ashley Reynolds, Rachel E Stirling, Samuel Håkansson, Philippa Karoly, Alan Lai, David B Grayden, Mark J Cook, Ewan S Nurse, Andre Peterson

Objective: Epileptic seizures occurring in cyclical patterns is increasingly recognized as a significant opportunity to advance epilepsy management. Current methods for detecting seizure cycles rely on intrusive techniques or specialized biomarkers, thereby limiting their accessibility. This study evaluates a non-invasive seizure cycle detection method using seizure diaries and compares its accuracy with cycles identified from intracranial electroencephalography (iEEG) seizures and interictal epileptiform discharges (IEDs).

Methods: Using data from a previously published first in-human iEEG device trial (n = 10), we analyzed seizure cycles identified through diary reports, iEEG seizures, and IEDs. Cycle similarities across diary reports, iEEG seizures, and IEDs were evaluated at periods of 1 to 45 days using spectral coherence, accuracy, precision, recall, and the false-positive rate.

Results: A spectral coherence analysis of the raw signals showed moderately similar periodic components between diary seizures/day and iEEG seizures/day (median = .43, IQR = .68). In contrast, there was low coherence between diary seizures/day and IEDs/day (median = .11, IQR = .18) and iEEG seizures/day and IEDs/day (median = .12, IQR = .19). Accuracy, precision, recall scores, and false-positive rates of iEEG seizure cycles from diary seizure cycles were significantly higher than chance across all participants (accuracy (mean ± standard deviation): .95 ± .02; precision: .56 ± .19; recall: .56 ± .19; false-positive rate: .02 ± .01). However, accuracy, precision, and recall scores of IED cycles from both diary and iEEG cycles did not perform above chance, on average. Recall scores were compared across good diary reporters, under-reporters, and over-reporters, with recall scores generally performing better in good reporters and under-reporters compared to over-reporters.

Significance: These findings suggest that iEEG seizure cycles can be identified with diary reports, even in individuals who under- and over-report seizures. This approach offers an accessible alternative for monitoring seizure cycles compared to more invasive methods.

目的:越来越多的人认识到,癫痫周期性发作是促进癫痫治疗的一个重要机会。目前检测癫痫周期的方法依赖于侵入性技术或专门的生物标志物,因此限制了其可及性。本研究评估了一种使用发作日记的非侵入性发作周期检测方法,并将其准确性与通过颅内脑电图(iEEG)发作和发作间期癫痫样放电(IEDs)确定的周期进行了比较:利用之前发表的首次人体 iEEG 设备试验(n = 10)的数据,我们分析了通过日记报告、iEEG 癫痫发作和 IED 确定的癫痫发作周期。我们使用频谱相干性、准确性、精确性、召回率和假阳性率评估了日记报告、iEEG 癫痫发作和 IED 在 1 到 45 天期间的周期相似性:原始信号的频谱一致性分析表明,日记癫痫发作/天和 iEEG 癫痫发作/天之间的周期性成分非常相似(中位数 = .43,IQR = .68)。相比之下,日记发作/天和 IEDs/天(中位数 = 0.11,IQR = 0.18)以及 iEEG 发作/天和 IEDs/天(中位数 = 0.12,IQR = 0.19)之间的一致性较低。所有参与者的 iEEG 癫痫发作周期与日记发作周期的准确度、精确度、回忆分数和假阳性率均显著高于偶然性(准确度(平均值 ± 标准差):.95 ± .02;精确度:.95 ± .02;假阳性率:.95 ± .02):.95 ± .02;精确度:.56 ± .19;回忆分数:.56 ± .19;假阳性率:.02 ± .01)。然而,从日记和 iEEG 循环中得出的 IED 循环的准确度、精确度和召回分数的平均值并未超过偶然性。对良好的日记报告者、报告不足者和过度报告者的召回分数进行了比较,良好的报告者和报告不足者的召回分数普遍高于过度报告者:这些研究结果表明,通过日记报告可以识别 iEEG 癫痫发作周期,即使是对癫痫发作报告不足和报告过多的人也是如此。与侵入性较强的方法相比,这种方法为监测癫痫发作周期提供了一种便捷的替代方法。
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