Epileptic Disorders最新文献

{"title":"MECP2 duplication syndrome-Typical EEG characteristics.","authors":"Walter Otu, Ritu Sudhakaran, German Garza-Garcia, Krishna Parekh, Irfan S Sheikh","doi":"10.1002/epd2.70015","DOIUrl":"https://doi.org/10.1002/epd2.70015","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755631","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}

{"title":"Eye closure sensitivity and related EEG findings: Persistence rates and classification of epilepsy syndromes by the International League Against Epilepsy.","authors":"Dilara Mermi Dibek, Betül Baykan","doi":"10.1002/epd2.70014","DOIUrl":"https://doi.org/10.1002/epd2.70014","url":null,"abstract":"<p><strong>Background: </strong>We aimed to investigate the frequency and persistence rates of eye closure-related epileptiform EEG findings in a cohort with epilepsy and classify them according to the latest epilepsy syndrome classification by the International League Against Epilepsy (ILAE).</p><p><strong>Method: </strong>Consecutive patients referred to the EEG laboratory, showing eye closure sensitivity (ECS) and related EEG findings, were included between October 2022 and August 2024. Their epilepsy syndromes were classified according to ILAE. EEG patterns were categorized as ECS, eye-closed sensitivity, and fixation-off sensitivity (FOS). Persistence rates were calculated for each patient by examining all eye closures in the EEG records. The clinical findings and persistence rates were compared between subgroups by SPSSv26.</p><p><strong>Results: </strong>Of 5084 EEG traces, 63 (1.3%) from 35 patients with ECS and related EEG findings were included, with a mean age of 21.28 ± 8.38 years, and 68.6% of them were female. ECS was present in 85.7% of the patients, while 14.3% had eye-closed sensitivity, of which 11.1% had FOS. In the cohort, 25.7% had focal epilepsy, whereas 74.3% had generalized epilepsy. The most frequent generalized epilepsy syndrome was epilepsy with eyelid myoclonia (EEM) in 25.7%. Genetic etiology was disclosed in one patient with propionic acidemia, and another had chromosomal duplication at 8p11.21q11.1. ECS was exacerbated by hyperventilation, awakening, and intermittent photic stimulation. Photoparoxysmal response (PPR) was more frequently associated with ECS than with eye-closed sensitivity (95% vs. 5%, respectively). Although the persistence rates (mean: 47.7% ± 8.3%) did not significantly differ with respect to clinical outcomes (18% vs. 21%, p = .33), age was negatively correlated with this ratio (r = -.521, p = .002).</p><p><strong>Significance: </strong>Eye closure sensitivity and related sensitivities in EEG exhibit heterogeneity across epileptic syndromes and prognosis. Investigating ECS within the framework of the latest epilepsy syndrome classification, alongside co-occurrences of other activation methods, and calculating persistence rates may offer valuable insights for future genetic research and long-term management.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676949","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}

{"title":"Regional epilepsy: Unraveling the epileptic phenomenon.","authors":"Shreyashish Roy-Chowdhury, Elma Paredes-Aragon, Richard S McLachlan, Jorge G Burneo, David A Steven, Ana Suller Marti","doi":"10.1002/epd2.70007","DOIUrl":"https://doi.org/10.1002/epd2.70007","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617667","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}

{"title":"Asymmetrical limb dystonia and hypokinesia in anti-Ma2-associated encephalitis.","authors":"Chia-Yen Lin, Hsin Tung","doi":"10.1002/epd2.70009","DOIUrl":"10.1002/epd2.70009","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607062","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}

{"title":"Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications.","authors":"Muhittin Ozcan, Seda Kanmaz, Erdem Simsek, Dilara Ece Toprak, Cemile Büsra Olculu, Tugce Ince, Ozlem Yılmaz, Yavuz Atas, Gursel Sen, Ayca Aykut, Asude Durmaz, Hüseyin Onay, Sanem Yılmaz, Hasan Tekgul","doi":"10.1002/epd2.70012","DOIUrl":"https://doi.org/10.1002/epd2.70012","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.</p><p><strong>Methods: </strong>A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.</p><p><strong>Results: </strong>Molecular diagnoses were obtained in 110 patients (85.9%) using NGS and in 18 (14.1%) using chromosome-based tests, identifying pathogenic genetic variants. The most frequently identified genetic variants were SCN1A (12.2%), TSC1-2 (12.2%), ALDH7A1 (10.2%), CDKL5 (10.2%), KCNQ2 (10%), and STXBP1 (6.1%) in the neonatal- and early infantile-onset group (0-3 months); SCN1A (25.3%), TSC1-2 (11.3%), UBE3A (10.1%), and STXBP1 (3.7%) in the late infantile-onset group (>3 months). A molecular-etiopathogenetic categorization was based on the genes encoding ion channels and transporters (n = 40, 31.2%), proteins with cell functions (n = 42, 32.8%), proteins and enzymes in metabolic pathways (n = 36, 28.2%), and an undefined group (n = 10, 7.8%). The molecular-genetic diagnostic provided a potential treatment yield of 61.7% (79/128) for targeted therapy with antiseizure modification/precision therapy. The targeted therapy group demonstrated lower rates of drug-resistant epilepsy (46.7%) and developmental and epileptic encephalopathy (82.3%).</p><p><strong>Significance: </strong>The current study emphasizes the value of genetic testing in enabling the management of targeted therapies in the context of antiseizure medication modifications or precision therapy implications in the presented NIGEP cohort, contributing to more favorable outcomes.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607078","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}

{"title":"Semiology of seizures with temporo-polar or “medio-lateral” temporal origin: A systematic review","authors":"Andreas Schulze-Bonhage,&nbsp;Victoria San Antonio-Arce","doi":"10.1002/epd2.20329","DOIUrl":"10.1002/epd2.20329","url":null,"abstract":"<p>A systematic review using PRISMA criteria was used to review the literature regarding the specific semiology of seizure arising (a) from the temporal pole or (b) from both medial and lateral temporal cortex. Evidence was analyzed with regard to information provided by intracranial EEG recordings and surgical outcomes, and an estimation of validity of reported signs and symptoms was performed. Semiology of seizures originating from the temporal pole was mostly related to diverse patterns of ictal spread rather than to the localization of seizure origin and comprised a wide variety of early signs and symptoms. Seizures with rapid involvement of temporo-medial and temporo-lateral cortex were intermediate in semiology between medial and lateral onset seizures and may have more frequently early automatisms and early vocalization than seizures arising from temporo-medial or temporo-lateral cortex only. Results of this review are discussed as to limiting factors of origin-based analyses for the understanding of seizure semiology.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"187-195"},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20329","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617672","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}

{"title":"ILAE neuroimaging task force highlight: The utility of multimodal neuroimaging in diagnostic and presurgical workup of drug-resistant focal epilepsy.","authors":"Niccolò Biagioli, Maksim Parfyonov, Stefano Meletti, Giacomo Pavesi, John Archer, Boris C Bernhardt, Lorenzo Caciagli, Fernando Cendes, Yotin Chinvarun, Luis Concha, Paolo Federico, William D Gaillard, Eliane Kobayashi, Godwin Ogbole, Stefan Rampp, Shuang Wang, Gavin P Winston, Irene Wang, Anna Elisabetta Vaudano","doi":"10.1002/epd2.70016","DOIUrl":"10.1002/epd2.70016","url":null,"abstract":"<p><p>The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy, consistent with ILAE's educational mission. In patients with drug-resistant focal epilepsy who are candidates for surgical intervention, the identification of structural abnormalities is a strong predictor of favorable postoperative seizure outcomes. When conventional imaging is insufficient, the integration of multimodal neuroimaging data with structural, metabolic, and functional imaging modalities is often helpful. The following two illustrative cases from two different centers highlight the challenges and needs to integrate the information from multiple imaging modalities for a more accurate diagnosis and resection planning of drug-resistant focal epilepsies. This approach can increase the number of patients eligible for surgery while minimizing the risk of postoperative deficits.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607074","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}

{"title":"Phenotype, outcome, interleukins, and miRNA levels assessment of new-onset refractory status epilepticus: A prospective cohort study.","authors":"Sharath Adiga, Ravindranadh Chowdary Mundlamuri, Hemanthkumar Thanappa, Gejo Gangadharan, Nandakumar Dalavaikodihalli Nanajaiah, Ajay Asranna, L G Viswanathan, Kenchaiah Raghavendra, P V Prathyusha, Karthik Kulanthaivelu, Sanjib Sinha","doi":"10.1002/epd2.70011","DOIUrl":"https://doi.org/10.1002/epd2.70011","url":null,"abstract":"<p><strong>Objectives: </strong>New-onset refractory status epilepticus (NORSE), a subtype of status epilepticus, poses a critical neurological emergency marked by considerable morbidity and mortality. This study aimed to characterize NORSE phenotypically and assess its outcomes, interleukin levels, and miRNA levels.</p><p><strong>Methods: </strong>Over a 3-year period, patients presenting with NORSE were enrolled. Clinical data were documented, and serum and cerebrospinal fluid (CSF) were collected for inflammatory marker analysis. Results were compared with matched controls, and statistical analyses were conducted.</p><p><strong>Results: </strong>The study comprised 37 patients (M: F-22: 15), with a median age of 23 (IQR: 14-31) years at presentation. The median hospital stay was 22 days, with an in-hospital mortality rate of 32%, and 51% of patients experienced poor outcomes at discharge. Approximately 62% required anesthetic agents and immunomodulators for seizure control, and 42% of survivors developed epilepsy during a mean 9-month follow-up. Serum and CSF levels of IL-6 and IL-8 were elevated in cases compared to controls, though serum IL-8 levels did not reach statistical significance. Levels of miRNA 132 and miRNA 134 were lower in cases than controls, but statistical analysis was limited by sample size.</p><p><strong>Significance: </strong>NORSE represents a grave neurological emergency with substantial mortality and morbidity as well as the development of epilepsy during follow-up. The study indicates upregulation of certain interleukins and downregulation of specific miRNA in the serum and CSF of NORSE patients, yet further investigation is warranted to establish correlations with prognosis, treatment response, and outcomes.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568761","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}

{"title":"Sick sinus syndrome diagnosed through an electrocardiogram on an electroencephalogram.","authors":"Daeyoung Kim, Wankiun Lee","doi":"10.1002/epd2.70013","DOIUrl":"https://doi.org/10.1002/epd2.70013","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568763","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}

{"title":"Successful seizure control with cenobamate in juvenile myoclonic epilepsy","authors":"Dalma Tényi,&nbsp;Réka Horváth,&nbsp;József Janszky","doi":"10.1002/epd2.20339","DOIUrl":"10.1002/epd2.20339","url":null,"abstract":"&lt;p&gt;Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsy (IGE).&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Although 80%–92% of patients can achieve long-term seizure freedom with pharmacotherapy, pharmacoresistance still remains a major challenge.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; We present a patient's case with severe drug-resistant JME, who became seizure-free after the administration of a new antiseizure medication (ASM), cenobamate&lt;span&gt;&lt;sup&gt;3, 4&lt;/sup&gt;&lt;/span&gt; as a rescue therapy with a follow-up of 2 years. This is the first report on the application of cenobamate in JME, and a noteworthy thereof, since a 100% reduction rate could be reached regarding generalized tonic–clonic seizures (GTCS).&lt;/p&gt;&lt;p&gt;The patient is a 28-year-old female with normal birth and psychomotor development, with no known epilepsy risk factors. Family history regarding epilepsy is negative. Apart from congenital divergent strabism, neurological physical examination is normal. Seizure onset was at the age of 18 years, when she suffered a GTCS. Shortly after, upper extremity myoclonic seizures appeared upon awakening on a daily basis. Triggering factors were menstruation, flickering lights, sleep deprivation, and alcohol consumption. Routine EEG was normal. EEG after sleep deprivation showed normal background activity and sleep structure with infrequent interictal 1–2 s long and even prolonged (5–10 s long) bursts with 3–3.5 Hz spike–wave and polyspike–wave complexes (Figure 1). Epilepsy protocol brain MRI was normal. The diagnosis of JME was established, slow titration of lamotrigine was started together with valproate. Reaching the therapeutic dose of lamotrigine, valproate was tapered off; however, it had to be re-added due to incomplete seizure control, without any significant improvement, though. In the subsequent years, levetiracetam, brivaracetam, zonisamide, felbamate, clobazam, and acetazolamide were introduced as either monotherapy or as add-on medication (Table S1); the patient was hospitalized repeatedly because of GTCSs. Regarding myoclonic seizures, no significant seizure reduction could be achieved with either medication. Average frequency of GTCSs was 2-3/month, myoclonic seizures appeared every day. In 2022, she was admitted to our video-EEG monitoring unit for further evaluation. During monitoring, normal background activity and physiological sleep structure were recorded with infrequent interictal 3–3.5 Hz spike–wave paroxysms and photomyoclonic response during photic stimulation. GTCS did not occur. Repeatedly performed epilepsy protocol brain MRI was normal. These results fortified a diagnosis of pharmacoresistant JME. Given the frequently occurring GTCS-associated increased risk of injury and sudden unexpected death, and since the patient preferred a last pharmacological attempt before neuromodulation therapy and perampanel was unavailable in Hungary that time, the off-label use of cenobamate as add-on therapy to lamotrigine–valproate–","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"307-310"},"PeriodicalIF":1.9,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20339","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558710","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}