Epileptic Disorders最新文献

{"title":"Advancing international cooperation: An Italian survey on epilepsy projects","authors":"Jacopo Mattia Rovarini, Francesco Brigo, Maria Paola Canevini, Oriano Mecarelli, Maria Teresa Perenchio, Federica Silvia Ricci, Fabrizio Monti","doi":"10.1002/epd2.20257","DOIUrl":"10.1002/epd2.20257","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"724-726"},"PeriodicalIF":1.9,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472213","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":"Comment on: Soft cerebellar signs unveil RARS2-related epilepsy","authors":"Sara Bellido-Cuéllar, Ana Arteche-López, Miguel A. Martín, Rosa Ana Saiz-Díaz, Jesús González de la Aleja","doi":"10.1002/epd2.20258","DOIUrl":"10.1002/epd2.20258","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"727-728"},"PeriodicalIF":1.9,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472214","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":"Reply to: Comment on Soft cerebellar signs unveil RARS2-related epilepsy","authors":"Vidal Yahya, Robertino Dilena, Edoardo Monfrini","doi":"10.1002/epd2.20260","DOIUrl":"10.1002/epd2.20260","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"729"},"PeriodicalIF":1.9,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472132","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 international league against epilepsy primary healthcare educational curriculum: Assessment of educational needs","authors":"Gagandeep Singh,&nbsp;Patricia Braga,&nbsp;Jaime Carrizosa,&nbsp;Marielle Prevos-Morgant,&nbsp;Man Mohan Mehndiratta,&nbsp;Priscilla Shisler,&nbsp;Chahnez Triki,&nbsp;Samuel Wiebe,&nbsp;Jo Wilmshurst,&nbsp;Ingmar Blümcke","doi":"10.1002/epd2.20256","DOIUrl":"10.1002/epd2.20256","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To assess the need for an epilepsy educational curriculum for primary healthcare providers formulated by the International League Against Epilepsy (ILAE) and the importance attributed to its competencies by epilepsy specialists and primary care providers and across country-income settings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The ILAE primary care epilepsy curriculum was translated to five languages. A structured questionnaire assessing the importance of its 26 curricular competencies was posted online and publicized widely to an international community. Respondents included epilepsy specialists, primary care providers, and others from three World Bank country-income categories. Responses from different groups were compared with univariate and ordinal logistic regression analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 785 respondents, 60% noted that a primary care epilepsy curriculum did not exist or they were unaware of one in their country. Median ranks of importance for all competencies were high (very important to extremely important) in the entire sample and across different groups. Fewer primary care providers than specialists rated the following competencies as extremely important: definition of epilepsy (<i>p</i> = .03), recognition of seizure mimics (<i>p</i> = .02), interpretation of test results for epilepsy care (<i>p</i> = .001), identification of drug-resistant epilepsy (0.005) and management of psychiatric comorbidities (0.05). Likewise, fewer respondents from LMICs in comparison to UMICs rated 15 competencies as extremely important.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The survey underscores the unmet need for an epilepsy curriculum in primary care and the relevance of its competencies across different vocational and socioeconomic settings. Differences across vocational and country income groups indicate that educational packages should be developed and adapted to needs in different settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"638-650"},"PeriodicalIF":1.9,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20256","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460432","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 retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0–12 years aged children at a single tertiary care hospital in South India","authors":"Manasa C. Murthy,&nbsp;Bidisha Banerjee,&nbsp;Mitesh Shetty,&nbsp;Manikandan Mariappan,&nbsp;Akansha Sekhsaria","doi":"10.1002/epd2.20254","DOIUrl":"10.1002/epd2.20254","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Studies on the genetic yield of developmental and epileptic encephalopathy and Epileptic encephalopathies using next-generation sequencing techniques are sparse from the Indian subcontinent. Hence, the study was conducted to assess the yield of genetic testing and the proportion of children where a positive genetic yield influenced treatment decisions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this retrospective observational study, electronic medical records of children (0–12 years) with suspected genetic epilepsy who underwent genetic testing using whole exome sequencing, focused exome sequencing and epilepsy gene panels were retrieved. Genetic yield was ascertained based on the detection of pathogenic and likely pathogenic variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 100 patients with epilepsy underwent genetic testing. A yield of 53.8% (42/78) was obtained. Pathogenic variants were identified in 18 (42.8%) cases and likely pathogenic variants in 24 (57.1%) cases. Yield was 66.6% each through whole exome sequencing, focused exome sequencing and 40% through Epilepsy gene panels (<i>p</i> = .07). Yield was not statistically significant across different age groups (<i>p</i> = .2). It was however found to significantly vary across different epilepsy syndromes with maximum yield in Epilepsy in infancy with migrating focal seizures in 2 (100%), followed by developmental and epileptic encephalopathy unspecified in 14 (77.7%), Dravet syndrome in 14 (60.8%), early infantile developmental and epileptic encephalopathy in 3 (60%), infantile epileptic spasm syndrome in 5 (35.7%), and other epileptic encephalopathies in 4 (30.7%) cases (<i>p</i> = .04). After genetic diagnosis and drug optimization, drug-refractory proportion reduced from 73.8% to 45.3%. About half of the cases achieved seizure control.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>A reasonably high yield of 53.8% was obtained irrespective of the choice of panel or exome or age group using next-generation sequencing-based techniques. Yield was however higher in certain epilepsy syndromes and low in Infantile epileptic spasms syndrome. A specific genetic diagnosis facilitated tailored treatment leading to seizure freedom in 28.6% and marked seizure reduction in 54.7% cases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"609-625"},"PeriodicalIF":1.9,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460431","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":"Characteristics and treatment of midlife-onset epilepsy: A 24-year single-center, retrospective study","authors":"Xu Zhang,&nbsp;Feng Xiang,&nbsp;Xiaobing Shi,&nbsp;Ziyu Wang,&nbsp;Yang Li,&nbsp;Shimin Zhang,&nbsp;Xiaoyang Lan,&nbsp;Senyang Lang,&nbsp;Xiangqing Wang","doi":"10.1002/epd2.20253","DOIUrl":"10.1002/epd2.20253","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to analyze the clinical characteristics, etiology, and treatment of midlife-onset epilepsy in a real-world setting at a single center in China.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The clinical data of patients who attended the epilepsy clinic of the Department of Neurology, First Medical Center of Chinese PLA General Hospital from February 1999 to March 2023 were retrospectively analyzed. The clinical characteristics, etiology, and risk factors for midlife-onset epilepsy over the past 24 years were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 969 patients with onset at 45–64 years of age, 914 were diagnosed with epilepsy with at least two unprovoked seizures 24 h apart. Of those, 99.7% (911) were of focal origin. The median duration from the initial seizure to follow-up treatment was 2 months (interquartile range [IQR]: 1.0–6.0 months). Before commencing treatment, 30.2% (207/683) of patients experienced more than two seizures. A structural etiology was found in 66.3% (606/914) of patients. Cerebrovascular disease (CVD) and traumatic brain injury (TBI) accounted for 19.9% (182/914) and 16.6% (152/914) of the cases, respectively. Logistic regression analysis showed that patients with abnormal imaging (odds ratio [OR] 2.04; 95% confidence interval [CI] 1.25–3.32; <i>p</i> = .004), focal seizures (OR 2.98; 95%CI 1.82–4.87; <i>p</i> &lt; .001), and seizure clusters (OR 2.40; 95%CI 1.21–4.73; <i>p</i> = .01) had poor drug responses. Treatment outcomes were generally better in patients with epilepsy after CVD (OR .49; 95%CI .28–.85; <i>p</i> = .01). Treatment initiation after two seizures (OR .70; 95%CI .42–1.15; <i>p</i> = .16) or 6 months after the first seizure (OR 1.17; 95%CI .66–2.09; <i>p</i> = .58) did not result in poor drug effectiveness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Midlife-onset epilepsy is typically of focal etiology, with CVD being the most common cause, and tends to respond well to medication. The median duration from the initial seizure to follow-up treatment was 2 months. Over 30% of patients experienced more than two seizures before commencing treatment, but this did not affect subsequent outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"600-608"},"PeriodicalIF":1.9,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421748","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":"Characteristics of malignant brain tumor-associated epileptic spasms","authors":"Naoki Yamada,&nbsp;Ichiro Kuki,&nbsp;Masataka Fukuoka,&nbsp;Megumi Nukui,&nbsp;Takeshi Inoue,&nbsp;Ryoko Umaba,&nbsp;Noritsugu Kunihiro,&nbsp;Kai Yamasaki,&nbsp;Takehiro Uda,&nbsp;Hiroyuki Fujisaki,&nbsp;Shin Okazaki","doi":"10.1002/epd2.20240","DOIUrl":"10.1002/epd2.20240","url":null,"abstract":"<p>Although epilepsy is the most common comorbidity of brain tumors, epileptic spasms rarely occur. Brain tumors associated with epileptic spasms are mostly low-grade gliomas. To date, few studies in the literature have reported on malignant (Grades 3–4) brain tumors associated with epileptic spasms. Thus, we aimed to investigate the characteristics of malignant brain tumor-associated epileptic spasms. We retrospectively reviewed patients with malignant brain tumors and epileptic spasms in our institution. Data on demographics, tumor histology, magnetic resonance imaging, epileptic spasm characteristics, electroencephalography, and treatment responsiveness were also collected. Six patients were included. In all cases, the brain tumors occurred in infancy in the supratentorial region and epileptic spasm onset occurred after the completion of brain tumor treatment. Anti-seizure medication did not control epileptic spasms; two patients were seizure-free after epileptic surgery. Although all patients had developmental delays caused by malignant brain tumors and their treatment, developmental regression proceeded after epileptic spasm onset. Two patients who achieved seizure-free status showed improved developmental outcomes after cessation of epileptic spasms. This is the first report of the characteristics of malignant brain tumor-associated epileptic spasms. Our report highlights a difficulties of seizure control and possibillity of efficacy of epileptic surgery in this condition. In malignant brain tumor-associated epileptic spasms, it is important to proceed with presurgical evaluation from an early stage, bearing in mind that epileptic spasms may become drug-resistant.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 4","pages":"514-519"},"PeriodicalIF":1.9,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421749","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":"Dancing sugar! A case of epilepsia partialis continua and subsequent belly dancing syndrome in a patient with a hyperosmolar hyperglycemic state","authors":"Davide Liviello,&nbsp;Sara Cipollone,&nbsp;Clarissa Corniello,&nbsp;Giacomo Evangelista,&nbsp;Laura Marzetti,&nbsp;Mirella Russo,&nbsp;Marco Onofrj,&nbsp;Fedele Dono,&nbsp;Stefano Sensi","doi":"10.1002/epd2.20241","DOIUrl":"10.1002/epd2.20241","url":null,"abstract":"<p>Content available: Video</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 4","pages":"544-547"},"PeriodicalIF":1.9,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285251","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":"Scalp-recorded direct current shifts without EEG seizure patterns in frontal lobe seizures due to focal cortical dysplasia","authors":"Ai Demura,&nbsp;Kozue Takada,&nbsp;Hiroya Ohara,&nbsp;Toshi Sai,&nbsp;Masayuki Nakakura,&nbsp;Marisse Dy Dizon,&nbsp;Takeshi Satow,&nbsp;Masako Kinoshita","doi":"10.1002/epd2.20251","DOIUrl":"10.1002/epd2.20251","url":null,"abstract":"&lt;p&gt;Focal cortical dysplasia (FCD) is a major cause of intractable epilepsy, named on the basis of irregular dysmorphic neurons and ballooned cells within disorganized architecture of the neocortex.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Prominent astrocytosis is the common feature of FCD among various histopathological abnormalities of neuronal development.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; In frontal lobe epilepsy, it is often difficult to localize seizure onset zones using scalp EEG.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; Ictal direct current (DC) shifts reflect activities of neurons and glial cells, and helpful to delineate the epileptogenic zone.&lt;span&gt;&lt;sup&gt;4-6&lt;/sup&gt;&lt;/span&gt; We analyzed EEG data of a female patient with FCD in the right frontal lobe. While DC shifts during hyperkinetic seizures were useful in diagnosis, obvious EEG seizure patterns were not detected. Thus, DC shifts may raise diagnostic sensitivity.&lt;/p&gt;&lt;p&gt;A 33-year-old female, who developed generalized convulsion at the age of 17 years and presented with recent deterioration of seizures despite combination therapy of valproate, levetiracetam, and zonisamide, was investigated. Written informed consent was obtained from the patient for the participation and publication of the study. Brain MRI showed FCD in the right frontal lobe, anterior to the precentral gyrus, without contrast medium enhancement (Ingenia 3.0T CX; Philips Japan, Tokyo, Japan). Arterial spin labeling images show hyperperfusion of the lesion with post-labeling delay of both 1525 and 1800 ms (Figure 1A–C). Interictal Iodine-123-iomazenil single photon emission computed tomography showed decreased tracer uptake in the right frontal lobe.&lt;/p&gt;&lt;p&gt;Scalp record of video-EEG for 17 h was analyzed. EEG signals were recoded via silver/silver chloride disk electrodes (NE-116A; Nihon Kohden, Tokyo, Japan), 10 mm in diameter, placed on the scalp with adhesive paste (Ten20; Weaver and Company, Colorado, US) according to the International 10–20 system. The impedance of electrodes was kept less than 10 kΩ. Electrooculogram was recorded via an electrode placed 1 cm under right external canthus. Recording machines were EEG-1214 and EEG-1218 (Nihon Kohden, Tokyo, Japan). Sampling frequency was 500 Hz and 200 Hz, and bandpass filter for data acquisition was .08–120 Hz and .08–60 Hz, respectively.&lt;/p&gt;&lt;p&gt;Data were reviewed offline under conventional condition of time constant (TC) .3 s and clinical seizures with typical motor symptom were marked. Duration of each seizure was measured by visual inspection of video record and movement artifacts (Figure 1D, Figures S1 and S2). DC shifts were defined as negative slow deflection, better delineated with TC 2.0 s, 30 s/screen, and HF15 than conventional reviewing condition, and reproducible in location.&lt;span&gt;&lt;sup&gt;7&lt;/sup&gt;&lt;/span&gt; The amplitude was measured from DC shift onset to seizure onset of dystonic movement of the left arm (Figure 1E). The awake/sleep stages were classified according to the American Academy of Sleep Medicin","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"711-714"},"PeriodicalIF":1.9,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20251","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141263418","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":"Correction to “Seizure semiology: ILAE glossary of terms and their significance”","authors":"","doi":"10.1002/epd2.20248","DOIUrl":"10.1002/epd2.20248","url":null,"abstract":"<p>Beniczky S, Tatum WO, Blumenfeld H, Stefan H, Mani J, Maillard L, Fahoum F, Vinayan KP, Mayor LC, Vlachou M, Seeck M, Ryvlin P, Kahane P. <i>Epileptic Disorders</i>. 2022;24(3):447-495. doi: 10.1684/epd.2022.1430</p><p>Table 2 of the above article contains URLs in the “Video link” column that are no longer valid. The corrected table with valid links is shown below.</p><p>We apologize for this error.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 4","pages":"561-565"},"PeriodicalIF":1.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20248","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141187114","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}