Epileptic Disorders最新文献

{"title":"Determinants of health-related quality of life of patients with focal epilepsy: A systematic literature review.","authors":"Pamela Engelhart, Caleb Marcin, Jason Lerner, David Dill, Gil L'Italien, Vlad Coric, Joyce Matsumoto, Michele H Potashman","doi":"10.1002/epd2.20292","DOIUrl":"https://doi.org/10.1002/epd2.20292","url":null,"abstract":"<p><strong>Objective: </strong>Focal epilepsy can have significant negative impacts on a person's health-related quality of life (HRQoL). Although studies have been published on HRQoL in persons with focal epilepsy (PWFE), determinants of HRQoL have not been comprehensively examined. This systematic literature review (SLR) queried existing literature to identify aspects associated with HRQoL in PWFE without focus on resective epilepsy surgery, with an interest in identifying modifiable determinants for medical/nonmedical interventions.</p><p><strong>Methods: </strong>This SLR was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Searches were conducted in PubMed and Google Scholar for articles published from January 1, 1900, to February 19, 2023, reporting on the association between HRQoL or employability and a range of demographic, psychosocial, or epilepsy-related factors and comorbidities in PWFE.</p><p><strong>Results: </strong>A total of 879 abstracts were identified, with 126 manuscripts reviewed and 37 studies selected for inclusion that quantified the relationship between HRQoL and the variable of interest by multivariate (N = 21) or univariate only (N = 15) methods; 10 multivariate models also included univariate data. In adjusted models, the most commonly examined determinants of HRQoL included depression (n = 15/21), number of antiseizure medications (ASMs; n = 13/21), seizure frequency (continuous seizure count, n = 11/21; seizure freedom, n = 5/21), anxiety (n = 10/21), duration of disease (n = 9/21), and cognition (n = 9/21). Depression, anxiety, and cognition were frequently seen as significant contributors to HRQoL when studied (14/15 [93%], 9/10 [90%], and 7/9 [78%], respectively). Among concepts studied less frequently, ASM severity/adverse event burden was significant each time examined (in 5/19 studies). Attainment of seizure freedom and employability was significant 75% (n = 3/4) and 72% (n = 5/7) of the time, respectively.</p><p><strong>Significance: </strong>Poor HRQoL in PWFE can be attributed to a multitude of factors, including depression, anxiety, factors in disease management, and employability. An unmet need remains in addressing elements associated with poor HRQoL in this population.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640205","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":"Near SUDEP in a patient with craniosynostosis syndrome and temporal lobe encephaloceles.","authors":"Joseph Ta, Christopher Smith, Nyasia Mayaudon Finley, Martin Gallagher, Andre LaGrange, Kelly Lowen, Trevor Meyer, Vivek Ganesh, Jay V Shah, William Nobis","doi":"10.1002/epd2.20304","DOIUrl":"https://doi.org/10.1002/epd2.20304","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631866","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 video case vignette: Persignation or sign of the cross as an ictal manifestation in a woman with temporal lobe epilepsy.","authors":"Anilú Daza-Restrepo, Roxana Matus-Mayorga, Stephanie Pino, Nuria Cámpora, Alejandro Nasimbera, Manuela Villanueva, Luis Rivas, Vanessa Gómez, Silvia Oddo, Silvia Kochen, Brenda Giagante","doi":"10.1002/epd2.20307","DOIUrl":"https://doi.org/10.1002/epd2.20307","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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, Jaber Lyahyai, Lamiae Afif, Yamna Kriouile, Abdelaziz Sefiani, Siham Chafai Elalaoui","doi":"10.1002/epd2.20306","DOIUrl":"https://doi.org/10.1002/epd2.20306","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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":"https://doi.org/10.1002/epd2.20309","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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, 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":"<p><p>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.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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, Jonathan Gursky, Elissa Yozawitz","doi":"10.1002/epd2.20295","DOIUrl":"https://doi.org/10.1002/epd2.20295","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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, 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":"<p><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 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.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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, Bashayer Almohaimeed, Anita Datta","doi":"10.1002/epd2.20293","DOIUrl":"https://doi.org/10.1002/epd2.20293","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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, 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","doi":"10.1002/epd2.20303","DOIUrl":"https://doi.org/10.1002/epd2.20303","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"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}