Colin B. Josephson, Eleonora Aronica, Sandor Beniczky, Danielle Boyce, Gianpiero Cavalleri, Spiros Denaxas, Jacqueline French, Lara Jehi, Hyunyong Koh, Patrick Kwan, Carrie McDonald, James W. Mitchell, Stefan Rampp, Lynette Sadleir, Sanjay M. Sisodiya, Irene Wang, Samuel Wiebe, Clarissa Yasuda, Brett Youngerman, the ILAE Big Data Commission
{"title":"Big data research is everyone's research—Making epilepsy data science accessible to the global community: Report of the ILAE big data commission","authors":"Colin B. Josephson, Eleonora Aronica, Sandor Beniczky, Danielle Boyce, Gianpiero Cavalleri, Spiros Denaxas, Jacqueline French, Lara Jehi, Hyunyong Koh, Patrick Kwan, Carrie McDonald, James W. Mitchell, Stefan Rampp, Lynette Sadleir, Sanjay M. Sisodiya, Irene Wang, Samuel Wiebe, Clarissa Yasuda, Brett Youngerman, the ILAE Big Data Commission","doi":"10.1002/epd2.20288","DOIUrl":"10.1002/epd2.20288","url":null,"abstract":"<p>Epilepsy care generates multiple sources of high-dimensional data, including clinical, imaging, electroencephalographic, genomic, and neuropsychological information, that are collected routinely to establish the diagnosis and guide management. Thanks to high-performance computing, sophisticated graphics processing units, and advanced analytics, we are now on the cusp of being able to use these data to significantly improve individualized care for people with epilepsy. Despite this, many clinicians, health care providers, and people with epilepsy are apprehensive about implementing Big Data and accompanying technologies such as artificial intelligence (AI). Practical, ethical, privacy, and climate issues represent real and enduring concerns that have yet to be completely resolved. Similarly, Big Data and AI-related biases have the potential to exacerbate local and global disparities. These are highly germane concerns to the field of epilepsy, given its high burden in developing nations and areas of socioeconomic deprivation. This educational paper from the International League Against Epilepsy's (ILAE) Big Data Commission aims to help clinicians caring for people with epilepsy become familiar with how Big Data is collected and processed, how they are applied to studies using AI, and outline the immense potential positive impact Big Data can have on diagnosis and management.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"733-752"},"PeriodicalIF":1.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20288","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512238","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}
Silvana Calligaris, Matias Juanes, Maria S. Touzon, Lorena Altamirano, Mariana Loos, Gabriela Reyes Valenzuela, Vinicio Albino, Marisa Armeno, Roberto Caraballo
{"title":"Non-epileptic stimulus-sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene","authors":"Silvana Calligaris, Matias Juanes, Maria S. Touzon, Lorena Altamirano, Mariana Loos, Gabriela Reyes Valenzuela, Vinicio Albino, Marisa Armeno, Roberto Caraballo","doi":"10.1002/epd2.20290","DOIUrl":"10.1002/epd2.20290","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"892-894"},"PeriodicalIF":1.9,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479726","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}
Luca Bosisio, Maria Margherita Mancardi, Silvia Boeri, Lino Nobili, Giulia Nobile, Laura Siri, Giulia Prato, Edoardo Canale
{"title":"Subclinical rhythmic EEG discharge of adults (SREDA) in pediatric population: A case series with systematic review of the literature.","authors":"Luca Bosisio, Maria Margherita Mancardi, Silvia Boeri, Lino Nobili, Giulia Nobile, Laura Siri, Giulia Prato, Edoardo Canale","doi":"10.1002/epd2.20294","DOIUrl":"https://doi.org/10.1002/epd2.20294","url":null,"abstract":"<p><p>Subclinical rhythmic electrographic discharge of adults (SREDA) is one of the rarest and most challenging non-epileptic electroencephalographic variants. Although the pathogenesis of this activity is unclear, an association with vascular insufficiency and cerebral hypoxia has been proposed. SREDA usually occurs in adulthood, but there are few reports in the pediatric population. We performed a systematic review of the literature, confirming the rarity of this condition in children, and added 5 more subjects. We report on a total of 16 children with SREDA. Sufficient data are available for 15 patients. The mean age at first detection of SREDA was 11.5 years. We observed that 67% (10/15) of the subjects had previous seizures: 80% (8/10) of them had an epilepsy diagnosis and 38% (3/8) had generalized epilepsy. Moreover, 8 of 13 subjects whose medical history was available (61%) had a neurodevelopmental disorder. From an electroencephalographic point of view, we noted a prevalence of bilateral SREDA with atypical localization and abrupt onset and end. Since SREDA can be incorrectly interpreted as an epileptic discharge, with possible therapeutic implications, it is important to consider its possible occurrence also in pediatric patients, perhaps more frequently in those with neurodevelopmental disorders.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479727","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":"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}
Audrey Nguyen, Ralf Eberhard, Elisabeth Simard-Tremblay, Kenneth A. Myers
{"title":"Ictal asystole and increased ictal heart rate variability in PCDH19-related epilepsy","authors":"Audrey Nguyen, Ralf Eberhard, Elisabeth Simard-Tremblay, Kenneth A. Myers","doi":"10.1002/epd2.20281","DOIUrl":"10.1002/epd2.20281","url":null,"abstract":"<p>\u0000 <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 ","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}
{"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}
{"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}
Eivind Aanestad, Sándor Beniczky, Henning Olberg, Jan Brogger
{"title":"Unveiling variability: A systematic review of reproducibility in visual EEG analysis, with focus on seizures","authors":"Eivind Aanestad, Sándor Beniczky, Henning Olberg, 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 >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.</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}