Epileptic Disorders最新文献

{"title":"The \"chapeau de gendarme\" sign in focal epilepsy: A systematic review.","authors":"Katharina Moser, Dorottya Cserpan, Antonio Giulio Gennari, Andrea Rüegger, Francine Chassoux, Georgia Ramantani","doi":"10.1002/epd2.70048","DOIUrl":"https://doi.org/10.1002/epd2.70048","url":null,"abstract":"<p><p>The \"chapeau de gendarme\" sign, also known as \"ictal pouting,\" is a distinctive facial expression observed in focal epilepsy, characterized by a turned-down mouth with symmetrical lip and chin contraction. This systematic review investigates its clinical relevance, anatomical origins, and diagnostic value, particularly in presurgical evaluation. The sign is most commonly associated with mesial frontal epilepsy, particularly involving the anterior cingulate cortex (ACC), though moderate evidence links it to a broader network including insulo-opercular and temporo-parietal regions. Variability in semiologic descriptions and the absence of standardized definitions present challenges to its consistent recognition. Focal cortical dysplasia (FCD) was identified as the most frequent pathological substrate linked to this sign, particularly in MRI-positive cases, while nearly half of the reviewed cases were MRI-negative emphasizing the importance of localizing signs such as the \"chapeau de gendarme\" in cases of suspected FCD. FDG-PET consistently showed hypometabolism in relevant regions, supporting its utility in identifying the epileptogenic zone in MRI-negative cases. The propagation of ictal discharges across interconnected brain regions highlights the involvement of specific network dynamics in generating this semiology. The \"chapeau de gendarme\" sign holds significant value in presurgical evaluations, particularly as part of a multimodal assessment integrating neuroimaging and electrophysiological data. Despite the descriptive nature of included studies and limited photo documentation, the sign remains a valuable diagnostic tool. Further research is needed to standardize reporting and clarify its role in guiding surgical management, especially in MRI-negative focal epilepsy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152786","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":"Beyond seizures: The genetic mystery of paroxysmal kinesigenic dyskinesia.","authors":"Jivan Morey, Kamalesh Tayade, Haresh Bharote, Dnyaneshwar Asole, Anil Venkitachalam, Anarya Karle, Amarnath Chavan","doi":"10.1002/epd2.70043","DOIUrl":"https://doi.org/10.1002/epd2.70043","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152777","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":"Continuing medical education in epileptology: The Level 1-2-3 experience of the ILAE academy.","authors":"Ingmar Blümcke, Eva Biesel, Samuel Wiebe, Sandor Beniczky, Jo M Wilmshurst, Man Mohan Mehndiratta, Ali A Asadi-Pooya, Christian Brandt, Alexis Arzimanoglou, Gagandeep Singh","doi":"10.1002/epd2.70045","DOIUrl":"https://doi.org/10.1002/epd2.70045","url":null,"abstract":"<p><p>The International League Against Epilepsy (ILAE) Academy is the world's eminent e-learning campus for epileptology. Its modular teaching content was developed to cover all competencies and learning objectives specified in the ILAE's curriculum for epileptology. The tutorless and self-paced entry Level 1 program for beginners offers an interactive case-based e-learning approach. A blended e-learning format was developed for the proficiency Level 2 with various learning domains and formats. They comprise a series of interactive, self-paced and case-based e-learning modules covering common, but also rare or complex epilepsy conditions, through state-of-the-art diagnosis and rational treatment decisions. Interactive EEG and MRI readers were integrated to support a tutorless online teaching format. An innovative adaptive e-learning format was applied for specific learning domains to reflect not only the proficiency level of the learner but also their self-confidence and perceived and unperceived knowledge of the topic. Our analysis of the completed adaptive e-learning courses revealed that 21% of the learning objectives had been answered incorrectly despite the learner indicating that they know the answer. This so-called \"unconscious incompetence\" should be regarded as a key motivation for building continuing medical education (CME) programs in epileptology. Level 2 utilizes a blended learning approach requiring 200 CME or equivalent ILAE credit points, earned through a mix of online learning with in-person participation in ILAE schools and congressional teaching activities. Level 3 is the subsequent step in the ILAE's structured learning path towards advanced proficiency and includes skill-based training in epileptology. Registered learners can apply for training visits in internationally renowned epilepsy centers around the world. Limited financial support is made available for selected applicants, e.g., to support candidates from resource limited settings. Designed to bridge the gap in knowledge and access to continuing education in epileptology, this unique structured learning path is open to all healthcare professionals.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152780","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":"Co-occurrence of childhood absence epilepsy and self-limited focal epilepsy interictal discharges: Differences from childhood absence epilepsy alone.","authors":"Giulia Barbagallo, Giulia Nobile, Maria Grazia Calevo, Giulia Prato, Lino Nobili, Edoardo Canale, Maria Margherita Mancardi","doi":"10.1002/epd2.70044","DOIUrl":"https://doi.org/10.1002/epd2.70044","url":null,"abstract":"<p><strong>Objective: </strong>Some children with Childhood Absence Epilepsy (CAE) exhibit focal abnormalities similar to those observed in Self-Limited Focal Epilepsies of Childhood (SeLFEs). It remains unclear whether this subgroup of patients may present distinct clinical characteristics or prognoses compared to those with CAE and generalized discharges alone. In this study, we retrospectively evaluated the electroclinical features of patients with CAE plus focal abnormalities and compared them with those with CAE lacking focal abnormalities.</p><p><strong>Methods: </strong>We included children diagnosed with absence epilepsy with onset before the age of 10 years and normal neuropsychomotor development prior to seizure onset. These patients were evaluated and followed up at our Institute between January 2013 and January 2023.</p><p><strong>Results: </strong>Fifteen out of 100 patients with CAE (15%) exhibited focal epileptiform abnormalities characteristic of SeLFEs. In 6 cases (40%), focal interictal epileptiform discharges (IEDs) emerged only after the resolution of absences during routine electroencephalograms (EEGs), while in 9 cases (60%), they occurred concurrently with generalized discharges in the same EEG. Three patients experienced clinical seizures associated with both syndromes, and one of them displayed during the same recording a focal seizure immediately followed by an absence seizure. Patients with both generalized and focal epileptiform abnormalities (CAE plus SeLFE-IEDs/SeLFEs) showed similar outcomes compared to those with generalized abnormalities alone, but they had an earlier age at absence onset (4.3 years vs. 5.7 years, p = 0.03), an increased occurrence of automatisms during absence seizures (50% vs. 17.5%, p = 0.02), and required a higher number of antiepileptic drugs to control absences (average 2.1 vs. 1.4, p = 0.002).</p><p><strong>Significance: </strong>CAE and SeLFEs share several features, and their coexistence or sequential evolution in clinical practice is not uncommon. This overlap may suggest common pathophysiological mechanisms involving cortico-thalamo-cortical circuits.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144135880","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":"Responsive neurostimulation detections: \"Recognizing the unseen\".","authors":"Aden P Haskell-Mendoza, Praveen Ramani, Roshni Dhoot, Prachi Parikh, Birgit Frauscher, Saurabh R Sinha, Carrie R Muh, Derek Southwell, Aatif Husain, Shruti Agashe","doi":"10.1002/epd2.70049","DOIUrl":"https://doi.org/10.1002/epd2.70049","url":null,"abstract":"<p><strong>Background: </strong>Closed-loop responsive neurostimulation (RNS) is an established non-resective neuromodulatory therapy for individuals with drug-resistant epilepsy (DRE). RNS systems are typically programmed to detect and respond to predefined seizure onset patterns, with detector settings often remaining unchanged for extended periods.</p><p><strong>Aims: </strong>To describe the delayed recognition of a novel seizure onset pattern in the acute and chronic clinical settings.</p><p><strong>Methods: </strong>The case of a 35-year-old female with history of drug-refractory temporal lobe epilepsy who presented with increasing seizure frequency and headaches was reviewed.</p><p><strong>Results: </strong>We demonstrate emergence of a new seizure onset pattern in a 35-year-old female with DRE who had undergone RNS implantation 5.5 years prior to presentation. Guided primarily by strong clinical suspicion, with live electrocorticography (ECoG) serving as a confirmatory tool, we identified a previously unrecognized seizure onset pattern linked to a rare, delayed intraparenchymal hemorrhage associated with an RNS lead. Longitudinal ECoG analysis in this patient, who experienced over a 95% reduction in seizures since implantation, revealed evolving seizure patterns over several years that contributed to delayed detections.</p><p><strong>Conclusion: </strong>This case underscores the risk of misdiagnosis when acute changes in seizure patterns occur, in the context of detections programmed to identify specific patterns. Longitudinal analysis of ECoG in the same patient showed changes in seizure patterns over several years that were detected with delay, highlighting importance of vigilant detection monitoring.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144135905","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":"Lateralizing value of ictal head turning: A systematic review and meta-analysis.","authors":"Melita Cacic Hribljan, Georg Zimmermann, Sándor Beniczky","doi":"10.1002/epd2.70046","DOIUrl":"https://doi.org/10.1002/epd2.70046","url":null,"abstract":"<p><strong>Objective: </strong>To elucidate the lateralizing value of ictal head turning in focal epilepsy and provide guidance for interpreting ictal semiology within the framework of presurgical evaluation.</p><p><strong>Methods: </strong>We conducted a systematic review of ictal head turning. We included studies reporting ictal head turning (versive, nonversive, and gyration) captured in video-EEG recordings during presurgical evaluation. We assessed potential selection and assessment bias and evaluated confidence in the epileptogenic zone based on reported comparators-including resection site and surgical outcomes, intracerebral EEG, and MRI findings. Studies were classified as high quality if potential bias was low and confidence in the epileptogenic zone was high.</p><p><strong>Results: </strong>Versive head turning is usually contralateral to the epileptogenic zone (high level of evidence). Nonversive head turning is most often ipsilateral to the epileptogenic zone in temporal lobe epilepsy (high level of evidence) and contralateral in occipital lobe epilepsy (moderate level of evidence). In frontal lobe epilepsy, the lateralization of nonversive head turning may vary based on sub-lobar localization, but high-level evidence is lacking. Gyratory seizures are likely contralateral when initiated by versive head turning and evolving into focal-to-bilateral tonic-clonic seizures; in other cases, they may be ipsilateral, particularly in temporal and mesial frontal epilepsy, but the available evidence is insufficient for a definitive conclusion.</p><p><strong>Significance: </strong>The lateralizing value of ictal head turning depends on its specific characteristics and clinical context.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129481","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":"Pontine hyperperfusion associated with ictal central apnea.","authors":"Vasileios Kokkinos, Stephen A VanHaerents, Cody L Nathan, Dina Ghandour, Ryan J Avery, Stephan U Schuele","doi":"10.1002/epd2.70047","DOIUrl":"https://doi.org/10.1002/epd2.70047","url":null,"abstract":"<p><p>We report ictal SPECT findings in a patient with focal epilepsy and ictal central apnea (ICA). We describe the history, EEG findings, and SPECT analysis of a 38-year-old female with left posterior quadrant epilepsy post intracerebral hemorrhage due to ruptured aneurysm, whose seizures are accompanied by ICA. The patient underwent continuous EEG monitoring as a presurgical candidate for her epilepsy, during which several typical seizures associated with ICA were captured. Ictal SPECT was performed during a typical seizure with ICA, with tracer administration 15 s after the ICA onset, 14 s after the EEG onset, 7 s after the first video-appreciated clinical change, and 24 s before evolution to focal-to-bilateral tonic-clonic seizure. Ictal SPECT revealed significant hyperperfusion in the anterior pons with mild left > right lateralization. Ictal SPECT hereby demonstrates the potential to highlight ICA-associated regions in patients with focal epilepsy. Vigilance for similar imaging markers is recommended in centers that have access to SPECT without incorporating respiratory monitoring during routine EMU procedures, as pontine hyperperfusion may suggest underlying ICA and considerable risk of sudden unexpected death in epilepsy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129483","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":"Focal aware seizures manifesting as restless legs syndrome-like symptoms in a patient with periodic limb movement disorder.","authors":"Ammar Rasul, Ashar M Farooqi, Jon D Peters, Yong Won Cho, Gholam K Motamedi","doi":"10.1002/epd2.70041","DOIUrl":"https://doi.org/10.1002/epd2.70041","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129479","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":"Ictal asystole and ictal syncope must be differentiated from neurally mediated syncope.","authors":"Ryota Sasaki, Masako Kinoshita, Nahomi Osugi, Nagisa Yasuda, Mirei Hara, Kentaro Tamura, Kiyoshi Nagata, Ichiro Nakagawa","doi":"10.1002/epd2.70042","DOIUrl":"https://doi.org/10.1002/epd2.70042","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112726","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":"Uncoupling in a child with tonic seizures.","authors":"Émilie Groulx-Boivin, Kenneth A Myers","doi":"10.1002/epd2.70039","DOIUrl":"https://doi.org/10.1002/epd2.70039","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112727","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}