Epileptic Disorders最新文献

{"title":"Electrographic status epilepticus or encephalopathy in baclofen intoxication?","authors":"Mariam H. Hleuhel, Christoph P. Beier, Thomas Krøigård","doi":"10.1002/epd2.20282","DOIUrl":"https://doi.org/10.1002/epd2.20282","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of genetic testing in adult patients with unexplained epilepsy.","authors":"Chi-Ting Chung, Ni-Chung Lee, I-Ting Lin, Pin-Yu Chen, Tun Jao","doi":"10.1002/epd2.20286","DOIUrl":"https://doi.org/10.1002/epd2.20286","url":null,"abstract":"<p><strong>Objective: </strong>Genetic causes are often overlooked in patients with epilepsy of unknown etiology, particularly in adults. We aimed to evaluate clinical features of genetic epilepsy and the utility of genetic testing.</p><p><strong>Methods: </strong>We retrospectively screened consecutive unrelated adult epilepsy patients at an epilepsy clinic from April 2022 to May 2023. Patients with unknown etiology or special brain lesions were classified as unexplained epilepsy. In them, patients with young-onset seizures or family history of seizures who were recommended for and ultimately underwent genetic testing using either panel next-generation sequencing (NGS) or whole-exome sequencing (WES) were enrolled. A definite or probable genetic diagnosis was established through genotype-phenotype correlation. We compared the demographic characteristics between genetic epilepsy and other etiologies.</p><p><strong>Results: </strong>Of the 374 adult epilepsy patients, 258 were classified as unexplained epilepsy, 129 were suspected of having genetic epilepsy due to young-onset seizures or a positive family history, 33 underwent genetic testing; 13 harbored variants classified as pathogenic, and 6 reached a definite genetic diagnosis, resulting in a yield of 18%. Among the 27 patients without a definite genetic diagnosis, 7 had a nongenetic structural etiology. Patients with genetic etiology exhibited greater multisystem involvement particularly multiple structural anomalies and early childhood-onset seizures, but wasn't directly correlated with young-onset seizures or a positive family history. The diagnostic yield was comparable between panel NGS and WES.</p><p><strong>Significance: </strong>In adult patients with unexplained epilepsy, genetic epilepsy is more associated with multisystem involvement and multiple structural anomalies but not family history of seizures or young-onset seizures.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of motion signal profiles of tonic-clonic, tonic, hyperkinetic, and motor seizures extracted from nocturnal video recordings.","authors":"Petri Ojanen, Csaba Kertész, Jukka Peltola","doi":"10.1002/epd2.20284","DOIUrl":"https://doi.org/10.1002/epd2.20284","url":null,"abstract":"<p><strong>Objective: </strong>In this study, characteristics of signal profiles formed by motion, oscillation, and sound signals were analyzed to evaluate generalizability and variability in a single patient setting (intra-patient variability) and between patients (inter-patient variability). As a secondary objective, the effect of brivaracetam intervention on signal profiles was explored.</p><p><strong>Methods: </strong>Patient data included 13 hyperkinetic seizures, 65 tonic seizures, 13 tonic-clonic seizures, and 138 motor seizures from 11 patients. All patients underwent an 8-week monitoring, and after a 3-week baseline, brivaracetam was initiated. Motion, oscillation, and sound features extracted from the video were used to form signal profiles. Variance of signals was calculated, and combined median and quartile visualizations were used to visualize the results. Similarly, the effect of intervention was visualized.</p><p><strong>Results: </strong>Hyperkinetic motion signals showed a rapid increase in motion and sound signals without oscillations and achieved low intra-patient variance. Tonic component created a recognizable peak in motion signal typical for tonic and tonic-clonic seizures. For tonic seizures, inter-patient variance was low. Motor signal profiles were varying, and they did not form a generalizable signal profile. Visually recognizable changes were observed in the signal profiles of two patients.</p><p><strong>Significance: </strong>Video-based motion signal analysis enabled the extraction of motion features characteristic for different motor seizure types which might be useful in further development of this system. Tonic component formed a recognizable seizure signature in the motion signal. Hyperkinetic and motor seizures may have not only significantly different motion signal amplitude but also overlapping signal profile characteristics which might hamper their automatic differentiation. Motion signals might be useful in the assessment of movement intensity changes to evaluate the treatment effect. Further research is needed to test generalizability and to increase reliability of the results.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methohexital‐induced seizure during Wada test: A case report and alternative evaluation with etomidate","authors":"Monika Thapa, Amber Goins, Pradeepthi Badugu, Jamie Toms, Amey Savardekar, Mostafa Hotait, Roohi Katyal","doi":"10.1002/epd2.20287","DOIUrl":"https://doi.org/10.1002/epd2.20287","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eye closure‐induced seizures in Gaucher disease and progressive myoclonus epilepsy","authors":"Catarina Serrão, Alexandre Aldomiro, Sara Parreira, Ana Franco, Leonor Correia Guedes, Carla Bentes, Ana Rita Peralta","doi":"10.1002/epd2.20274","DOIUrl":"https://doi.org/10.1002/epd2.20274","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142188503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developmental and epileptic encephalopathies after successful treatment of pediatric ALL: A case series and review of literature","authors":"Vanita Shukla, Sylvia Cheng, Juliette Hukin, Linda Huh, Anita N. Datta","doi":"10.1002/epd2.20280","DOIUrl":"https://doi.org/10.1002/epd2.20280","url":null,"abstract":"Successful treatment of acute lymphoblastic leukemia (ALL) requires multiagent chemotherapy regimens and central nervous system prophylaxis, including intrathecal methotrexate. Although acute symptomatic seizures can occur during ALL treatment, epilepsy is less common. Furthermore, drug resistant epilepsy (DRE) is rare, presenting with two phenotypes: focal epilepsy, such as temporal lobe, or epileptic encephalopathies (EE), such as Lennox–Gastaut syndrome (LGS). For ALL survivors, the development of DRE has significant impact on morbidity, mortality, and quality of life. We describe four patients with ALL remission, who developed EEs, of which 3 had LGS. Mean age at ALL diagnosis was 1.9 years; range 1.1–2.5 years. All, but one, had normal development prior to ALL. No patient had CNS leukemic involvement. All patients received CNS prophylaxis with intrathecal methotrexate, without cranial radiotherapy. Three had symptomatic methotrexate neurotoxicity during treatment. The mean age at first seizure was 5.6 years; range 3.9–7.5 years, with a mean latency of 3.7 years from ALL diagnosis. All patients developed drug resistant EEs, moderate intellectual disability, and neuropsychiatric co‐morbidities. Two patients had a minimal response to corpus callosotomy (CC), and one did not respond the ketogenic diet. Successful treatment of childhood ALL is rarely associated with the development of DRE and EEs. Young age at ALL diagnosis (&lt;3 years) may be a predisposing factor. Palliative treatments, including ketogenic diet and CC have limited benefit in these patients. Individual genetic susceptibility to MTX toxicity is likely related to epileptogenesis, and further research is required for epilepsy biomarkers.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142188504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral Todd's paralysis in a patient with left fronto‐opercular epilepsy","authors":"Daniela Santos Oliveira, Helena Rocha, Duarte Vieira, Manuel Rito, Ricardo Rego","doi":"10.1002/epd2.20278","DOIUrl":"https://doi.org/10.1002/epd2.20278","url":null,"abstract":"Postictal paresis (“Todd's paralysis”) is commonly observed as a unilateral, transient motor weakness, lasting minutes to hours, after focal or focal to bilateral tonic–clonic seizures, contralateral to the epileptogenic zone. Bilateral postictal paresis is exceedingly rare and could be misinterpreted, especially if the preceding convulsive phase was not witnessed. An 18‐year‐old right‐handed male patient with refractory focal epilepsy with seizure onset at age 3 years, was admitted for presurgical video‐EEG monitoring. His seizures were predominantly nocturnal, consisting of a laryngeal somatosensory aura, occasionally evolving to bilateral tonic or tonic–clonic seizures with occasional asymmetrical limb extension during the tonic phase (right arm extension). Postictally, consciousness recovery was fast, if ever lost. At that stage, we documented severe dysarthria and bilateral symmetrical arm paresis lasting several minutes. The ictal pattern and interictal epileptiform activity were projected on the fronto‐central midline. Brain MRI was highly suggestive of a bottom‐of‐sulcus dysplasia with underlying transmantle sign on the left premotor, fronto‐opercular region and an FDG‐PET‐CT showed a concordant left fronto‐operculo‐insular hypometabolism. A complete lesionectomy was performed, with the additional guidance of intraoperative electrocorticography, resulting in sustained seizure freedom. Anatomo‐pathology confirmed a type 2b focal cortical dysplasia. We speculate that, in our patient, a left fronto‐opercular ictal onset with an early spread to both primary motor cortices and relative sparing of consciousness networks allowed the emergence of a clinically detectable postictal bilateral paresis.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142188505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.","authors":"Ann Mertens, Maria T Papadopoulou, Matthildi Athina Papathanasiou Terzi, Gaëtan Lesca, Mateusz Biela, Robert Smigiel, Eleni Panagiotakaki","doi":"10.1002/epd2.20272","DOIUrl":"https://doi.org/10.1002/epd2.20272","url":null,"abstract":"<p><p>We report on an 11 year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work-up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto-immune screening) was not conclusive. A genetic analysis with whole-exome sequencing demonstrated a de novo heterozygous mutation in the ATP1A3 gene (c.2232C>G, p.Asn744Lys). A 48 h video-EEG monitoring that was conducted in our unit later confirmed the absence of ictal discharge during an episode of hemidystonia, demonstrating its non-epileptic etiology. However, several discharges of generalized spike waves, which were facilitated by intermittent photic stimulation and eyelid closure were recorded, of which a few were associated with eyelid myoclonia. Taken together, these findings are characteristic of epilepsy with eyelid myoclonia. The clinical picture of this patient partially fulfills the diagnostic criteria of relapsing encephalopathy with cerebellar ataxia as well as alternating hemiplegia of childhood. It is increasingly recognized that the distinct syndromes described with ATP1A3 mutations are overlapping and could be identified in the same patients. Certain variations in ATP1A3 have been linked to an increased risk of developing generalized epilepsy syndromes. We hereby present the second case in the literature of a patient with epilepsy with eyelid myoclonia with an ATP1A3-related neurological disorder.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations.","authors":"Yiqi Zhang, Xianyun Liu, Xi Peng","doi":"10.1002/epd2.20277","DOIUrl":"https://doi.org/10.1002/epd2.20277","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality of life and cannabis use among patients with drug-resistant epilepsy-An observational study from a Canadian tertiary care referral center.","authors":"Kanika Jhanji, Zaitoon Shivji, Marion Lazaj, Lysa Boisse Lomax, Gavin P Winston, Garima Shukla","doi":"10.1002/epd2.20276","DOIUrl":"https://doi.org/10.1002/epd2.20276","url":null,"abstract":"<p><strong>Objective: </strong>Very few publications have reported the impact of artisanal cannabis use on overall quality of life among people with drug-resistant epilepsy. This study aimed to evaluate the association of artisanal cannabis use among adults with drug-resistant epilepsy with quality of life, and to determine if an association exists between Quality-of-Life in Epilepsy Inventory-31 (QOLIE-31) 'T scores' and different clinical variables.</p><p><strong>Methods: </strong>This study included patients admitted to a Canadian tertiary care epilepsy center as part of a larger study. These patients were confirmed to have drug-resistant epilepsy by an epileptologist at the Ambulatory Epilepsy Clinic. Patients were categorized into cannabis users (CAN group) (n = 25) and Non-cannabis users (Non-CAN group) (n = 21). Data was collected on RedCap® for epilepsy and cannabis use details. These were analyzed for an association using a binary multivariable logistic regression model between QOLIE-31 'T scores' and age, sex, epilepsy duration, age at initiation of use, duration of cannabis use and psychiatric related comorbidity for all patients. Additionally, different 'T subscores' of the questionnaire were compared between the CAN group and Non-CAN group.</p><p><strong>Results: </strong>A statistically significant difference between the CAN group and Non-CAN group for the T subscore 'energy and fatigue' (p = .004) was found, with the CAN group scoring higher. However, for the 'overall T score' between the two groups there was no statically significant difference (p = .11). Additionally, a significant negative correlation between 'overall T score' and cannabis use disorder (p = .032) was found.</p><p><strong>Significance: </strong>This study provides new data on association of quality of life in epilepsy with cannabis use and can serve as a foundation for larger future studies to better assess this association.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134354","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}