Epileptic Disorders最新文献

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Reading-induced reflex orofacial myoclonia in an adolescent girl 一名少女因阅读引起的反射性口面肌张力障碍。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-08-27 DOI: 10.1002/epd2.20265
Xiaoli Wang, Shuyi Qu, Jinxiang Wang, Yonghong Liu
{"title":"Reading-induced reflex orofacial myoclonia in an adolescent girl","authors":"Xiaoli Wang, Shuyi Qu, Jinxiang Wang, Yonghong Liu","doi":"10.1002/epd2.20265","DOIUrl":"10.1002/epd2.20265","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"721-723"},"PeriodicalIF":1.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074442","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
Seizure emergency code strategy: Improving treatment times and hospital outcomes for patients with urgent epileptic seizures 癫痫发作紧急代码策略:改善癫痫紧急发作患者的治疗时间和住院效果。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-08-20 DOI: 10.1002/epd2.20273
Camilo Espinosa-Jovel, Sandra Riveros, Natalia Valencia-Enciso, Alberto Velásquez, Juan Vergara-Palma, Fidel Sobrino-Mejía
{"title":"Seizure emergency code strategy: Improving treatment times and hospital outcomes for patients with urgent epileptic seizures","authors":"Camilo Espinosa-Jovel,&nbsp;Sandra Riveros,&nbsp;Natalia Valencia-Enciso,&nbsp;Alberto Velásquez,&nbsp;Juan Vergara-Palma,&nbsp;Fidel Sobrino-Mejía","doi":"10.1002/epd2.20273","DOIUrl":"10.1002/epd2.20273","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Timely treatment is one of the most relevant prognostic factors in patients with urgent epileptic seizures. Despite the available evidence, treatment times remain suboptimal. The aim of this study was to demonstrate the impact of the “seizure code” in an emergency department, focusing on both treatment times and hospital outcomes of patients with urgent epileptic seizures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An ambispective cohort study was conducted in the emergency department of a public hospital in Bogotá, Colombia. Treatment times and hospital outcomes were evaluated both before and after the implementation of the seizure code.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 336 patients were included (94 in the pre-seizure code period and 242 in the post-seizure code period). Both cohorts were comparable in terms of clinical and demographic baseline characteristics. After the implementation of the seizure code, in-hospital treatment times improved among patients with status epilepticus and seizure cluster. For the group of patients with status epilepticus, the time from arrival to the first benzodiazepine decreased from a median of 100.5 min (IQR: 43–152.5) to a median of 20 min (IQR: 10–45) (<i>p</i> = .0063), and the time from arrival to the first non-benzodiazepine antiseizure medication decreased from a median of 155 min (IQR: 49–194) to a median of 39 min (IQR: 25–57) (<i>p</i> = .0071). For the group of patients with seizure cluster, the time from arrival to the first non-benzodiazepine antiseizure medication decreased from a median of 296 min (IQR: 112.5–409) to a median of 72 min (IQR: 46–111) (<i>p</i> &lt; .001). The seizure code significantly decreased the risk of inappropriate benzodiazepine use (<i>p</i> = .0087), in-hospital seizure recurrence (<i>p</i> &lt; .001), in-hospital mortality (<i>p</i> = .0074), and prolonged hospitalizations (more than 48 h) (<i>p</i> = .0475).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The seizure code shortens the time to treatment, reduces the length of hospital stay, decreases the risk of inappropriate benzodiazepine use, and lowers both the in-hospital seizure recurrence and in-hospital mortality among patients with urgent epileptic seizures.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"761-770"},"PeriodicalIF":1.9,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142005772","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
Superior lesion detection on 3D FSE T1WI with magnetization transfer and CHESS preparation pulses in children with focal epilepsy: Preliminary results 利用磁化转移和 CHESS 准备脉冲对局灶性癫痫患儿进行三维 FSE T1WI 病灶检测效果更佳:初步结果。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-08-16 DOI: 10.1002/epd2.20271
Xing-Chang Wei, Zarina Assis, Martin Sherriff, Walter J. Hader, Juan Pablo Appendino
{"title":"Superior lesion detection on 3D FSE T1WI with magnetization transfer and CHESS preparation pulses in children with focal epilepsy: Preliminary results","authors":"Xing-Chang Wei,&nbsp;Zarina Assis,&nbsp;Martin Sherriff,&nbsp;Walter J. Hader,&nbsp;Juan Pablo Appendino","doi":"10.1002/epd2.20271","DOIUrl":"10.1002/epd2.20271","url":null,"abstract":"<p>In childhood drug-resistant focal epilepsy, the identification of a magnetic resonance imaging lesion significantly affects the management and prognosis, although it is often challenging. Herein we report the preliminary results of a modified MR sequence, in which both magnetization transfer and chemical shift selective preparation pulses are added to a 3D fast spin echo T1-weighted sequence to recognize focal cortical dysplasia. The scan time is short, and the images have expected uniform suppression of the background normal gray and white matter. We report four children with focal epilepsy, in whom the focal cortical and subcortical lesions are superiorly conspicuous on the aforementioned MR sequence compared to the high-resolution fluid-attenuated inversion recovery images obtained with typical epilepsy MR protocols.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"840-846"},"PeriodicalIF":1.9,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20271","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989327","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
A user's guide for the International Classification of Cognitive Disorders in Epilepsy 国际癫痫认知障碍分类》用户指南。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-08-14 DOI: 10.1002/epd2.20268
Bruce Hermann, Robyn M. Busch, Anny Reyes, Kayela Arrotta, Mayu Fujikawa, Victoria Ives-Deliperi, Aimee Dollman, Urvashi Shah, Carrie R. McDonald
{"title":"A user's guide for the International Classification of Cognitive Disorders in Epilepsy","authors":"Bruce Hermann,&nbsp;Robyn M. Busch,&nbsp;Anny Reyes,&nbsp;Kayela Arrotta,&nbsp;Mayu Fujikawa,&nbsp;Victoria Ives-Deliperi,&nbsp;Aimee Dollman,&nbsp;Urvashi Shah,&nbsp;Carrie R. McDonald","doi":"10.1002/epd2.20268","DOIUrl":"10.1002/epd2.20268","url":null,"abstract":"<p>To present the background, rationale, details pertaining to use and essential computational steps, synopsis of findings to date, and future directions for the International Classification of Cognitive Disorders in Epilepsy (IC-CoDE)—an initiative of the ILAE Neuropsychology Task Force. Examined are: (a) the 6 steps leading to the derivation of a cognitive phenotype from neuropsychological test data with an accompanying case example, (b) concise review of all IC-CoDE research to date, (c) summary of identified correlates of IC-CoDE outcomes, and (d) future research and clinical directions for the initiative. The IC-CoDE is computationally uncomplicated with individual or group data and represents a novel approach leading to new insights in the neuropsychology of epilepsy, with applications to diverse datasets internationally informing the reliability and validity of the approach. The IC-CoDE represents a novel approach to the analysis and interpretation of neuropsychological data in epilepsy that offers to advance a global taxonomy of cognitive disorders in epilepsy facilitating international collaboration and big data science.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"567-580"},"PeriodicalIF":1.9,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20268","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977076","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
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
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