Seizure-European Journal of Epilepsy最新文献

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Case series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia 病例系列;NUS1 基因缺失导致进行性肌阵挛性癫痫伴共济失调
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-20 DOI: 10.1016/j.seizure.2024.11.012
Raphaëlle Landais , Jenna Strong , Rhys H Thomas
{"title":"Case series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia","authors":"Raphaëlle Landais ,&nbsp;Jenna Strong ,&nbsp;Rhys H Thomas","doi":"10.1016/j.seizure.2024.11.012","DOIUrl":"10.1016/j.seizure.2024.11.012","url":null,"abstract":"<div><h3>Purpose</h3><div>Mutations in <em>NUS1</em> cause a neurological congenital glycosylation disorder which encompasses a spectrum from developmental encephalopathy to musculoskeletal, hearing, and visual abnormalities. Pathogenic variants include both point mutations and genomic deletions. We report an adult phenotype of progressive myoclonus epilepsy (PME) and a review of cases with a complete or partial deletion of <em>NUS1</em>.</div></div><div><h3>Methods</h3><div>Our patient, currently age 30, presented with an intellectual disability and developed progressive ataxia with myoclonic tremor, alongside generalised absence and tonic-clonic seizures. At age 28 he was diagnosed with a heterozygous 5.0 Mb deletion of 6q22.1q22.31 involving the <em>NUS1</em> gene. We are unable to state whether this is a de novo mutation; his mother tested negative for the gene, but his father passed away before any genetic analysis could be performed. Along with the 22 patients reported in published literature, we identified 21 other genetically similar <em>NUS1</em> deletion variants with sufficient clinical data through ClinVar.</div></div><div><h3>Results</h3><div>The identification of <em>NUS1</em> gene deletion disorder does not lead to a change in treatment but predicts a progressive clinical trajectory. Recognition of this helps differentiate neurological progression from the impact of anti-seizure medicine.</div></div><div><h3>Conclusion</h3><div>Copy number variants are an often-overlooked cause of PME. We also describe features of psychosis and spasticity and suggest that these may also be due to the <em>NUS1</em> deletion, expanding the literature that exists on the phenotype of this very rare genetic disorder.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 1-8"},"PeriodicalIF":2.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142721248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Pregnancy planning in women with epilepsy: A single center observational study with focus on epilepsy type 癫痫妇女的怀孕计划:以癫痫类型为重点的单中心观察研究。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-17 DOI: 10.1016/j.seizure.2024.11.010
Christian Samsonsen , Urtė Karanauskaitė , Emma J. Stenbacka , Ester S. Hjelvik , Lene Rektorli , Eylert Brodtkorb
{"title":"Pregnancy planning in women with epilepsy: A single center observational study with focus on epilepsy type","authors":"Christian Samsonsen ,&nbsp;Urtė Karanauskaitė ,&nbsp;Emma J. Stenbacka ,&nbsp;Ester S. Hjelvik ,&nbsp;Lene Rektorli ,&nbsp;Eylert Brodtkorb","doi":"10.1016/j.seizure.2024.11.010","DOIUrl":"10.1016/j.seizure.2024.11.010","url":null,"abstract":"<div><h3>Purpose</h3><div>To explore various aspects of pregnancy planning in women with epilepsy and to identify factors needing particular attention in the counselling of these patients with focus on epilepsy type.</div></div><div><h3>Methods</h3><div>285 pregnancies in 192 women were collected from the EURAP registry in Trondheim, Norway. Medical records were reviewed to validate diagnoses and types of epilepsy according to revised ILAE classifications.</div></div><div><h3>Results</h3><div>Ten women proved to have non-epileptic conditions, leaving 274 pregnancies in 182 patients for inclusion. In 40 %, the epilepsy was focal, in 45 % generalized, including 18 % with JME. In 14 %, the epilepsy type was unknown. Pregnancies were planned in 64 %; 16 % were unintended and 20 % undetermined. Unintended pregnancies occurred in 15 % with focal and in 17 % with generalized epilepsy and in only 10 % of the JME subgroup. Planned pregnancy was associated with both preconception folic acid intake (<em>p</em> &lt; 0.001) and breastfeeding ≥6 months (<em>p</em> = 0.011). Epilepsy of unknown type had the lowest rates of intended pregnancy and folic acid use.</div></div><div><h3>Conclusion</h3><div>We found no difference in pregnancy planning between focal and generalized epilepsy. Intended pregnancy was strongly associated with both folic acid and breastfeeding. The JME subgroup did not perform worse but rather above average regarding family planning and breastfeeding. The lowest proportion of folic acid intake was found in epilepsy of unknown type in which seizure control is common, and patients may receive less attention from the specialist health service. Appropriate counselling regarding pregnancy should reach out to all fertile women regardless of epilepsy type and seizure control.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 152-158"},"PeriodicalIF":2.7,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-17 DOI: 10.1016/j.seizure.2024.11.009
Omar Alomarı , Ogun Bebek , Ayberk Turkyilmaz , Safiye Gunes Sager
{"title":"Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy","authors":"Omar Alomarı ,&nbsp;Ogun Bebek ,&nbsp;Ayberk Turkyilmaz ,&nbsp;Safiye Gunes Sager","doi":"10.1016/j.seizure.2024.11.009","DOIUrl":"10.1016/j.seizure.2024.11.009","url":null,"abstract":"<div><h3>Background</h3><div>HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the <em>P4HTM</em> gene.</div></div><div><h3>Case Presentation</h3><div>A 6-year and 11-month-old girl with early infantile epileptic encephalopathy and abnormal eye movements since the neonatal period has been presented to our clinic. Despite severe developmental delays and a happy demeanor, she showed significant hypotonia and autistic behaviors. Genetic testing revealed a novel heterozygous splice-site variant (c.436+1G&gt;<em>T</em>) in intron 2 and a previously reported missense variant (c.934G&gt;<em>A</em>; p.E312 K) in exon 6 of the <em>P4HTM</em> gene. Imaging showed cortical atrophy and thin corpus callosum, but no dystonia was observed. The patient's phenotype aligns with most reported cases of HIDEA syndrome, yet developmental epileptic encephalopathy had not been documented previously in such patients, emphasizing the uniqueness of this case.</div></div><div><h3>Conclusion</h3><div>This case is the first to associate <em>P4HTM</em> gene variants with epileptic encephalopathy, expanding the phenotypic spectrum of HIDEA syndrome. It underscores the importance of genetic testing and reanalysis in undiagnosed developmental and epileptic encephalopathies. The novel genetic variations identified in this study underscore the necessity for continuous genetic exploration and personalized clinical management to improve outcomes for patients with this rare but impactful syndrome. Finally, the association between developmental epileptic encephalopathy, the patient's clinical presentation, and EEG findings suggests a compelling link to the P4HTM gene.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 35-38"},"PeriodicalIF":2.7,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 recurrence proportion under antiseizure medication in people living with epilepsy and prolonged seizure remission: A systematic review
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-16 DOI: 10.1016/j.seizure.2024.11.006
Tae-Won Yang , Young-Soo Kim , Do-Hyung Kim , Minjung Kim , Minjun Kim , Jung Sook Yeom , Oh-Young Kwon
{"title":"Seizure recurrence proportion under antiseizure medication in people living with epilepsy and prolonged seizure remission: A systematic review","authors":"Tae-Won Yang ,&nbsp;Young-Soo Kim ,&nbsp;Do-Hyung Kim ,&nbsp;Minjung Kim ,&nbsp;Minjun Kim ,&nbsp;Jung Sook Yeom ,&nbsp;Oh-Young Kwon","doi":"10.1016/j.seizure.2024.11.006","DOIUrl":"10.1016/j.seizure.2024.11.006","url":null,"abstract":"<div><h3>Background and purpose</h3><div>People living with epilepsy (PLWE) may wish to discontinue antiseizure medications (ASMs) after long-term remission. However, fear of relapse may lead to continued ASM use. Previous studies have focused on seizure relapse in PLWE who discontinued ASMs after long-term seizure remission (PLWE off ASM), with limited data on those who continued ASMs (PLWE on ASM).</div></div><div><h3>Methods</h3><div>We conducted a systematic review and meta-analysis of studies from five databases. We included studies with adult PLWE on ASM with long-term follow-up, using a common-effect model for analysis.</div></div><div><h3>Results</h3><div>Seven datasets from six studies were reviewed. Three of the six studies appeared to include some children and adolescents. Significant differences in seizure recurrence proportions (SRP) were found between PLWE whose seizures were controlled on one ASM (PLWE on one ASM) and those whose seizures were controlled on multiple ASMs (PLWE on multiple ASMs) over one to five years of follow-up. After two years, the SRP was 0.1416 for PLWE on one ASM and 0.2479 for PLWE on multiple ASMs. The relative risk (RR) of seizure recurrence for PLWE off ASM compared to PLWE on ASM was 1.9912 after two years, with the RR decreasing over time.</div></div><div><h3>Discussion</h3><div>Among PLWE on ASM, PLWE on one ASM have a lower chance of seizure recurrence than PLWE on multiple ASMs. PLWE off ASM have twice the risk of recurrence compared to PLWE on ASM after two years. This information aids PLWE in making informed decisions about ASM continuation or discontinuation.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 25-34"},"PeriodicalIF":2.7,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Parent-Reported mental health in nearest age siblings of children with Dravet Syndrome in Sweden 瑞典德雷维特综合征患儿近亲年龄兄弟姐妹的父母反映的心理健康状况。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-14 DOI: 10.1016/j.seizure.2024.11.004
Colin Reilly , Björn Bjurulf , Tove Hallböök
{"title":"Parent-Reported mental health in nearest age siblings of children with Dravet Syndrome in Sweden","authors":"Colin Reilly ,&nbsp;Björn Bjurulf ,&nbsp;Tove Hallböök","doi":"10.1016/j.seizure.2024.11.004","DOIUrl":"10.1016/j.seizure.2024.11.004","url":null,"abstract":"<div><h3>Purpose</h3><div>To assess parent-reported mental health in nearest age siblings of children with Dravet Syndrome (DS).</div></div><div><h3>Methods</h3><div>In this observational study parents of 31 children (age 3–16 years; 18 males and 13 females) of nearest age siblings of children with DS completed the SDQ (Strength and Difficulties Questionnaire). Mental health level was determined using validated norms; abnormal ≥ 90 percentile/borderline ≥80 percentile. At risk status was considered borderline/abnormal. Data were analysed using descriptives and linear regression. Significance level was <em>p</em> &lt; 0.05.</div></div><div><h3>Results</h3><div>Only five siblings (16 %) had elevated scores on the SDQ total score. However, 32 % of siblings had difficulties on the Emotional subscale and 26 % on the Peer subscale. Only one child (3 %) had an elevated score on the Prosocial subscale which indicates strengths. Regression analysis did not find any significant associations with the SDQ total score.</div></div><div><h3>Conclusions</h3><div>Siblings of children with DS would not appear to have a higher risk of mental health problems but specific supports may be needed regarding emotional problems. More research is needed to better understand the sibling experience in children with DS and other Developmental and Epileptic Encephalopathies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 113-115"},"PeriodicalIF":2.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Whole-course power evolution in childhood absence epilepsy: A multi-frequency magnetoencephalography study 儿童失神性癫痫的全程功率演变:多频率脑磁图研究
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-14 DOI: 10.1016/j.seizure.2024.11.008
Minghao Li , Xinyi Zhou , Yingfan Wang, Jing Lu, Yinjie Zhu, Peilin Jiang, Ke Hu, Xiaoshan Wang
{"title":"Whole-course power evolution in childhood absence epilepsy: A multi-frequency magnetoencephalography study","authors":"Minghao Li ,&nbsp;Xinyi Zhou ,&nbsp;Yingfan Wang,&nbsp;Jing Lu,&nbsp;Yinjie Zhu,&nbsp;Peilin Jiang,&nbsp;Ke Hu,&nbsp;Xiaoshan Wang","doi":"10.1016/j.seizure.2024.11.008","DOIUrl":"10.1016/j.seizure.2024.11.008","url":null,"abstract":"<div><h3>Objective</h3><div>This study explores the whole-course neuromagnetic activity changes in childhood absence epilepsy (CAE) using multifrequency magnetoencephalogram (MEG) analysis. We aim to uncover the underlying neurophysiological mechanisms and identify functional signal targets with potential clinical applications.</div></div><div><h3>Methods</h3><div>We recruited 37 drug-naive children with CAE and collected magnetoencephalography (MEG) data from 62 seizures and interictal periods using a CTF-275 channel MEG system. The seizure course was segmented with temporal unification and subjected to dynamic frequency band analysis. Minimum norm estimation combined with Welch's method was employed for spectral power calculation, followed by correlation analysis between power and seizure duration.</div></div><div><h3>Results</h3><div>Whole-brain magnetic source power changes in 2–60 Hz largely paralleled the progression of spike and wave discharges (SWDs), while power in 60–90 Hz was suppressed during seizures. Alpha band (8–12 Hz) activity showed a prompt loss of occipital dominance at seizure onset, with concurrent elevation in frontal alpha activity. This frontal alpha dominance persisted throughout the ictal period and reverted to occipital dominance at termination. Beta and gamma1 band (15–59 Hz) activity characteristically declined before SWDs cessation. The power of SWDs during ictal period was negatively correlated with seizure duration.</div></div><div><h3>Conclusion</h3><div>Spectral power analysis of neuromagnetic signals throughout CAE process identifies specific frequency-dependent characteristic changes, among which, the distribution of alpha band (8–12 Hz) activity is closely related to absence manifestations, beta band (15–29 Hz) power decline induces seizure termination. Additionally, ictal SWDs power can serve as a neuroimaging indicator of epilepsy severity.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 9-17"},"PeriodicalIF":2.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142721247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Visual acuity in the context of retinal neuroaxonal loss in people with epilepsy 癫痫患者视网膜神经轴突缺失情况下的视敏度。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-14 DOI: 10.1016/j.seizure.2024.10.019
Luisa Delazer , Joachim Havla , Soheyl Noachtar , Elisabeth Kaufmann
{"title":"Visual acuity in the context of retinal neuroaxonal loss in people with epilepsy","authors":"Luisa Delazer ,&nbsp;Joachim Havla ,&nbsp;Soheyl Noachtar ,&nbsp;Elisabeth Kaufmann","doi":"10.1016/j.seizure.2024.10.019","DOIUrl":"10.1016/j.seizure.2024.10.019","url":null,"abstract":"<div><h3>Objective</h3><div>Recent studies reported a significant retinal neuroaxonal loss in people with epilepsy (PWE). However, the impact of these structural alterations on visual function, i.e., visual acuity is yet unknown.</div></div><div><h3>Methods</h3><div>In this prospective cohort study, 70 PWE and 76 healthy controls (HC), all aged 18–55 years, underwent an assessment of visual acuity with 100 % high contrast (HCVA) and 2.5 % low contrast (LCVA) Sloan letter charts. Thickness of the global peripapillary retinal nerve fiber layer (G-pRNFL) and volume of the ganglion cell inner plexiform layer (GCIP) were assessed with spectral-domain optical coherence tomography (OCT). For the statistical analyses, the epilepsy group was subdivided into PWE with sodium channel blocking (SCB)-drug intake (<em>n</em> = 52) and PWE without SCB-drug intake (<em>n</em> = 18), since an effect of SCB-drugs on visual perception has been reported previously.</div></div><div><h3>Results</h3><div>The overall PWE cohort presented significantly lower structural retinal measures, i.e., G-pRNFL thickness (97.57 ± 9.06 µm) and GCIP volume (1.99 ± 0.13 mm<sup>3</sup>) than HC (101.31 ± 8.28 µm, <em>p</em> = .01; 2.10 ± 0.15 mm<sup>3</sup>, <em>p</em> &lt; .001). Subgroup analyses revealed that PWE who were treated with SCB-drugs had a significantly reduced G-pRNFL thickness (96.61 ± 9.70 µm, <em>p</em> = .01) and GCIP volume (1.98 ± 0.14mm<sup>3</sup>, <em>p</em> &lt; .001) compared to HC, while PWE without SCB-drugs (100.36 ± 6.32 µm, 2.01 ± 0.13 mm<sup>3</sup>) did not differ from HC or PWE with SCB-drugs. In visual acuity tests (HCVA and LCVA), the overall PWE cohort (52.28 ± 8.56; 31.71 ± 8.49) scored significantly lower than HC (56.57 ± 4.74, <em>p</em> = .001; 35.13 ± 5.50, <em>p</em> = .04). In subgroup analyses only PWE with SCB-drugs presented significantly lower HCVA (51.25 ± 9.35, <em>p</em> = .003) and LCVA (30.04 ± 8.93, <em>p</em> = .03) scores compared to HC, while visual acuity scores did not differ between PWE without SCB-drugs (55.25 ± 4.75, 36.53 ± 4.50) and HC. PWE with SCB-drugs had significantly lower LCVA scores than PWE without SCB-drugs (<em>p</em> = .03). Importantly, no association was found between visual acuity scores and structural parameters, neither in the overall sample, nor in any of the subgroups.</div></div><div><h3>Significance</h3><div>Retinal neuroaxonal loss in PWE was not associated with reduced visual acuity under high and low contrast. Instead, our findings reinforce SCB-drug intake as an important factor for reduced visual acuity under high and low contrast.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 116-122"},"PeriodicalIF":2.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Ictal tachycardia in children with epilepsy 癫痫患儿的异位性心动过速。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-13 DOI: 10.1016/j.seizure.2024.11.007
Victoria San Antonio-Arce , Anne-Kathrin König , Kerstin Alexandra Klotz , Jan Schönberger , Andreas Schulze-Bonhage , Julia Jacobs-Le Van
{"title":"Ictal tachycardia in children with epilepsy","authors":"Victoria San Antonio-Arce ,&nbsp;Anne-Kathrin König ,&nbsp;Kerstin Alexandra Klotz ,&nbsp;Jan Schönberger ,&nbsp;Andreas Schulze-Bonhage ,&nbsp;Julia Jacobs-Le Van","doi":"10.1016/j.seizure.2024.11.007","DOIUrl":"10.1016/j.seizure.2024.11.007","url":null,"abstract":"<div><h3>Background</h3><div>Changes in heart rate (HR) may provide an extracerebral indicator of seizure onset. The purpose of this study is to assess the frequency and timing of presentation of ictal tachycardia in a larger series of children with epilepsy grouped in different age groups as well as the influence of seizure characteristics.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed 732 seizures of 195 patients aged 0 to 14 (median 6.91) years with epilepsy of any cause. Patients were grouped according to the age in groups (1) &lt;1 year (<em>n</em> = 18); (2) 1–2 years (<em>n</em> = 26); (3) 2–6 years (<em>n</em> = 43); (4) 6–10 years (<em>n</em> = 44); and (5) 10–14 years (<em>n</em> = 64). HR was assessed visually during the seizures and compared with HR 1 min before seizure onset. The time from seizure onset to ictal tachycardia, defined as an increase in HR by at least 33 %, was described. Ictal tachycardia was considered early if occurring in the first 10 s.</div></div><div><h3>Results</h3><div>Ictal tachycardia occurred in at least one seizure in 70.3 % of patients and in 51.1 % of seizures. It was more frequent and earlier in focal seizures and in seizures occurring in sleep. &gt;30 % of patients had ictal tachycardia in all of their seizures, this being more frequent in the age groups 6–10 and 10–14 years.</div></div><div><h3>Conclusions</h3><div>Children older than 6 years especially with focal seizures during sleep could be ideal candidates for warning devices or stimulation therapies triggered by tachycardia detection. Future studies should aim to assess the implications in relation to the risk of SUDEP.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 128-132"},"PeriodicalIF":2.7,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Safety profile of abdominal magnetic resonance imaging (MRI) performed for renal disease surveillance in tuberous sclerosis complex patients with vagus nerve stimulation 为监测接受迷走神经刺激治疗的结节性硬化症复合体患者的肾脏疾病而进行的腹部磁共振成像(MRI)的安全性概况:对接受迷走神经刺激的结节性硬化症患者进行磁共振成像的安全性。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-08 DOI: 10.1016/j.seizure.2024.11.005
Ethan Sage , Asim F. Choudhri , Jorge A. Lee-Diaz , John Bissler , James W. Wheless
{"title":"Safety profile of abdominal magnetic resonance imaging (MRI) performed for renal disease surveillance in tuberous sclerosis complex patients with vagus nerve stimulation","authors":"Ethan Sage ,&nbsp;Asim F. Choudhri ,&nbsp;Jorge A. Lee-Diaz ,&nbsp;John Bissler ,&nbsp;James W. Wheless","doi":"10.1016/j.seizure.2024.11.005","DOIUrl":"10.1016/j.seizure.2024.11.005","url":null,"abstract":"<div><h3>Introduction</h3><div>Individuals with tuberous sclerosis complex (TSC) often present with refractory epilepsy and may be undergoing treatment with vagus nerve stimulation (VNS) to control seizures. Surveillance magnetic resonance imaging (MRI) is necessary to monitor for the renal angiomyolipomas associated with TSC; however, MRI of the abdomen is not approved for patients withVNS therapy. We have many TSC patients with refractory epilelpsy who benefitted from VNS therapy, so we developed an MRI protocol that allows MRI of the abdomen to be performed in these patients to permit safe imaging of their kidneys. Here we report our results using this protocol.</div></div><div><h3>Methods</h3><div>We performed a retrospective review for all TSC patients seen from 01/01/1997 to 10/01/2022 at a single center to determine VNS implantation status. Patients with VNS implants and abdomen imaging performed according to the protocol for kidney surveillance were included.</div></div><div><h3>Results</h3><div>Sixteen patients with 48 total MRIs of the abdomen were found: 34 (71 %) scans were conducted under sedation and 14 (29 %) without sedation. None of the patients reported any adverse effects (pain or discomfort). No instances of VNS dysfunction were noted when re-interrogating the device immediately after completion of the imaging studies or at later neurology follow-up appointments. All MRI scans were of good quality for interpretation.</div></div><div><h3>Conclusion</h3><div>Abdominal MRIs performed in typical VNS exclusion zones were not associated with adverse events or VNS dysfunction. We believe this protocol is safe and permits the best method for monitoring renal disease in TSC patients with VNS.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 148-151"},"PeriodicalIF":2.7,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Corpus callosotomy for refractory epileptic spasms: Systematic review and meta-analysis 胼胝体切开术治疗难治性癫痫痉挛:系统回顾和荟萃分析。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-07 DOI: 10.1016/j.seizure.2024.11.001
Robyn Whitney , Hiroshi Otsubo , Jessie Cunningham , Kevin C. Jones , Rajesh RamachandranNair , Maryam Nabavi Nouri , Elizabeth J Donner , George M Ibrahim , Ravindra Arya , Puneet Jain
{"title":"Corpus callosotomy for refractory epileptic spasms: Systematic review and meta-analysis","authors":"Robyn Whitney ,&nbsp;Hiroshi Otsubo ,&nbsp;Jessie Cunningham ,&nbsp;Kevin C. Jones ,&nbsp;Rajesh RamachandranNair ,&nbsp;Maryam Nabavi Nouri ,&nbsp;Elizabeth J Donner ,&nbsp;George M Ibrahim ,&nbsp;Ravindra Arya ,&nbsp;Puneet Jain","doi":"10.1016/j.seizure.2024.11.001","DOIUrl":"10.1016/j.seizure.2024.11.001","url":null,"abstract":"<div><h3>Objective</h3><div>We systematically reviewed the existing literature on the efficacy of corpus callosotomy (CC) in children and adults with refractory epileptic spasms (ES) and analyzed clinical determinants of seizure outcomes.</div></div><div><h3>Methods</h3><div>The Preferred Report Items for Systematic Reviews and Meta-Analysis Guidelines (PRISMA) were followed. We systematically searched MEDLINE, EMBASE and Cochrane databases up to December 2023 for original research articles on using CC to treat refractory ES. The primary outcome measure was the proportion of study participants who achieved seizure freedom following initial CC at the last follow-up. Meta-regression using mixed-effects models was performed to obtain clinical determinants of seizure outcomes.</div></div><div><h3>Results</h3><div>A total of 12 studies were included (253 individuals). Initial complete total CC was most common (<em>n</em> = 218/253, 86%), followed by anterior CC (<em>n</em> = 29/253, 12%) and other forms of CC (i.e., anterior to posterior, posterior, staged total) (<em>n</em> = 6/253, 2%). The pooled proportion of patients achieving spasm freedom following CC was 0.31 (95% CI: 0.22, 0.42) (mean follow-up 47 months). Meta-regression showed that structural etiology and mean age at the time of CC were significant moderators of the pooled effect. For every 1% increase in the proportion of structural etiology, the proportion of spasm-free outcome was found to reduce by 0.45 (95% CI: -0.86, -0.03, <em>p</em> &lt; 0.0001). In addition, increasing the mean age by 1 month led to a reduction in the proportion of spasms-free patients by 0.003 (95% CI: -0.005, -0.0006, <em>p</em> = 0.01). Sixty-two individuals (24%) from seven studies underwent further surgery for residual ES; 34 became spasm free (55%).</div></div><div><h3>Conclusions</h3><div>Corpus callosotomy may be an effective treatment option in selected individuals with refractory epileptic spasms. Structural aetiologies and increased age at the time of corpus callosotomy are important clinical determinants. In some cases, CC may lead to further epilepsy surgery.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 159-167"},"PeriodicalIF":2.7,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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