Epilepsy and Behavior Reports最新文献

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Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis θ波段节律异常:作为小儿抗NMDAR脑炎疾病严重程度潜在生物标记的脑电图异常
IF 1.8
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100704
Yumie Tamura , Mitsumasa Fukuda , Akihiko Ishiyama , Hiroya Nishida , Hirofumi Kashii , Hideaki Mashimo , Kenji Inoue , Hiroshi Sakuma , Satoko Kumada
{"title":"Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis","authors":"Yumie Tamura ,&nbsp;Mitsumasa Fukuda ,&nbsp;Akihiko Ishiyama ,&nbsp;Hiroya Nishida ,&nbsp;Hirofumi Kashii ,&nbsp;Hideaki Mashimo ,&nbsp;Kenji Inoue ,&nbsp;Hiroshi Sakuma ,&nbsp;Satoko Kumada","doi":"10.1016/j.ebr.2024.100704","DOIUrl":"10.1016/j.ebr.2024.100704","url":null,"abstract":"<div><p>Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children often requires early immunosuppressive therapy before antibody detection. While various electroencephalogram (EEG) patterns, including extreme delta brushes (EDBs), have been reported in adults, pediatric EEG characteristics remain understudied. This study aims to assist clinicians in identifying severe cases early, potentially improving treatment outcomes through prompt intervention. This retrospective case series examined EEG features influenced by disease severity in children with anti-NMDAR encephalitis. We evaluated six children (1–13 years old; four females, two males) treated at Tokyo Metropolitan Neurological Hospital from January 2007 to January 2023. The severity of autoimmune encephalitis in our patients was assessed using the Clinical Assessment Scale in Autoimmune Encephalitis (CASE). The literature proposes a severity classification for the CASE score, wherein scores of 0–8 points are categorized as mild, 9–18 points as moderate, and 19–27 points as severe. In our patients, CASE scores ranged from 4 to 25 (median:19). We reviewed acute-phase EEG recordings, including 13 long-term videos and 58 conventional recordings. None of the patients maintained a normal posterior-dominant rhythm, and only one exhibited EDBs. Notably, three patients with higher CASE scores (≥15) displayed abnormal theta-band rhythm during non-REM sleep and prolonged EEG recovery times. Our findings suggest that abnormal theta-band rhythms may serve as a potential acute-phase EEG biomarker for severe anti-NMDAR encephalitis in children.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"27 ","pages":"Article 100704"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000613/pdfft?md5=6bd7295b7e6ad65813dda407fab33983&pid=1-s2.0-S2589986424000613-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141964161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Equine-assisted therapy in quality of life and functioning of people with active epilepsy: A feasibility study 马术辅助治疗提高活动性癫痫患者的生活质量和功能:可行性研究
IF 1.8
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100707
Franciely Oliveira de Andrade Santos , Caroline Souza-Santos , Adrielle Andrade Passos , Roseane Nunes de Santana Campos , Paulo Ricardo Martins-Filho , Ricardo Mario Arida , Lavínia Teixeira-Machado
{"title":"Equine-assisted therapy in quality of life and functioning of people with active epilepsy: A feasibility study","authors":"Franciely Oliveira de Andrade Santos ,&nbsp;Caroline Souza-Santos ,&nbsp;Adrielle Andrade Passos ,&nbsp;Roseane Nunes de Santana Campos ,&nbsp;Paulo Ricardo Martins-Filho ,&nbsp;Ricardo Mario Arida ,&nbsp;Lavínia Teixeira-Machado","doi":"10.1016/j.ebr.2024.100707","DOIUrl":"10.1016/j.ebr.2024.100707","url":null,"abstract":"<div><p>People with active epilepsy, which is often associated with specific neurological conditions, endure significant impairments in quality of life (QoL) and functioning, particularly those in middle-income countries. Physical intervention plays an essential role in addressing these challenges. This study investigated the impact of equine-assisted therapy (EAT) on QoL, functional independence, sleep quality, antiseizure medications, and frequency of seizures among people with epilepsy (PWE), with or without additional neurological conditions. Fourteen participants aged 4–34 years old diagnosed with focal epilepsy participated in a structured EAT program. The EAT program consisted of 36 sessions, each lasting 30 min and conducted weekly. Data were collected at four different times: baseline (T1), after 12 sessions (T2), after 24 sessions (T3), and after 36 sessions (T4). The assessments included the Quality of Life in Epilepsy (QOLIE-31), Functional Independence Measure (FIM), Pittsburgh Sleep Quality Index (PSQI), and Liverpool Adverse Event Profile (LAEP) scores. Seizure frequency was monitored continuously. Horse welfare was evaluated using the Horse Welfare Assessment Protocol (HWAP). After the EAT intervention, significant improvements were observed in the QoL scores (from 62.18 [57.88 – 70.25] to 80.18 [65.30 – 86.78]) and in FIM values (from 70.00 [36.50 – 97.75] to 70.00 [51.75 – 116.75]), particularly in the self-care and social cognition domains. Additionally, there was also a decrease in seizure frequency, adverse effects of antiseizure medications, and sleep quality. The HWAP indicated satisfactory welfare conditions for the horses. These findings indicate that EAT holds promise as a therapeutic intervention for improving the QoL and functioning of PWE. Tailored interventions are essential to address the diverse challenges faced by PWE, emphasizing the need for further research on effective therapeutic approaches.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"28 ","pages":"Article 100707"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000649/pdfft?md5=06466a8c19b04273de6379017607f758&pid=1-s2.0-S2589986424000649-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142086906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tiagabine-induced encephalopathy suppressed by vagus nerve stimulation: A case report 迷走神经刺激可抑制噻加宾诱发的脑病:病例报告
IF 1.8
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100709
Christine N. Smith , Stephan Eisenschenk , Yue Wang
{"title":"Tiagabine-induced encephalopathy suppressed by vagus nerve stimulation: A case report","authors":"Christine N. Smith ,&nbsp;Stephan Eisenschenk ,&nbsp;Yue Wang","doi":"10.1016/j.ebr.2024.100709","DOIUrl":"10.1016/j.ebr.2024.100709","url":null,"abstract":"<div><p>Tiagabine has been associated with reports of status epilepticus as well as encephalopathy, even when used within therapeutic doses. Vagus nerve stimulation (VNS) has been used successfully to reduce seizure frequency in the outpatient setting as well as in the acute setting of status epilepticus. It is also theorized to reduce cortical synchronization. We present a case of a patient on adjunctive tiagabine therapy who developed sudden onset encephalopathy and rhythmic delta activity soon after vagus nerve stimulation was turned off in preparation for magnetic resonance imaging. The bilateral rhythmic delta activity significantly reduced in burden after VNS was turned back on and encephalopathy also gradually improved to baseline. We hypothesize that vagus nerve stimulation successfully interrupted diffuse hypersynchrony, in the form of bilateral rhythmic delta activity, caused by tiagabine. To our knowledge, this is the first report of such a phenomenon.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"28 ","pages":"Article 100709"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000662/pdfft?md5=2ccce8e89ee215768f64dea8c61ef0b5&pid=1-s2.0-S2589986424000662-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142136640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Co-existence of anti-glutamic acid decarboxylase-65 and anti-sry-like high-mobility group box receptor antibody-associated autoimmune encephalitis: A rare case report 抗谷氨酸脱羧酶-65和抗sry样高迁移率基团盒受体抗体并存的自身免疫性脑炎:罕见病例报告
IF 1.5
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100648
Raneem H. Alghamdi, Daad Alsowat, Suad Alyamani, Haya Alfaris, Amal Mokeem
{"title":"Co-existence of anti-glutamic acid decarboxylase-65 and anti-sry-like high-mobility group box receptor antibody-associated autoimmune encephalitis: A rare case report","authors":"Raneem H. Alghamdi,&nbsp;Daad Alsowat,&nbsp;Suad Alyamani,&nbsp;Haya Alfaris,&nbsp;Amal Mokeem","doi":"10.1016/j.ebr.2024.100648","DOIUrl":"10.1016/j.ebr.2024.100648","url":null,"abstract":"<div><p>Autoimmune encephalitis (AE) has been increasingly recognized in children. An 11-year-old Saudi boy presented with prodromal symptoms of fever and headache followed by behavioral changes, cognitive impairment, and focal seizures. Cerebrospinal fluid (CSF) analysis showed pleocytosis. Brain magnetic resonance imaging showed T2/fluid-attenuated inversion recovery hyperintensities involving the temporal, parietal and frontal lobes. Electroencephalography revealed diffuse encephalopathy and electrographic seizures. AE was suspected; intravenous methylprednisolone and immunoglobulin were administered. Autoantibodies against glutamic acid decarboxylase-65 were detected in his serum and CSF and against Sry-like high- mobility group box 1 in his serum only. The patient was diagnosed with seropositive AE and favorably responded to intensive immunosuppressive therapy.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"25 ","pages":"Article 100648"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000054/pdfft?md5=b002034067c138bea91dc652e83f7e3a&pid=1-s2.0-S2589986424000054-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139631549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 6-year-old with childhood absence epilepsy and motor hyperactivity 一名患有儿童失神性癫痫和运动过动症的 6 岁儿童
IF 1.5
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100660
Stéphane Auvin
{"title":"A 6-year-old with childhood absence epilepsy and motor hyperactivity","authors":"Stéphane Auvin","doi":"10.1016/j.ebr.2024.100660","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100660","url":null,"abstract":"<div><p>A case study of a child with childhood absence epilepsy and hyperactivity introduces the discussion around the psychiatric diagnosis, differential considerations, and pharmacologic treatment options for ADHD/hyperactivity in children with epilepsy. Most of the time, ADHD in children with epilepsy is an inattentive form.</p><p>The assessment emphasizes the need to differentiate ADHD symptoms from other psychiatric comorbidities. This is also crucial to evaluate when symptoms emerged, their impact on daily life, and if it could be a potential medication side effect. Speaking about hyperactivity signs, differential diagnoses include anxiety disorders, autism spectrum disorders, learning disabilities, and thyroid disorders. Valproate use is associated with an exacerbation of attentional issues in childhood absence epilepsy, but there are also studies suggesting its possible role in hyperactivity symptoms.</p><p>Regarding pharmacologic treatment, limited studies exist on ADHD management in children with epilepsy. Methylphenidate shows effectiveness without significant risk of epilepsy worsening. Atomoxetine and clonidine, usually use in ADHD, lack sufficient data for efficacy and safety in children with epilepsy and ADHD. Pharmacologic treatment should be a part of a global management plan that involves psychoeducation, environmental adaptations, and collaborative efforts between healthcare providers, caregivers, and schools.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100660"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000170/pdfft?md5=617bfd5a7f6f6e20bc020f5ff3ba43e8&pid=1-s2.0-S2589986424000170-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140159936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trends of anti-seizure medication prescribing pattern in traumatic brain injury patients for the prevention of posttraumatic seizure in Taiwan 台湾脑外伤患者预防创伤后癫痫发作的抗癫痫药物处方模式趋势
IF 1.5
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100662
Hsin-Tien Lee , Fen-Fen Liao , Sui-Sum Kung , Shang-Jyh Hwang , Kun-Pin Hsieh
{"title":"Trends of anti-seizure medication prescribing pattern in traumatic brain injury patients for the prevention of posttraumatic seizure in Taiwan","authors":"Hsin-Tien Lee ,&nbsp;Fen-Fen Liao ,&nbsp;Sui-Sum Kung ,&nbsp;Shang-Jyh Hwang ,&nbsp;Kun-Pin Hsieh","doi":"10.1016/j.ebr.2024.100662","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100662","url":null,"abstract":"<div><p>Traumatic brain injury (TBI) patients are recommended to receive anti-seizure medication (ASM) as posttraumatic seizure (PTS) prophylaxis. However, the utilization of ASM, including the prescription patterns and associated clinical characteristics, is limited in Taiwan. Thus, this study aimed to investigate the ASM trends and clinical characteristics. This retrospective cohort study enrolled TBI patients who received levetiracetam, phenytoin, and valproic acid during hospitalization using the National Health Insurance Research Database between 2012 and 2019. The primary outcome was the trend of the ASMs based on the index year. The duration of levetiracetam prescription was categorized as short-term (seven days or less) or long-term (more than seven days). Logistic regression identified the factors associated with long-term usage. A total of 64,461 TBI patients were included. Levetiracetam usage increased yearly, while phenytoin declined. Among the levetiracetam users, 5681 (30.38%) were short-term users, and 13,016 (69.62%) were long-term users. Diagnoses of contusions, intracranial hemorrhage, other intracranial injuries, receiving operations, and a history of cerebrovascular disease were significantly associated with longer duration. Conclusions This study revealed the rising trend of levetiracetam usage, indicating its potential as an alternative to phenytoin. TBI patients with more severe conditions were more likely to receive longer prescriptions.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100662"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000194/pdfft?md5=1e72f88d49129766acdbdecbd59177f6&pid=1-s2.0-S2589986424000194-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140309722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aerobic exercise alters DNA hydroxymethylation levels in an experimental rodent model of temporal lobe epilepsy 有氧运动可改变颞叶癫痫实验啮齿动物模型中的 DNA 羟甲基化水平
IF 1.5
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2023.100642
Silvienne C. Sint Jago , Rudhab Bahabry , Anna Maria Schreiber , Julia Homola , Tram Ngyuen , Fernando Meijia , Jane B. Allendorfer , Farah D. Lubin
{"title":"Aerobic exercise alters DNA hydroxymethylation levels in an experimental rodent model of temporal lobe epilepsy","authors":"Silvienne C. Sint Jago ,&nbsp;Rudhab Bahabry ,&nbsp;Anna Maria Schreiber ,&nbsp;Julia Homola ,&nbsp;Tram Ngyuen ,&nbsp;Fernando Meijia ,&nbsp;Jane B. Allendorfer ,&nbsp;Farah D. Lubin","doi":"10.1016/j.ebr.2023.100642","DOIUrl":"10.1016/j.ebr.2023.100642","url":null,"abstract":"<div><p>The therapeutic potential of aerobic exercise in mitigating seizures and cognitive issues in temporal lobe epilepsy (TLE) is recognized, yet the underlying mechanisms are not well understood. Using a rodent TLE model induced by Kainic acid (KA), we investigated the impact of a single bout of exercise (i.e., acute) or 4 weeks of aerobic exercise (i.e., chronic). Blood was processed for epilepsy-associated serum markers, and DNA methylation (DNAme), and hippocampal area CA3 was assessed for gene expression levels for DNAme-associated enzymes. While acute aerobic exercise did not alter serum Brain-Derived Neurotrophic Factor (BDNF) or Interleukin-6 (IL-6), chronic exercise resulted in an exercise-specific decrease in serum BDNF and an increase in serum IL-6 levels in epileptic rats. Additionally, whole blood DNAme levels, specifically 5-hydroxymethylcytosine (5-hmC), decreased in epileptic animals following chronic exercise. Hippocampal CA3 5-hmC levels and ten-eleven translocation protein (TET1) expression mirrored these changes. Furthermore, immunohistochemistry analysis revealed that most 5-hmC changes in response to chronic exercise were neuron-specific within area CA3 of the hippocampus. Together, these findings suggest that DNAme mechanisms in the rodent model of TLE are responsive to chronic aerobic exercise, with emphasis on neuronal 5-hmC DNAme in the epileptic hippocampus.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"25 ","pages":"Article 100642"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986423000606/pdfft?md5=f3c6b8cc6ea31a8a339278ce52581b64&pid=1-s2.0-S2589986423000606-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139196125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy 一名卡马西平反应性局灶性癫痫患者的 DEPDC5 基因中的无义突变
IF 1.5
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100683
Grainne Mulkerrin , Michael J. Hennessy
{"title":"Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy","authors":"Grainne Mulkerrin ,&nbsp;Michael J. Hennessy","doi":"10.1016/j.ebr.2024.100683","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100683","url":null,"abstract":"","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"27 ","pages":"Article 100683"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000406/pdfft?md5=5298d1d03398c494732e773710b06618&pid=1-s2.0-S2589986424000406-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141424465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Partial Rhombencephalosynapsis Presenting in an Adult with Cerebello-Trigeminal-Dermal Dysplasia 成人大脑-三叉神经-真皮发育不良症患者出现部分菱形脑瘫
IF 1.8
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100688
Frances Tiffany Cava Morden , Bao Xin Liang , Linda Nguyen , Enrique Carrazana , Arash Ghaffari-Rafi , Kore Kai Liow
{"title":"Partial Rhombencephalosynapsis Presenting in an Adult with Cerebello-Trigeminal-Dermal Dysplasia","authors":"Frances Tiffany Cava Morden ,&nbsp;Bao Xin Liang ,&nbsp;Linda Nguyen ,&nbsp;Enrique Carrazana ,&nbsp;Arash Ghaffari-Rafi ,&nbsp;Kore Kai Liow","doi":"10.1016/j.ebr.2024.100688","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100688","url":null,"abstract":"<div><p>Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is a neurocutaneous disorder typically presenting in childhood. GLHS is characterized by rhombencephalosynapsis (RES) and partial alopecia, with or without trigeminal anesthesia. We describe a rare case of GLHS in a paucisymptomatic adult who presented with new-onset seizure-like activity. Magnetic resonance imaging revealed partial midline fusion of the cerebellar hemispheres, incomplete development of vermis, and slight medialization of the dentate nuclei: all consistent with the diagnosis of RES. Radiographic evidence combined with partial alopecia, truncal ataxia, and muscular hypotonia are suggestive GLHS diagnosis. Our report not only highlights the importance of maintaining GLHS on the differential for new-onset seizure-like activity, but also demonstrates how patients with GLHS may be minimally symptomatic and diagnosed in adulthood.</p></div><div><h3>Lay Summary</h3><p>The Gomez-Lopez-Hernandez syndrome (GLHS), or cerebellotrigeminal-dermal dysplasia, is a rare condition that affects both the nervous system and the skin. It involves abnormal development of the brain, partial alopecia [thinning of hair], and loss of sensation in the face. One specific brain malformation, called rhombencephalosynapsis (RES), results from abnormal formation of the cerebellum and is seen in GHLS.Both RES and GLHS present early in childhood, and cases presenting later in life are exceptionally rare. Here we describe a young adult with RES and GLHS whose normal development and mild clumsiness eluded recognition by doctors until early adulthood when she presented with a single seizure.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"27 ","pages":"Article 100688"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000455/pdfft?md5=aa0d040b432aa480f85e4559daf82aba&pid=1-s2.0-S2589986424000455-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141540086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hidden cases of epilepsy in cognitive impairment clinics: Exploring the use of a portable device for simplified electroencephalography testing 认知障碍诊所中的癫痫隐匿病例:探索使用便携式设备简化脑电图测试
IF 1.8
Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100701
Masahiro Hata , Yuto Satake , Yuki Miyazaki , Hisaki Omori , Atsuya Hirashima , Hideki Kanemoto , Kenji Yoshiyama , Shun Takahashi , Manabu Ikeda
{"title":"Hidden cases of epilepsy in cognitive impairment clinics: Exploring the use of a portable device for simplified electroencephalography testing","authors":"Masahiro Hata ,&nbsp;Yuto Satake ,&nbsp;Yuki Miyazaki ,&nbsp;Hisaki Omori ,&nbsp;Atsuya Hirashima ,&nbsp;Hideki Kanemoto ,&nbsp;Kenji Yoshiyama ,&nbsp;Shun Takahashi ,&nbsp;Manabu Ikeda","doi":"10.1016/j.ebr.2024.100701","DOIUrl":"10.1016/j.ebr.2024.100701","url":null,"abstract":"<div><p>Late-onset epilepsy, particularly focal impaired awareness seizures, often present without convulsions and can cause memory impairment. This can lead patients to initially seek consultation at memory clinics, potentially delaying referral to epilepsy specialists. We report on three patients, aged 40s to 70s, admitted for cognitive evaluation who were finally diagnosed with epileptic seizures as the underlying cause of their symptoms. Notably, all initially presented to local clinics with symptoms suggesting cognitive impairment. Despite initial diagnostic uncertainty, all patients exhibited epileptic activity on electroencephalography (EEG) and responded positively to antiepileptic drugs, suggesting epileptic mechanisms were involved in their symptoms. Both traditional clinical EEG systems and newly developed, one-minute portable EEG devices were used in their evaluations. The portable device, medically approved in Japan, successfully captured sharp-waves like activities with the same durations, amplitudes, and shapes as traditional devices. This highlights its potential to improve epilepsy diagnosis and future screening due to its portability and ease of use. Implementing portable EEG devices could promote timely and appropriate treatment, preventing misdiagnosis of neurological conditions.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"27 ","pages":"Article 100701"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000583/pdfft?md5=ddc3fc13c89f7f0a35d93b3ef9d4d944&pid=1-s2.0-S2589986424000583-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141848116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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