Gagandeep Singh, Patricia Braga, Jaime Carrizosa, Marielle Prevos-Morgant, Man Mohan Mehndiratta, Priscilla Shisler, Chahnez Triki, Samuel Wiebe, Jo Wilmshurst, Ingmar Blümcke
Objective
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.
Methods
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.
Results
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 (p = .03), recognition of seizure mimics (p = .02), interpretation of test results for epilepsy care (p = .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.
Significance
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.
{"title":"The international league against epilepsy primary healthcare educational curriculum: Assessment of educational needs","authors":"Gagandeep Singh, Patricia Braga, Jaime Carrizosa, Marielle Prevos-Morgant, Man Mohan Mehndiratta, Priscilla Shisler, Chahnez Triki, Samuel Wiebe, Jo Wilmshurst, 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}
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.
Methods
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.
Results
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 (p = .07). Yield was not statistically significant across different age groups (p = .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 (p = .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.
Significance
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.
{"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, Bidisha Banerjee, Mitesh Shetty, Manikandan Mariappan, 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}
Xu Zhang, Feng Xiang, Xiaobing Shi, Ziyu Wang, Yang Li, Shimin Zhang, Xiaoyang Lan, Senyang Lang, Xiangqing Wang
Objective
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.
Methods
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.
Results
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; p = .004), focal seizures (OR 2.98; 95%CI 1.82–4.87; p < .001), and seizure clusters (OR 2.40; 95%CI 1.21–4.73; p = .01) had poor drug responses. Treatment outcomes were generally better in patients with epilepsy after CVD (OR .49; 95%CI .28–.85; p = .01). Treatment initiation after two seizures (OR .70; 95%CI .42–1.15; p = .16) or 6 months after the first seizure (OR 1.17; 95%CI .66–2.09; p = .58) did not result in poor drug effectiveness.
Significance
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.
{"title":"Characteristics and treatment of midlife-onset epilepsy: A 24-year single-center, retrospective study","authors":"Xu Zhang, Feng Xiang, Xiaobing Shi, Ziyu Wang, Yang Li, Shimin Zhang, Xiaoyang Lan, Senyang Lang, 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> < .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}
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.
{"title":"Characteristics of malignant brain tumor-associated epileptic spasms","authors":"Naoki Yamada, Ichiro Kuki, Masataka Fukuoka, Megumi Nukui, Takeshi Inoue, Ryoko Umaba, Noritsugu Kunihiro, Kai Yamasaki, Takehiro Uda, Hiroyuki Fujisaki, 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}
Davide Liviello, Sara Cipollone, Clarissa Corniello, Giacomo Evangelista, Laura Marzetti, Mirella Russo, Marco Onofrj, Fedele Dono, Stefano Sensi
Content available: Video
可用内容：视频
{"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, Sara Cipollone, Clarissa Corniello, Giacomo Evangelista, Laura Marzetti, Mirella Russo, Marco Onofrj, Fedele Dono, 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}
Ai Demura, Kozue Takada, Hiroya Ohara, Toshi Sai, Masayuki Nakakura, Marisse Dy Dizon, Takeshi Satow, Masako Kinoshita
<p>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.<span><sup>1</sup></span> Prominent astrocytosis is the common feature of FCD among various histopathological abnormalities of neuronal development.<span><sup>2</sup></span> In frontal lobe epilepsy, it is often difficult to localize seizure onset zones using scalp EEG.<span><sup>3</sup></span> Ictal direct current (DC) shifts reflect activities of neurons and glial cells, and helpful to delineate the epileptogenic zone.<span><sup>4-6</sup></span> 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.</p><p>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.</p><p>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.</p><p>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.<span><sup>7</sup></span> 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
{"title":"Scalp-recorded direct current shifts without EEG seizure patterns in frontal lobe seizures due to focal cortical dysplasia","authors":"Ai Demura, Kozue Takada, Hiroya Ohara, Toshi Sai, Masayuki Nakakura, Marisse Dy Dizon, Takeshi Satow, Masako Kinoshita","doi":"10.1002/epd2.20251","DOIUrl":"10.1002/epd2.20251","url":null,"abstract":"<p>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.<span><sup>1</sup></span> Prominent astrocytosis is the common feature of FCD among various histopathological abnormalities of neuronal development.<span><sup>2</sup></span> In frontal lobe epilepsy, it is often difficult to localize seizure onset zones using scalp EEG.<span><sup>3</sup></span> Ictal direct current (DC) shifts reflect activities of neurons and glial cells, and helpful to delineate the epileptogenic zone.<span><sup>4-6</sup></span> 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.</p><p>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.</p><p>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.</p><p>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.<span><sup>7</sup></span> 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}
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. Epileptic Disorders. 2022;24(3):447-495. doi: 10.1684/epd.2022.1430
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.
We apologize for this error.
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. Epileptic Disorders.2022;24（3）：447-495.DOI：10.1684/epd.2022.1430上述文章的表 2 中 "视频链接 "一栏中的 URL 已失效。更正后的表格包含有效链接，如下所示。我们对此错误深表歉意。
{"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}
Alexandra Laliberté, Saoussen Berrahmoune, Kenneth A. Myers
Objective
This retrospective study aimed to assess the efficacy and tolerability of sulthiame as an add-on treatment in children with pharmacoresistant epilepsies.
Methods
All patients with epilepsy who received sulthiame at Montreal Children's Hospital over an 11-year period were included. Medical charts were reviewed, and extracted data included patient age and sex, seizure types, epilepsy syndrome, electroencephalography (EEG) reports, brain imaging reports, antiseizure treatments trialed, starting and final dose of sulthiame, duration of sulthiame treatment, adverse events attributed to sulthiame, and seizure frequency before and after sulthiame treatment. EEG studies were also analyzed and spike–wave index (SWI) in the first 10 min of sleep was calculated.
Results
Sixteen patients were included, all of whom had pharmacoresistant epilepsies (mean of 9.9 trials of other antiseizure treatments). Six had genetic diagnoses, four had in utero/perinatal acquired brain injury, one had a suspected focal cortical dysplasia, and five were idiopathic. Ten patients had developmental and epileptic encephalopathy with spike–wave activation in sleep, three had Lennox–Gastaut syndrome, and one each had sleep-related hyperkinetic epilepsy, self-limited epilepsy with centrotemporal spikes, and mixed generalized and multifocal epilepsy. Of the 12 patients with uncontrolled seizures at the time of sulthiame initiation, 4 had improvement in seizure frequency, including 2 who became seizure free. Eight patients had EEG data available that allowed calculation of sleep SWI; from this group, SWI decreased from 81.1% +/− 17.6% to 45.1% +/− 36.5% (p = .007). The most common adverse events reported were somnolence/drowsiness, aggression, and increased seizure frequency. Of the patients with genetic etiologies, significant positive responses were seen in patients with pathogenic variants in NDUFS1 and SATB1.
Significance
These data demonstrate the therapeutic potential of sulthiame, even in patients with highly pharmacoresistant epilepsy. Improvements may be seen in both seizure frequency and sleep SWI.
{"title":"Sulthiame use in children with pharmacoresistant epilepsies: A retrospective study","authors":"Alexandra Laliberté, Saoussen Berrahmoune, Kenneth A. Myers","doi":"10.1002/epd2.20250","DOIUrl":"10.1002/epd2.20250","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This retrospective study aimed to assess the efficacy and tolerability of sulthiame as an add-on treatment in children with pharmacoresistant epilepsies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>All patients with epilepsy who received sulthiame at Montreal Children's Hospital over an 11-year period were included. Medical charts were reviewed, and extracted data included patient age and sex, seizure types, epilepsy syndrome, electroencephalography (EEG) reports, brain imaging reports, antiseizure treatments trialed, starting and final dose of sulthiame, duration of sulthiame treatment, adverse events attributed to sulthiame, and seizure frequency before and after sulthiame treatment. EEG studies were also analyzed and spike–wave index (SWI) in the first 10 min of sleep was calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sixteen patients were included, all of whom had pharmacoresistant epilepsies (mean of 9.9 trials of other antiseizure treatments). Six had genetic diagnoses, four had in utero/perinatal acquired brain injury, one had a suspected focal cortical dysplasia, and five were idiopathic. Ten patients had developmental and epileptic encephalopathy with spike–wave activation in sleep, three had Lennox–Gastaut syndrome, and one each had sleep-related hyperkinetic epilepsy, self-limited epilepsy with centrotemporal spikes, and mixed generalized and multifocal epilepsy. Of the 12 patients with uncontrolled seizures at the time of sulthiame initiation, 4 had improvement in seizure frequency, including 2 who became seizure free. Eight patients had EEG data available that allowed calculation of sleep SWI; from this group, SWI decreased from 81.1% +/− 17.6% to 45.1% +/− 36.5% (<i>p</i> = .007). The most common adverse events reported were somnolence/drowsiness, aggression, and increased seizure frequency. Of the patients with genetic etiologies, significant positive responses were seen in patients with pathogenic variants in <i>NDUFS1</i> and <i>SATB1</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>These data demonstrate the therapeutic potential of sulthiame, even in patients with highly pharmacoresistant epilepsy. Improvements may be seen in both seizure frequency and sleep SWI.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"591-599"},"PeriodicalIF":1.9,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20250","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180245","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}
Kelsey M. Smith, Adrian Budhram, Christian Geis, Andrew McKeon, Claude Steriade, Coral M. Stredny, Maarten J. Titulaer, Jeffrey W. Britton
With the discovery of an expanding number of neural autoantibodies, autoimmune etiologies of seizures have been increasingly recognized. Clinical phenotypes have been identified in association with specific underlying antibodies, allowing an earlier diagnosis. These phenotypes include faciobrachial dystonic seizures with LGI1 encephalitis, neuropsychiatric presentations associated with movement disorders and seizures in NMDA-receptor encephalitis, and chronic temporal lobe epilepsy in GAD65 neurologic autoimmunity. Prompt recognition of these disorders is important, as some of them are highly responsive to immunotherapy. The response to immunotherapy is highest in patients with encephalitis secondary to antibodies targeting cell surface synaptic antigens. However, the response is less effective in conditions involving antibodies binding intracellular antigens or in Rasmussen syndrome, which are predominantly mediated by cytotoxic T-cell processes that are associated with irreversible cellular destruction. Autoimmune encephalitides also may have a paraneoplastic etiology, further emphasizing the importance of recognizing these disorders. Finally, autoimmune processes and responses to novel immunotherapies have been reported in new-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES), warranting their inclusion in any current review of autoimmune-associated seizure disorders.
随着越来越多的神经自身抗体被发现，癫痫发作的自身免疫病因也被越来越多地认识到。临床表型已被确认与特定的潜在抗体有关，从而可以更早地做出诊断。这些表型包括：LGI1脑炎导致的面肌强直性发作、NMDA受体脑炎导致的运动障碍和癫痫发作相关的神经精神症状，以及GAD65神经系统自身免疫性疾病导致的慢性颞叶癫痫。及时识别这些疾病非常重要，因为其中一些疾病对免疫疗法的反应非常强烈。脑炎患者对免疫疗法的反应最高，因为他们体内有针对细胞表面突触抗原的抗体。然而，在涉及结合细胞内抗原的抗体或拉斯穆森综合症的情况下，免疫疗法的效果较差，因为这些疾病主要由细胞毒性 T 细胞过程介导，与不可逆的细胞破坏有关。自身免疫性脑炎也可能有副肿瘤病因，这进一步强调了识别这些疾病的重要性。最后，在新发难治性癫痫状态（NORSE）和发热感染相关癫痫综合征（FIRES）中也有自身免疫过程和对新型免疫疗法的反应的报道，因此有必要将其纳入目前任何与自身免疫相关的癫痫发作性疾病的综述中。
{"title":"Autoimmune-associated seizure disorders","authors":"Kelsey M. Smith, Adrian Budhram, Christian Geis, Andrew McKeon, Claude Steriade, Coral M. Stredny, Maarten J. Titulaer, Jeffrey W. Britton","doi":"10.1002/epd2.20231","DOIUrl":"10.1002/epd2.20231","url":null,"abstract":"<p>With the discovery of an expanding number of neural autoantibodies, autoimmune etiologies of seizures have been increasingly recognized. Clinical phenotypes have been identified in association with specific underlying antibodies, allowing an earlier diagnosis. These phenotypes include faciobrachial dystonic seizures with LGI1 encephalitis, neuropsychiatric presentations associated with movement disorders and seizures in NMDA-receptor encephalitis, and chronic temporal lobe epilepsy in GAD65 neurologic autoimmunity. Prompt recognition of these disorders is important, as some of them are highly responsive to immunotherapy. The response to immunotherapy is highest in patients with encephalitis secondary to antibodies targeting cell surface synaptic antigens. However, the response is less effective in conditions involving antibodies binding intracellular antigens or in Rasmussen syndrome, which are predominantly mediated by cytotoxic T-cell processes that are associated with irreversible cellular destruction. Autoimmune encephalitides also may have a paraneoplastic etiology, further emphasizing the importance of recognizing these disorders. Finally, autoimmune processes and responses to novel immunotherapies have been reported in new-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES), warranting their inclusion in any current review of autoimmune-associated seizure disorders.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 4","pages":"415-434"},"PeriodicalIF":1.9,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20231","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180290","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}
Jesus Eric Pina-Garza, Michael Chez, James Cloyd, Lawrence J. Hirsch, Reetta Kälviäinen, Pavel Klein, Lieven Lagae, Raman Sankar, Nicola Specchio, Adam Strzelczyk, Manuel Toledo, Eugen Trinka
Objective
The management of prolonged seizures (PS) and seizure clusters (SC) is impeded by the lack of international, evidence-based guidance. We aimed to develop expert recommendations regarding consensus definitions of PS, SC, and treatment goals to prevent progression to higher-level emergencies such as status epilepticus (SE).
Methods
An expert working group, comprising 12 epileptologists, neurologists, and pharmacologists from Europe and North America, used a modified Delphi consensus methodology to develop and anonymously vote on statements. Consensus was defined as ≥75% voting “Agree”/”Strongly agree.”
Results
All group members strongly agreed that termination of an ongoing seizure in as short a time as possible is the primary goal of rapid and early seizure termination (REST) and that an ideal medication for REST would start to act within 2 min of administration to terminate ongoing seizure activity. Consensus was reached on the terminology defining PS (with proposed thresholds of 5 min for prolonged focal seizures and 2 min for prolonged absence seizures and the convulsive phase of bilateral tonic-clonic seizures) and SC (an abnormal increase in seizure frequency compared with the individual patient's usual seizure pattern). All group members strongly agreed or agreed that patients who have experienced a PS should be offered a REST medication, and all patients who have experienced a SC should be offered an acute cluster treatment (ACT). Further, when prescribing a REST medication or ACT, a seizure action plan should be agreed upon in consultation with the patient and caregiver.
Significance
The expert working group had a high level of agreement on the recommendations for defining and managing PS and SC. These recommendations will complement the existing guidance for the management of acute seizures, with the possibility of treating them earlier to potentially avoid progression to more severe seizures, including SE.
{"title":"Outpatient management of prolonged seizures and seizure clusters to prevent progression to a higher-level emergency: Consensus recommendations of an expert working group","authors":"Jesus Eric Pina-Garza, Michael Chez, James Cloyd, Lawrence J. Hirsch, Reetta Kälviäinen, Pavel Klein, Lieven Lagae, Raman Sankar, Nicola Specchio, Adam Strzelczyk, Manuel Toledo, Eugen Trinka","doi":"10.1002/epd2.20243","DOIUrl":"10.1002/epd2.20243","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The management of prolonged seizures (PS) and seizure clusters (SC) is impeded by the lack of international, evidence-based guidance. We aimed to develop expert recommendations regarding consensus definitions of PS, SC, and treatment goals to prevent progression to higher-level emergencies such as status epilepticus (SE).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An expert working group, comprising 12 epileptologists, neurologists, and pharmacologists from Europe and North America, used a modified Delphi consensus methodology to develop and anonymously vote on statements. Consensus was defined as ≥75% voting “Agree”/”Strongly agree.”</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All group members strongly agreed that termination of an ongoing seizure in as short a time as possible is the primary goal of rapid and early seizure termination (REST) and that an ideal medication for REST would start to act within 2 min of administration to terminate ongoing seizure activity. Consensus was reached on the terminology defining PS (with proposed thresholds of 5 min for prolonged focal seizures and 2 min for prolonged absence seizures and the convulsive phase of bilateral tonic-clonic seizures) and SC (an abnormal increase in seizure frequency compared with the individual patient's usual seizure pattern). All group members strongly agreed or agreed that patients who have experienced a PS should be offered a REST medication, and all patients who have experienced a SC should be offered an acute cluster treatment (ACT). Further, when prescribing a REST medication or ACT, a seizure action plan should be agreed upon in consultation with the patient and caregiver.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The expert working group had a high level of agreement on the recommendations for defining and managing PS and SC. These recommendations will complement the existing guidance for the management of acute seizures, with the possibility of treating them earlier to potentially avoid progression to more severe seizures, including SE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 4","pages":"484-497"},"PeriodicalIF":1.9,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20243","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176707","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}
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