Epileptic Disorders最新文献

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CASPR2-related epilepsy: A distinctive and unrecognized form of epilepsy in adult and elderly males CASPR2相关癫痫:成年男性和老年男性中一种独特且未被发现的癫痫形式
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-08-10 DOI: 10.1002/epd2.20269
Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Maria Tappatà, Maria Pia Giannoccaro, Elisa Micalizzi, Anastasia Lechiara, Pietro Mattioli, Luana Benedetti, Flavio Villani
{"title":"CASPR2-related epilepsy: A distinctive and unrecognized form of epilepsy in adult and elderly males","authors":"Roberto Michelucci,&nbsp;Elena Pasini,&nbsp;Patrizia Riguzzi,&nbsp;Maria Tappatà,&nbsp;Maria Pia Giannoccaro,&nbsp;Elisa Micalizzi,&nbsp;Anastasia Lechiara,&nbsp;Pietro Mattioli,&nbsp;Luana Benedetti,&nbsp;Flavio Villani","doi":"10.1002/epd2.20269","DOIUrl":"10.1002/epd2.20269","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study was to describe the clinical features of contactin-associated protein-like 2 (CASPR2)-IgG-associated seizures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Nine patients were retrospectively collected from two epilepsy centers. For each patient we obtained a full clinical, neurophysiological, and MRI study along with detection of antineuronal autoantibodies from serum and CSF. The patients were followed up for 1–6 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patients were nine male subjects aged 56–85 years (mean: 66) with a 1- to 14-year (mean: 6,3 median: 6) history of seizures. The seizures were classified as focal onset seizures with impaired awareness, usually preceded by epigastric aura (two), piloerection (two), olfactory hallucinations (two), nausea and dizziness (one). Tonic–clonic seizures were present in five patients. Seizure frequency was high in six cases and sporadic in three. Most patients reported memory impairment (eight) or behavioral/mood changes (four). Interictal EEGs usually showed bilateral or unilateral temporal epileptiform abnormalities. A number of seizures arising from the temporal lobes, with bilateral asynchronous onset, were recorded on long-term video-EEG monitoring in two patients. MRI disclosed nonspecific white matter T2 hyperintensities suggestive of chronic vascular changes in four patients and bilateral T2-FLAIR amygdalo-hippocampal hyperintensity in three cases. Neuropsychological study demonstrated various degrees of cognitive impairment in the majority of cases. Increased titers of CASPR2 autoantibodies were detected in the serum and CSF, which persisted over time in four cases. Drug resistance to common anti-seizure medications was present in seven cases who benefited from immunotherapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>CASPR2-IgG testing should be performed among old male patients with a recent or even not recent onset of focal seizures with impaired awareness particularly when these seizures are accompanied by cognitive impairment or behavioral disturbances. In these cases, anti-seizure medications may be ineffective while immunotherapy may lead to a prompt improvement of seizures and cognitive deficits.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"753-760"},"PeriodicalIF":1.9,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141944205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An interview with Elissa Yozawitz, the 2024 Epileptic Disorders Prize winner 采访 2024 年癫痫疾病奖获得者伊丽莎-约扎维茨。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-08-07 DOI: 10.1002/epd2.20262
Sándor Beniczky
{"title":"An interview with Elissa Yozawitz, the 2024 Epileptic Disorders Prize winner","authors":"Sándor Beniczky","doi":"10.1002/epd2.20262","DOIUrl":"10.1002/epd2.20262","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"730-731"},"PeriodicalIF":1.9,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring an unconventional presentation of Todd's paresis: Orbitofrontal epilepsy with postictal dysgeusia 探索托德瘫痪的非传统表现:伴有发作后言语障碍的轨道额叶癫痫。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-31 DOI: 10.1002/epd2.20267
Aura Gonzalez, Raluca Pana
{"title":"Exploring an unconventional presentation of Todd's paresis: Orbitofrontal epilepsy with postictal dysgeusia","authors":"Aura Gonzalez,&nbsp;Raluca Pana","doi":"10.1002/epd2.20267","DOIUrl":"10.1002/epd2.20267","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"715-717"},"PeriodicalIF":1.9,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CM-Pf deep brain stimulation in polyneuromodulation for epilepsy 多神经调节治疗癫痫的 CM-Pf 深部脑刺激疗法。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-30 DOI: 10.1002/epd2.20255
W. O. Tatum, B. Freund, E. H. Middlebrooks, B. N. Lundstrom, A. M. Feyissa, J. J. Van Gompel, S. S. Grewal
{"title":"CM-Pf deep brain stimulation in polyneuromodulation for epilepsy","authors":"W. O. Tatum,&nbsp;B. Freund,&nbsp;E. H. Middlebrooks,&nbsp;B. N. Lundstrom,&nbsp;A. M. Feyissa,&nbsp;J. J. Van Gompel,&nbsp;S. S. Grewal","doi":"10.1002/epd2.20255","DOIUrl":"10.1002/epd2.20255","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Neuromodulation is a viable option for patients with drug-resistant epilepsies. We reviewed the management of patients with two deep brain neurostimulators. In addition, patients implanted with a device targeting the centromedian-parafascicular (CM-Pf) nuclear complex supplements this report to provide an illustrative case to implantation and programming a patient with three active devices.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A narrative review using PubMed and Embase identified patients with drug-resistant epilepsy implanted with more than one neurostimulator was performed. Combinations of vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS) were identified. We provide a background of a newly reported case of an adult with a triple implant eventually responding to CM-Pf DBS as the third implant following suboptimal benefit from VNS and RNS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In review of the literature, dual-device therapy is increasing in reports of use with combinations of VNS, RNS, and DBS to treat patients with drug-resistant epilepsy. We review dual-device implants with thalamic DBS device combinations, functional neural networks, and programming patients with dual devices. CM-Pf is a new target for DBS and has shown a variable response in focal epilepsy. We report the unique case of 28-year-old male with drug-resistant focal epilepsy who experienced a 75% seizure reduction with CM-Pf DBS as his third device after suboptimal responses to VNS and RNS. After 9 months, he also experienced seizure freedom from recurrent focal to bilateral tonic–clonic seizures. No medical or surgical complications or safety issues were encountered.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We demonstrate safety and feasibility in an adult combining active VNS, RNS, and CM-Pf DBS. Patients with dual-device therapy who experience a suboptimal response to initial device use at optimized settings should not be considered a neuromodulation “failure.” Strategies to combine devices require a working knowledge of brain networks.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"626-637"},"PeriodicalIF":1.9,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141793977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low-cost portable EEG device for bridging the diagnostic gap in resource-limited areas 用于缩小资源有限地区诊断差距的低成本便携式脑电图设备。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-26 DOI: 10.1002/epd2.20266
Sidsel Armand Larsen, Louise Klok, William Lehn-Schiøler, Radu Gatej, Sándor Beniczky
{"title":"Low-cost portable EEG device for bridging the diagnostic gap in resource-limited areas","authors":"Sidsel Armand Larsen,&nbsp;Louise Klok,&nbsp;William Lehn-Schiøler,&nbsp;Radu Gatej,&nbsp;Sándor Beniczky","doi":"10.1002/epd2.20266","DOIUrl":"10.1002/epd2.20266","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To develop a low-cost portable EEG system, with real-time automated guidance, for application in resource-limited areas, to bridge the diagnostic and treatment gap.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We designed, developed, and produced a low-cost system, which records 27-channel EEG plus ECG and streams the signals to an application on a smartphone, which assesses the quality of the signal and gives feedback to the inexperienced user to correct the poor quality signals and reduce artifacts. The application guides the inexperienced user through the steps of recording routine clinical EEG. The recordings are uploaded to a secure cloud, for telemedicine applications. We recruited 10 participants without prior experience with recording EEG. After a brief training session, the participants recorded EEGs following the guidance from the app, without help from human experts. We assessed the usability of the system, with the System Usability Scale (SUS), and we evaluated the impedances and signal quality of the test EEGs recorded by the inexperienced users.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All users completed the test EEG recordings, and none of the recordings were of insufficient quality for clinical use. The SUS score was 90.3 ± 6.8, and the average quality rating was 8.04.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The low-cost, portable EEG system, which uses automated, real-time guidance for conducting EEG recordings, enables inexperienced users to record EEGs of a quality sufficient for clinical applications. This system has the potential to provide EEG services in resource-limited areas, and thereby help bridge the diagnostic and therapeutic gap.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"694-700"},"PeriodicalIF":1.9,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20266","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762343","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}
引用次数: 0
Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort 对 PCDH19 相关癫痫患者的多中心回顾性研究:首个匈牙利队列
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-17 DOI: 10.1002/epd2.20264
Monika Kovacs, Andras Fogarasi, Marta Hegyi, Zsuzsanna Siegler, Anna Kelemen, Monika Mellar, Anna Orbok, Gabor Simon, Kristof Farkas, Monika Bessenyei, Katalin Hollody
{"title":"Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort","authors":"Monika Kovacs,&nbsp;Andras Fogarasi,&nbsp;Marta Hegyi,&nbsp;Zsuzsanna Siegler,&nbsp;Anna Kelemen,&nbsp;Monika Mellar,&nbsp;Anna Orbok,&nbsp;Gabor Simon,&nbsp;Kristof Farkas,&nbsp;Monika Bessenyei,&nbsp;Katalin Hollody","doi":"10.1002/epd2.20264","DOIUrl":"10.1002/epd2.20264","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the Hungarian patient population aged 0–18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4–5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"685-693"},"PeriodicalIF":1.9,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20264","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629181","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}
引用次数: 0
Gyratory seizures as a manifestation of possible generalized epilepsy 回旋性癫痫发作可能是全身性癫痫的一种表现。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-10 DOI: 10.1002/epd2.20247
Gloria Ortiz-Guerrero, Judit M. Perez-Ortiz, Mariya Saify, Duygu Selcen, Anthony L. Fine
{"title":"Gyratory seizures as a manifestation of possible generalized epilepsy","authors":"Gloria Ortiz-Guerrero,&nbsp;Judit M. Perez-Ortiz,&nbsp;Mariya Saify,&nbsp;Duygu Selcen,&nbsp;Anthony L. Fine","doi":"10.1002/epd2.20247","DOIUrl":"10.1002/epd2.20247","url":null,"abstract":"<p>Content available: Video</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"718-720"},"PeriodicalIF":1.9,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141565024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk of behavioral disturbances in pediatric patients with epilepsy and mild to moderate cognitive impairment: A cross-sectional study 患有癫痫和轻度至中度认知障碍的儿科患者出现行为障碍的风险:横断面研究
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-06 DOI: 10.1002/epd2.20263
Carla Schader, Tristan Schmidlechner, Sonia Cornell, Lucia Gerstl, Regina Trollmann, Ingo Borggraefe
{"title":"Risk of behavioral disturbances in pediatric patients with epilepsy and mild to moderate cognitive impairment: A cross-sectional study","authors":"Carla Schader,&nbsp;Tristan Schmidlechner,&nbsp;Sonia Cornell,&nbsp;Lucia Gerstl,&nbsp;Regina Trollmann,&nbsp;Ingo Borggraefe","doi":"10.1002/epd2.20263","DOIUrl":"10.1002/epd2.20263","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of the study was to assess whether children and adolescents with epilepsy are at higher risk of behavioral disturbances when they have concomitant cognitive disturbances.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Behavioral scores were generated using the Child Behavior Checklist (CBCL). Cognitive evaluation was applied by using different age appropriate versions of the Wechsler Intelligence Scale. CBCL scores (total, externalizing, internalizing) were compared between patients with and without intellectual disability (IQ score &lt; 70 and ≥70, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>144 (10.2 mean age, 6.0–17.9 range) patients were recruited for the study. Patients with mild to moderate intellectual disability (full-scale intelligence quotient (FSIQ) &lt; 70) were not at higher risk of behavioral disturbances (total CBCL score ≥ 63) than patients without cognitive impairment. The mean total CBCL score was 62.0 ± 10.6 (range 42.0–83.5, 95% CI 57.9–62.0) and 59.3 ± 10.3 (range 38.0–80.0, CI 57.4–61.2) for patients with FSIQ &lt; 70 and ≥70, respectively. There was no correlation between FSIQ and total CBCL scores. These findings were true for all IQ subcategories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Behavioral disturbances among children and adolescents with epilepsy occur despite the presence or absence of intellectual dysfunction with respect to full-scale IQ.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"676-684"},"PeriodicalIF":1.9,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20263","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545502","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}
引用次数: 0
Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy 临床特征和多模态成像有助于诊断和治疗伴有少突胶质增生和癫痫的轻度皮质发育畸形。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-02 DOI: 10.1002/epd2.20261
Petia S. Dimova, Dimitar Metodiev, Tihomir Todorov, Albena Todorova, Kaloyan Gabrovski, Peter Karazapryanov, Marin Penkov, Yuri Todorov, Yoana Milenova, Denitza Stoyanova, Krassimir Minkin
{"title":"Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy","authors":"Petia S. Dimova,&nbsp;Dimitar Metodiev,&nbsp;Tihomir Todorov,&nbsp;Albena Todorova,&nbsp;Kaloyan Gabrovski,&nbsp;Peter Karazapryanov,&nbsp;Marin Penkov,&nbsp;Yuri Todorov,&nbsp;Yoana Milenova,&nbsp;Denitza Stoyanova,&nbsp;Krassimir Minkin","doi":"10.1002/epd2.20261","DOIUrl":"10.1002/epd2.20261","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a recently described, histopathologically and molecularly defined (&lt;i&gt;SLC35A2&lt;/i&gt;-mutated) type of cortical malformation. Although increasingly recognized, the diagnosis of MOGHE remains a challenge. We present the characteristics of the first six patients diagnosed in Bulgaria, with the aim to facilitate identification, proper presurgical evaluation, and surgical treatment approach in this disease.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Revision of histopathological specimens of 202 patients operated on for drug-resistant focal epilepsy identified four cases with MOGHE. Another two were suggested, based on clinical characteristics and subsequently, were histologically confirmed. Sanger &lt;i&gt;SLC35A2&lt;/i&gt; sequencing on paraffin-embedded or fresh-frozen brain tissue was performed. Analysis of seizure types, neuropsychological profiles, electroencephalographic (EEG), imaging features and epilepsy surgery outcomes was done.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Three out of the six cases (50%) harbored pathogenic &lt;i&gt;SLC35A2&lt;/i&gt; mutations. One patient had a heterozygous somatic variant with uncertain significance. Clinical characteristics included epilepsy onset in infancy (in 100% under 3 years of age), multiple seizure types, and moderate or severe intellectual/developmental delay. Epileptic spasms with hypsarrhythmia on EEG were the initial seizure type in five patients. The subsequent seizure types resembled those in Lennox–Gastaut syndrome. The majority of the patients (&lt;i&gt;n&lt;/i&gt; = 4) presented prominent and persisting autistic features. Magnetic resonance imaging (MRI) showed multilobar (&lt;i&gt;n&lt;/i&gt; = 6) and bilateral (&lt;i&gt;n&lt;/i&gt; = 3) lesions, affecting the frontal lobes (&lt;i&gt;n&lt;/i&gt; = 5; bilaterally in three) and characterized by increased signal on T2/fluid-attenuated inversion recovery (FLAIR). Voxel-based morphometric MRI post-processing and positron emission tomography helped determining the localization and extent of the lesions and presumed epileptogenic zones. After surgery, four patients (66.7%) were seizure-free ≥2 years. Interestingly, all seizure-free patients carried somatic &lt;i&gt;SLC35A2&lt;/i&gt;-alterations.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Epileptic spasms, early prominent neuropsychological disturbances, MRI-T2/FLAIR hyperintense lesions with cortico-subcortical blurring, frequently multilobar and especially frontal, can preoperatively help to suspect MOGHE. Epilepsy surgery is still the only successful treatment option in MOGHE.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 ","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"662-675"},"PeriodicalIF":1.9,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII 一名 ARCLII 患者与 ATP6V0A2 基因变异有关的罕见凝胶痉挛发作。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-07-02 DOI: 10.1002/epd2.20228
Xuan Zhang, Hongjuan Lu, Wei Sun
{"title":"Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII","authors":"Xuan Zhang,&nbsp;Hongjuan Lu,&nbsp;Wei Sun","doi":"10.1002/epd2.20228","DOIUrl":"10.1002/epd2.20228","url":null,"abstract":"<p>Content available: Video</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 4","pages":"530-532"},"PeriodicalIF":1.9,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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