Epileptic Disorders最新文献

{"title":"A video case vignette: Persignation or sign of the cross as an ictal manifestation in a woman with temporal lobe epilepsy","authors":"Anilú Daza-Restrepo,&nbsp;Roxana Matus-Mayorga,&nbsp;Stephanie Pino,&nbsp;Nuria Cámpora,&nbsp;Alejandro Nasimbera,&nbsp;Manuela Villanueva,&nbsp;Luis Rivas,&nbsp;Vanessa Gómez,&nbsp;Silvia Oddo,&nbsp;Silvia Kochen,&nbsp;Brenda Giagante","doi":"10.1002/epd2.20307","DOIUrl":"10.1002/epd2.20307","url":null,"abstract":"<p>Content available: Video.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"117-120"},"PeriodicalIF":1.9,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631864","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":"Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants","authors":"Nada Amllal,&nbsp;Jaber Lyahyai,&nbsp;Lamiae Afif,&nbsp;Yamna Kriouile,&nbsp;Abdelaziz Sefiani,&nbsp;Siham Chafai Elalaoui","doi":"10.1002/epd2.20306","DOIUrl":"10.1002/epd2.20306","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"114-116"},"PeriodicalIF":1.9,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607449","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":"ILAE-sponsored EEG education: Which course is right for me?","authors":"Anthony Khoo","doi":"10.1002/epd2.20309","DOIUrl":"10.1002/epd2.20309","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"139-140"},"PeriodicalIF":1.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583547","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":"CHD2-related epilepsy with eyelid myoclonia: Report of three cases","authors":"Hannah Padilla,&nbsp;Filippo Pinto e Vairo,&nbsp;Elaine C. Wirrell,&nbsp;Lily C. Wong-Kisiel,&nbsp;Anthony L. Fine,&nbsp;Brendan C. Lanpher,&nbsp;Kelsey M. Smith","doi":"10.1002/epd2.20305","DOIUrl":"10.1002/epd2.20305","url":null,"abstract":"<p>The aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with <i>CHD2</i> pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with <i>CHD2</i> variants. The medical records of those identified were reviewed to describe their presentation, treatment, and clinical course. Three patients (2 males, 1 female) with EEM were found to harbor de novo <i>CHD2</i> pathogenic variants (c.2636C&gt;T p.(Ala879Val), c.3734delA p. (Lys1245Asnfs*4), and c.3896delTinsCG p. (Val1299Alafs*5)). All three patients had comorbid autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit disorder (ADHD). Eyelid myoclonia was a prominent seizure type that persisted in the three patients despite trials of multiple antiseizure medications. Generalized tonic–clonic seizures occurred in two of the patients but were controlled with antiseizure medications. Genetic testing should be considered in patients presenting with EEM, especially when ADHD, ID, ASD, and drug-resistant seizures are present. Further understanding of the relationship between <i>CHD2</i> variants and epileptogenesis may provide important insights into the pathogenesis of EEM.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"90-95"},"PeriodicalIF":1.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583545","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":"A case of temporal lobe cavernoma causing epileptic spasms that resolved with surgical resection","authors":"Veeresh Kumar N. Shivamurthy,&nbsp;Jonathan Gursky,&nbsp;Elissa Yozawitz","doi":"10.1002/epd2.20295","DOIUrl":"10.1002/epd2.20295","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"100-102"},"PeriodicalIF":1.9,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523506","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":"Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency","authors":"C. Suyo,&nbsp;G. Reyes Valenzuela,&nbsp;S. Melgarejo,&nbsp;M. Loos,&nbsp;M. Juanes,&nbsp;M. S. Touzon,&nbsp;G. Angarita,&nbsp;M. Mesa,&nbsp;C. Alonso,&nbsp;R. Caraballo","doi":"10.1002/epd2.20302","DOIUrl":"10.1002/epd2.20302","url":null,"abstract":"<p>Developmental and epileptic encephalopathies (DEEs) are severe forms of epilepsy characterized by seizure onset in infancy or childhood. The seizures are typically drug-resistant and often accompanied by significant alterations in the electroencephalogram (EEG). DEEs are associated with neurodevelopmental impairment, which can arise from both the epileptic activity itself and the underlying etiology, which is most often genetic in origin. We present the clinical and molecular features of two patients with DEE associated with a pathogenic variant in the <i>UGDH</i> gene. This gene encodes a protein that converts uridine diphosphate (UDP)-glucose into UDP-glucuronate, which plays a crucial role in the biosynthesis of glycosaminoglycans, essential components of the connective tissue and extracellular matrix. Both patients started with epileptic spasms associated with a pattern of hypsarrhythmia in the EEG at 4 months of age. Both developed global developmental delay and the physical examination revealed hypotonia and mildly dysmorphic features. In both families, there was another affected sibling with a similar clinical presentation, although genetic studies were not performed in one of these children. A homozygous pathogenic variant in the <i>UGDH</i> gene, NM_003359.4:c.131C&gt;T – p.(Ala44Val), previously reported to be associated with the described phenotype, was identified.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"82-89"},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512241","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":"The curious case of the gene, the lesion, or neither","authors":"Alexander Freibauer,&nbsp;Bashayer Almohaimeed,&nbsp;Anita Datta","doi":"10.1002/epd2.20293","DOIUrl":"10.1002/epd2.20293","url":null,"abstract":"&lt;p&gt;With increased availability of genetic testing, more patients have been identified as having causative variants. With a greater amount of diagnostic certainty, there is uncertainty in its consideration in epilepsy surgery workup. We report a case of a boy with a &lt;i&gt;GRIN2B&lt;/i&gt; likely pathogenic variant, with medically refractory epilepsy who underwent epilepsy surgery evaluation, resulting in successful surgical resection with good outcome.&lt;/p&gt;&lt;p&gt;Our patient is a 15-year-old right-handed man, with seizure onset at three years of age. In the first six years of life, he had generalized tonic–clonic and myoclonic seizures that subsequently resolved. Since age seven, he has had medically refractory seizures characterized by a nonspecific aura, followed by repetition of a stereotyped phrase progressing to oral automatisms, right-sided head version, followed by right arm flexion and right-hand posturing. He was medically refractory on appropriate doses of lacosamide and lamotrigine and had previously failed nine other anti-seizure medications.&lt;/p&gt;&lt;p&gt;His past medical history is significant for depression, mild intellectual disability, attention difficulties, and behavioral dysregulation. His birth history was unremarkable. Family history was unremarkable. Initial EEG showed slowing and interictal discharges over the left temporal region. During EEG, a typical seizure was captured, with EEG onset of rhythmic delta over the left temporal chain (Figure 1A). MRI brain showed a lesion in the right occipitotemporal cortex, consistent with a multi nodular and vacuolating neuronal tumor (MVNT) (Figure 1B). A PET scan showed hypometabolism at the left temporal pole and medial temporal cortex. Subtraction SPECT showed increased perfusion to the left temporal pole. Whole exome sequencing identified a de novo heterozygous likely pathogenic &lt;i&gt;GRIN2B&lt;/i&gt; variant (p. Cys946Ter).&lt;/p&gt;&lt;p&gt;Although the epileptogenic zone seemingly localized to the left temporal region, the epileptogenic lesion was incongruent. Intracranial electroencephalography through stereotactic electrodes was performed to clarify this inconsistency. Although the patient's genetic variant likely explained his intellectual disability and seizures, as his seizures remained stereotyped and focal, he was still considered a possible surgical candidate.&lt;/p&gt;&lt;p&gt;Stereotactic electrodes were implanted with seven electrodes sampling the left hemisphere, and two electrodes in the right hemisphere, as demonstrated in Figure 2. Interictal activity was most prominent from the left temporal inferior gyrus and hippocampus. Six clinical seizures were captured, all with onset from the left hippocampus. Following explantation, clinical consensus was that the epileptogenic zone involved the left hippocampus, and a left temporal lobectomy was performed, guided by electrocorticography. Surgical pathology showed no evidence of a definitive primary epileptogenic process. Following surgery, the patient was seizure-free at 11","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"96-99"},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20293","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512240","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":"Ictal sign of the cross: A case report and a short literature review","authors":"Emilie Drion,&nbsp;Cristina Filipescu,&nbsp;Marc Zanello,&nbsp;Alessandro Moiraghi,&nbsp;Charles Mellerio,&nbsp;Benoît Crépon,&nbsp;Eléonore Guinard,&nbsp;Magali Boutin-Watine,&nbsp;Hajar Selhane,&nbsp;Estelle Pruvost-Robieux,&nbsp;Grégoire Demoulin,&nbsp;Johan Pallud,&nbsp;Elisabeth Landré,&nbsp;Martine Gavaret","doi":"10.1002/epd2.20303","DOIUrl":"10.1002/epd2.20303","url":null,"abstract":"<p>Content available: Video.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"106-110"},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512239","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":"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,&nbsp;Eleonora Aronica,&nbsp;Sandor Beniczky,&nbsp;Danielle Boyce,&nbsp;Gianpiero Cavalleri,&nbsp;Spiros Denaxas,&nbsp;Jacqueline French,&nbsp;Lara Jehi,&nbsp;Hyunyong Koh,&nbsp;Patrick Kwan,&nbsp;Carrie McDonald,&nbsp;James W. Mitchell,&nbsp;Stefan Rampp,&nbsp;Lynette Sadleir,&nbsp;Sanjay M. Sisodiya,&nbsp;Irene Wang,&nbsp;Samuel Wiebe,&nbsp;Clarissa Yasuda,&nbsp;Brett Youngerman,&nbsp;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}

{"title":"A unique case of tactile-induced reflex myoclonic epilepsy of infancy evolving into childhood absence epilepsy","authors":"Jeffrey Rodgers,&nbsp;Sonal Bhatia","doi":"10.1002/epd2.20301","DOIUrl":"10.1002/epd2.20301","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"103-105"},"PeriodicalIF":1.9,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479725","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}