Epileptic Disorders最新文献

Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants. 突显 SMC1A 截断变体的不同侧面：两名患有新型 SMC1A 致病变体的患者。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-11-08 DOI: 10.1002/epd2.20306

Nada Amllal, Jaber Lyahyai, Lamiae Afif, Yamna Kriouile, Abdelaziz Sefiani, Siham Chafai Elalaoui

引用次数: 0

ILAE-sponsored EEG education: Which course is right for me? ILAE 赞助的脑电图教育：哪种课程适合我？

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-11-06 DOI: 10.1002/epd2.20309

Anthony Khoo

引用次数: 0

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-11-06 DOI: 10.1002/epd2.20305

Hannah Padilla, Filippo Pinto E Vairo, Elaine C Wirrell, Lily C Wong-Kisiel, Anthony L Fine, Brendan C Lanpher, Kelsey M Smith

{"title":"CHD2-related epilepsy with eyelid myoclonia: Report of three cases.","authors":"Hannah Padilla, Filippo Pinto E Vairo, Elaine C Wirrell, Lily C Wong-Kisiel, Anthony L Fine, Brendan C Lanpher, Kelsey M Smith","doi":"10.1002/epd2.20305","DOIUrl":"10.1002/epd2.20305","url":null,"abstract":"The aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with CHD2 pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with CHD2 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 CHD2 pathogenic variants (c.2636C>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 CHD2 variants and epileptogenesis may provide important insights into the pathogenesis of EEM.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"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}

引用次数: 0

A case of temporal lobe cavernoma causing epileptic spasms that resolved with surgical resection. 一例颞叶海绵状瘤导致癫痫痉挛的病例，手术切除后症状缓解。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-28 DOI: 10.1002/epd2.20295

Veeresh Kumar N Shivamurthy, Jonathan Gursky, Elissa Yozawitz

引用次数: 0

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency. 两例与 UDP-葡萄糖-6-脱氢酶缺乏症有关的婴儿癫痫痉挛综合征家族病例。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-26 DOI: 10.1002/epd2.20302

C Suyo, G Reyes Valenzuela, S Melgarejo, M Loos, M Juanes, M S Touzon, G Angarita, M Mesa, C Alonso, R Caraballo

{"title":"Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.","authors":"C Suyo, G Reyes Valenzuela, S Melgarejo, M Loos, M Juanes, M S Touzon, G Angarita, M Mesa, C Alonso, R Caraballo","doi":"10.1002/epd2.20302","DOIUrl":"https://doi.org/10.1002/epd2.20302","url":null,"abstract":"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 UGDH 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 UGDH gene, NM_003359.4:c.131C>T - p.(Ala44Val), previously reported to be associated with the described phenotype, was identified.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"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}

引用次数: 0

The curious case of the gene, the lesion, or neither. 基因、病变或两者皆非的奇特案例。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-26 DOI: 10.1002/epd2.20293

Alexander Freibauer, Bashayer Almohaimeed, Anita Datta

引用次数: 0

Ictal sign of the cross: A case report and a short literature review. 十字架内侧征：一份病例报告和简短的文献综述。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-26 DOI: 10.1002/epd2.20303

Emilie Drion, Cristina Filipescu, Marc Zanello, Alessandro Moiraghi, Charles Mellerio, Benoît Crépon, Eléonore Guinard, Magali Boutin-Watine, Hajar Selhane, Estelle Pruvost-Robieux, Grégoire Demoulin, Johan Pallud, Elisabeth Landré, Martine Gavaret

引用次数: 0

Big data research is everyone's research-Making epilepsy data science accessible to the global community: Report of the ILAE big data commission. 大数据研究是每个人的研究--让全球社会都能利用癫痫数据科学：国际癫痫协会大数据委员会的报告。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-24 DOI: 10.1002/epd2.20288

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

{"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","doi":"10.1002/epd2.20288","DOIUrl":"https://doi.org/10.1002/epd2.20288","url":null,"abstract":"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.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A unique case of tactile-induced reflex myoclonic epilepsy of infancy evolving into childhood absence epilepsy. 一例由触觉诱发的婴儿反射性肌阵挛性癫痫演变为儿童失神性癫痫的独特病例。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-22 DOI: 10.1002/epd2.20301

Jeffrey Rodgers, Sonal Bhatia

引用次数: 0

Non-epileptic stimulus-sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene. 一名患有与 SCN8A 基因相关的发育性和癫痫性脑病的新生儿出现非癫痫性刺激敏感性肌阵挛。

IF 1.9 4区医学

Epileptic Disorders Pub Date : 2024-10-21 DOI: 10.1002/epd2.20290

Silvana Calligaris, Matias Juanes, Maria S Touzon, Lorena Altamirano, Mariana Loos, Gabriela Reyes Valenzuela, Vinicio Albino, Marisa Armeno, Roberto Caraballo

引用次数: 0