Epilepsy Research最新文献

{"title":"Seizure recurrences after temporal lobe epilepsy surgery in childhood and adolescence: predictive factors, patterns of recurrence, and long-term outcomes","authors":"Ming-Chen Tsai ,&nbsp;Keith Starnes ,&nbsp;Anthony L. Fine ,&nbsp;Katherine C. Nickels ,&nbsp;Elaine C. Wirrell ,&nbsp;Jamie J. Van Gompel ,&nbsp;Kai J. Miller ,&nbsp;Lily C. Wong-Kisiel","doi":"10.1016/j.eplepsyres.2026.107732","DOIUrl":"10.1016/j.eplepsyres.2026.107732","url":null,"abstract":"<div><h3>Background</h3><div>Temporal lobe epilepsy (TLE) is the leading cause of drug-resistant focal epilepsy. Surgery is effective, yet many patients experience postoperative seizure recurrence.</div></div><div><h3>Objective</h3><div>To identify predictors of recurrence and characterize recurrence patterns, treatment responses, and long-term outcomes using a 16-year surgical database.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed children and adolescents (0–19 years) with TLE who underwent resective or destructive temporal lobe surgery at Mayo Clinic, Rochester (2008–2024). All patients underwent scalp EEG phase I monitoring and 1.5 T or 3 T MRI, with invasive monitoring and advanced imaging studies utilized in selected patients when clinically indicated. Patients with prior epilepsy surgery, &lt;1-year follow-up, or without research authorization were excluded. Data were analyzed using descriptive statistics, survival analysis, and Cox proportional hazard models. Seizure recurrence was categorized as acute post-operative seizures (APOS, ≤1 week post-surgery), early recurrence (&gt;1 week–2 years), and late recurrence (&gt;2 years). Delayed seizure freedom was defined as ≥1 year seizure-free before last follow-up after recurrence.</div></div><div><h3>Results</h3><div>Among 61 patients, 34 (55.7 %) had recurrence over a median follow-up of 49 months. Median time to first recurrence was 48 months. Four patients (6.5 %) had APOS; all developed early recurrence. APOS predicted early recurrence (HR = 6.02, 95 % CI = 1.64–22.04, p = 0.006). Delayed seizure freedom was achieved with medication trials in 19 % (5/26) of early and 75 % (6/8) of late recurrences. At last follow-up, 68 % (42/61) were seizure free: 44 % (27/61) since the first surgery and 24 % (15/61) after recurrence.</div></div><div><h3>Conclusion</h3><div>Temporal lobe epilepsy surgery provides durable seizure control in two-thirds of pediatric and adolescent patients. APOS may predict early recurrence, which is often less medically responsive and may warrant repeat surgery.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"221 ","pages":"Article 107732"},"PeriodicalIF":2.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146006812","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":"Status epilepticus in scrub typhus versus tuberculous meningitis: A comparative study","authors":"Jayantee Kalita ,&nbsp;Firoz M. Nizami ,&nbsp;Prakash C. Pandey ,&nbsp;Archna Gupta","doi":"10.1016/j.eplepsyres.2026.107737","DOIUrl":"10.1016/j.eplepsyres.2026.107737","url":null,"abstract":"<div><h3>Background</h3><div>Scrub typhus (ST) and tuberculous meningitis (TBM) are common infections in tropical regions and can present with various neurological manifestations, including seizures and status epilepticus (SE). This study compared the demographic profiles, clinical features, treatment responses, and outcomes of SE in patients with TBM and ST, using data from our patient cohort and existing literature.</div></div><div><h3>Methods</h3><div>Patients with TBM or ST presenting with SE were identified from ongoing prospective registries. Detailed demographic, clinical, laboratory, EEG, and MRI findings, along with treatment response and outcomes, were recorded and compared between the groups.</div></div><div><h3>Results</h3><div>Twenty-eight out of 587 meningitis patient had SE; 17 had TBM and 11 ST. ST patients had lower hemoglobin (p = 0.005), lower platelet counts (p &lt; 0.001), and higher serum creatinine (p = 0.01), bilirubin (p = 0.01), and ALT (p = 0.02) than TBM-SE patients. MRI was abnormal in all TBM-SE patients, but normal in ST-SE. TBM patients had delayed SE (88.2 %), whereas all the ST patients had early onset SE (p &lt; 0.001). TBM-SE required 3 or more antiseizure medications (ASM) and had often refractory (58.8 % vs. 27.3 %) and super-refractory SE (17.6 % vs. 0 %). Mortality was higher in TBM-SE (47.1 %), whereas all ST-SE patients recovered. Only 33 % TBM survivors had good recovery at 6 months. None of the ST patients had recurrence or breakthrough seizure after withdrawal of ASM.</div></div><div><h3>Conclusions</h3><div>SE in TBM is more refractory and associated with higher mortality and disability than in ST. ASM may be safely withdrawn early in ST-SE, whereas TBM-SE requires prolonged treatment.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107737"},"PeriodicalIF":2.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146009406","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":"Assessing an fMRI-guided titration paradigm for microburst VNS therapy","authors":"Kristl Vonck ,&nbsp;Ryan Verner ,&nbsp;Giovanni Ranuzzi ,&nbsp;Roshani Patel ,&nbsp;William O. Tatum ,&nbsp;Lesley Kaye ,&nbsp;Cornelia Drees ,&nbsp;Muhammad Zafar ,&nbsp;Rebecca O’Dwyer ,&nbsp;Jason Begnaud ,&nbsp;Jerzy P. Szaflarski ,&nbsp;on behalf of the Microburst Study Group","doi":"10.1016/j.eplepsyres.2026.107734","DOIUrl":"10.1016/j.eplepsyres.2026.107734","url":null,"abstract":"<div><h3>Rationale</h3><div>VNS is an efficacious therapy for people with epilepsy (PwE), but personalized implementation of VNS dosing and titration could be improved by measuring therapeutic engagement of cortical and subcortical physiology.</div></div><div><h3>Methods</h3><div>People with Drug-Resistant Epilepsy (DRE) were enrolled into a feasibility study using investigational microburst VNS (NCT03446664). An investigational VNS system with conditional approval for stimulation in the magnetic environment was titrated using an fMRI-guided titration approach to determine VNS therapy settings for each individual participant over 6 months. Stimulation parameter combinations that evoked the highest thalamic BOLD response were chosen in an individual participant as the preferred VNS therapy setting.</div></div><div><h3>Results</h3><div>Thirty-two participants were implanted and 31 participants attended the 6-month study visit and at least one prior fMRI study visit. In all participants, significant VNS-evoked thalamic BOLD responses were found. Participants who experienced significant thalamic BOLD signal among multiple stimulation parameter combinations over multiple visits were most likely to respond to µVNS. Participants responded to µVNS with a median reduction in seizure frequency of 42.6 % at 6 months. There were no MRI-related safety issues associated with active VNS during scanning.</div></div><div><h3>Conclusion</h3><div>Titration of VNS using an fMRI-guided approach is feasible and safe in PwE (when using appropriate investigational devices), but our specific biomarker, used in this specific study design, was ultimately too variable to be used for patient-specific titration. An increase in thalamic BOLD signal that occurred across multiple stimulation parameter combinations and multiple visits with microburst settings was associated with seizure response that could be visualized early in the titration process.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"221 ","pages":"Article 107734"},"PeriodicalIF":2.0,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146060854","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":"A systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events","authors":"Antonietta Coppola ,&nbsp;Lisa Moore-Ramdin ,&nbsp;Marco Navetta ,&nbsp;Debopam Samanta","doi":"10.1016/j.eplepsyres.2026.107731","DOIUrl":"10.1016/j.eplepsyres.2026.107731","url":null,"abstract":"<div><h3>Objective</h3><div>The efficacy and safety of a highly purified plant-derived cannabidiol (CBD) oral solution (Epidiolex® [US]/Epidyolex® [EU], EPX) have been established for the treatment of seizures in patients with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. These conditions involve diverse etiologies, suggesting EPX may have broad utility across different seizure types. This systematic literature review (SLR) evaluated studies reporting CBD effectiveness and tolerability in patients with other developmental and epileptic encephalopathies (DEEs) and complex treatment-resistant epilepsies (TREs).</div></div><div><h3>Methods</h3><div>In accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, an SLR was conducted in March 2024 using Embase, PubMed, and Cochrane libraries for publications on complex TREs, CBD, seizure outcomes, and adverse events (AEs). Results were narratively summarized according to epilepsy type.</div></div><div><h3>Results</h3><div>Seizure frequency-related changes were reported in 57 studies including 37 DEEs/TREs comprising 971 patients; most (n=33)(n = 33) were case reports/small case series. Most common diagnoses were focal/multifocal-onset epilepsy (n=401)(n = 401) and Angelman syndrome (n=188).(n = 188). Overall, 47 studies reported seizure frequency reduction in ≥1≥ 1 patient; definitions/thresholds included seizure reduction (n = 18 studies; 20–100 % of patients) and mean/median percent seizure reduction (n = 8 studies; 12–99 % reduction). Twenty-two studies reported ≥ 1 patient was seizure-free for ≥ 48 days.</div><div>AEs experienced while taking CBD were generally mild or moderate and most commonly gastrointestinal, including diarrhea (17–50 %), decreased appetite (7–45 %), and vomiting (5–86 %).</div></div><div><h3>Conclusion</h3><div>CBD may reduce seizure frequency in patients with a range of DEEs and complex TREs. These findings support future studies in these populations.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107731"},"PeriodicalIF":2.0,"publicationDate":"2026-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146009412","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":"Sexual and developmental variability of spike-wave discharges in the taiep rat: A model of H-ABC leukodystrophy","authors":"Carmen Cortes ,&nbsp;Juan M. Ibarra-Hernández ,&nbsp;Gilles van Luijtelaar ,&nbsp;Jose R. Eguibar","doi":"10.1016/j.eplepsyres.2026.107733","DOIUrl":"10.1016/j.eplepsyres.2026.107733","url":null,"abstract":"<div><div><em>Taiep</em> rat has a leukodystrophy caused by a tubulinopathy affecting the β-tubulin 4 A (TUBB4A) gene characterized by hypomyelination and progressive demyelination of the central nervous system. In magnetic resonance imaging <em>taiep</em> rats showed hypomyelination and atrophy of the putamen and cerebellum that resemble human leukodystrophy named hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). In addition, <em>taiep</em> rat has spike-wave discharges (SWDs) in the electroencephalogram (EEG) associated with behavioral interruption of the ongoing activity. This study aims to analyze the characteristics and circadian distribution of SWDs in both sexes throughout the first year of life. We chronically implanted male and female <em>taiep</em> rats aged 3, 6, 9, and 12 months with electrodes in the cerebral cortex, neck muscles, and right eye orbit for 24-hour video-EEG recordings. Offline, we analyzed the number, mean and total duration of SWDs, the latency of the first SWD, and the spectral content using Fast Fourier Transform. A cosinor analysis was applied to 24-hour data to describe circadian distributions of SWD number and mean duration. In both sexes, the number, mean, and total duration of SWDs increased with age; onset occurred earlier in males at 3 months with respect to females that have SWDs at 6 months. The acrophase of the mean duration rhythm was delayed in females. These findings indicate a sexual dimorphism in the SWDs expression and timing during the circadian cycle. In both sexes, the interspike frequency of SWDs was 6.31 showing no change with age, suggesting similar thalamo-cortical circuit properties across all groups. In conclusion, these results clearly demonstrate that hypomyelination and demyelination affect the expression and circadian dynamics of SWDs in both sexes throughout development in <em>taiep</em> rats. In conclusion, <em>taiep</em> rats had a leukodystrophy associated to spike-wave discharges and behavioral arrest that are absence-like epilepsy.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107733"},"PeriodicalIF":2.0,"publicationDate":"2026-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145972842","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":"Antiseizure medication effects on sleep architecture in epilepsy: Glymphatic insights and implications for cognitive decline","authors":"Justyna Swierz ,&nbsp;Michael Doherty ,&nbsp;Sung Ji ,&nbsp;Jeffrey Iliff ,&nbsp;Yeilim Cho","doi":"10.1016/j.eplepsyres.2025.107730","DOIUrl":"10.1016/j.eplepsyres.2025.107730","url":null,"abstract":"<div><div>Disruptions in sleep architecture may contribute to cognitive decline in people with epilepsy (PWE), potentially through impaired glymphatic clearance. In this narrative review, we explore how antiseizure medications (ASMs) influence key sleep stages, particularly slow-wave sleep (SWS) and rapid eye movement (REM) sleep, and consider how these changes may intersect with glymphatic function and cognitive outcomes. SWS supports glymphatic clearance of interstitial waste, including neurotoxic solutes such as amyloid-β and tau. Some ASMs appear to enhance SWS, while others suppress it, suggesting the possibility of differential long-term cognitive effects. We propose that sleep disruption may represent an important but underappreciated factor linking epilepsy and neurocognitive decline. While sleep impairment in epilepsy is often attributed to seizures or interictal activity, ASM-induced alterations in sleep architecture may also play a role. However, this relationship remains largely theoretical and requires further experimental study. We also review the use of diffusion tensor image analysis along the perivascular space (DTI-ALPS) as an emerging imaging method to approximate glymphatic activity. Although DTI-ALPS provides a non-invasive proxy for perivascular water diffusivity, it does not directly measure glymphatic clearance and may be affected by factors such as partial volume effects. Its role in epilepsy research remains exploratory and should be interpreted cautiously. To date, no study has directly examined the combined effects of ASMs, sleep structure, and glymphatic function in a single cohort. We outline opportunities for future research integrating neuroimaging, sleep assessment, and cognitive testing to better understand how sleep-targeted strategies might preserve brain health in epilepsy.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107730"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145938883","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":"Evaluation of epilepsy in 8p-related disorders","authors":"Megan Abbott ,&nbsp;Katie Angione ,&nbsp;Megan Stringfellow ,&nbsp;Kristina Malik ,&nbsp;Margarita Saenz ,&nbsp;Andrea Miele ,&nbsp;Kaiti Syverson ,&nbsp;Bina Maniar ,&nbsp;Jacob Borello ,&nbsp;Lauren Chaby ,&nbsp;Scott Demarest","doi":"10.1016/j.eplepsyres.2025.107720","DOIUrl":"10.1016/j.eplepsyres.2025.107720","url":null,"abstract":"<div><div>8p-related disorders are genetic conditions associated with chromosomal rearrangements on the short arm of chromosome 8. This study aimed to characterize the epilepsy phenotype in patients with 8p-related disorders seen at Children’s Hospital Colorado (CHCO) and/or recorded in the Project 8p Foundation Natural History Study. Key objectives included determining epilepsy prevalence, typical age of seizure onset, efficacy of treatment, and EEG features. A retrospective chart review was conducted for patients seen in the CHCO Neurogenetics Multidisciplinary Clinic and Project 8p Database. Clinical data including demographics, genotype, epilepsy history, and EEG findings were collected. The cohort included 162 unique patients with 8p-related disorders (42 at CHCO, 120 from the Project 8p Natural History Study). Overall, 32 % of patients (53/162) had experienced at least one lifetime seizure: 37 % (30/81) of those with Invdupdel(8p), 35 % (16/46) with 8p deletions, and 15 % (4/26) with 8p duplications. Average age of seizure onset was 3.4 years, with a range from neonatal onset to 16.9 years of age. Among CHCO patients with epilepsy (14/42, 33 %), only one had intractable epilepsy, while 9 became seizure-free, including 5 off medications. EEG abnormalities were present in 18/42, 43 % of the CHCO patients. This study provides the first detailed analysis of epilepsy in a large cohort of patients with 8p-related disorders. While epilepsy is relatively common, it is typically well controlled. Genotype-specific patterns emerged, with Invdupdel(8p) associated with the highest epilepsy prevalence and 8p duplication with the lowest. Further research in larger cohorts is warranted to validate these findings.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107720"},"PeriodicalIF":2.0,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145932898","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":"Primary prophylaxis of seizures in post-hemorrhagic stroke rehabilitation patients","authors":"Valeria Pingue ,&nbsp;Diego Franciotta","doi":"10.1016/j.eplepsyres.2025.107719","DOIUrl":"10.1016/j.eplepsyres.2025.107719","url":null,"abstract":"<div><h3>Background and purpose</h3><div>Prophylactic use of antiseizure medications (ASMs) for optimal management of post-hemorragic stroke (HS) seizures remains controversial. We retrospectively evaluated the influence of seizures on functional outcome, and, in a perspective of prescriptive appropriateness, the association between primary and secondary ASM prophylaxis and seizure occurrence in a large cohort of post-HS rehabilitation patients.</div></div><div><h3>Methods</h3><div>This retrospective observational cohort study included 399 adult patients consecutively admitted to our unit, after acute HS, for neurorehabilitation, between January 1, 2014 and December 31, 2023. The main variables were primary or secondary use of ASMs, and occurrence of acute symptomatic (ASyS), or unprovoked seizures (US). Independent predictors of rehabilitation outcome, measured with the Functional Independence Measure (FIM) scale, were analysed with multiple linear regression.</div></div><div><h3>Results</h3><div>Based on the Glasgow Coma Scale scores on admission, HS was classified as mild in 32.3 % of cases, moderate in 42.6 %, and severe in 25.1 %. Seizures occurred in 92/399 patients (23.1 %). US were associated with worse FIM scores on admission (p = 0.042), and on discharge (p = 0.020). Eleven/98 patients on primary ASM prophylaxis developed US vs 2/209 without ASM (p = 0.0002). The patients on primary, or on secondary prophylaxis presented the worst FIM scores at baseline and on discharge (p &lt; 0.0001 for both). Occurrence of US (p = 0.001), primary (p = 0.047), and secondary prophylaxis (p = 0.047) predicted poor functional outcome independently from age and HS severity. Second generation ASMs were associated with poor outcome more frequently than first generation ASMs (p = 0.013).</div></div><div><h3>Conclusions</h3><div>This study confirms the association between the severity of brain damage and seizures, and supports the notion that long-term prophylaxis with ASMs might not prevent the onset of US and epilepsy after HS. Our findings reinforce the recommendations by the European Stroke Organization and the American Heart Association, and expand the rationale of not using ASMs as primary prophylaxis in post-HS rehabilitation patients.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107719"},"PeriodicalIF":2.0,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145878010","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":"SLC13A5 citrate transporter disorder epilepsy phenotype","authors":"Can Ozlu ,&nbsp;Emily M. Spelbrink ,&nbsp;Tanya L. Brown ,&nbsp;Kimberly L. Nye ,&nbsp;Rayan M. Solidum ,&nbsp;Sydney Cooper ,&nbsp;Carrie R. Best ,&nbsp;Dallas Armstrong ,&nbsp;Judy Liu ,&nbsp;Kimberly Goodspeed ,&nbsp;Brenda E. Porter","doi":"10.1016/j.eplepsyres.2025.107718","DOIUrl":"10.1016/j.eplepsyres.2025.107718","url":null,"abstract":"<div><div>The <em>SLC13A5</em> gene encodes a sodium citrate co-transporter, with loss of function variants causing autosomal recessive developmental and epileptic encephalopathy 25, DEE25. DEE25 is an ultra-rare genetic disorder, known to cause neonatal onset epilepsy as well as later neurocognitive and motor impairments. Here, we characterize the epilepsy phenotype from 30 children and adults enrolled in a prospective natural history study, with frequent visits over 2 years. Our findings reveal that the highest seizure burden and number of ER visits occurred during the first decade of life, with decreased seizure burden and ER visits after 10 years of age. However, older patients remained on an average of 3 antiseizure medications, and some had breakthrough seizures, suggesting ongoing epilepsy risk. Many antiseizure medications were used across patients. Multiple antiseizure medications were felt to be of benefit by caregivers, with valproic acid having the highest utilization with 22 patients and 80 % of caregivers reporting it to be helpful or very helpful. Higher doses of valproic acid correlated with caregiver reported benefit. All DEE25 pediatric epilepsy quality of life module scores were low, consistent with poor quality of life, and stable across the two years, with cognitive impairment, executive functioning being lower than mood and behavior. Most EEGs were abnormal, but less than a third had frequent or abundant interictal epileptiform activity, suggesting that interictal epileptiform activity was not a primary driver of neurocognitive dysfunction.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107718"},"PeriodicalIF":2.0,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145827083","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 and stroke: A mendelian Randomization study","authors":"Siyuan Chen ,&nbsp;Madison Crago ,&nbsp;Alain Lekoubou","doi":"10.1016/j.eplepsyres.2025.107714","DOIUrl":"10.1016/j.eplepsyres.2025.107714","url":null,"abstract":"<div><h3>Background</h3><div>Observational studies have established a relationship between stroke and epilepsy. While most studies have reported an increased risk of epilepsy following a stroke, fewer have concluded that a diagnosis of epilepsy increases the risk of future strokes. Precisely describing the causal relationship between epilepsy and stroke has clinical and public health implications.</div></div><div><h3>Methods</h3><div>We performed a two-sample Mendelian Randomization (MR) to analyze the relationship between epilepsy and stroke. We identified genetic instruments from the Stroke Multiancestry Genome-Wide Association Study [GCST005838 (67,162 cases and 454,450 controls)] and the International League Against Epilepsy Consortium on Complex Epilepsies [Generalized epilepsy: GCST007343 (n_case=3769, n_control=29677), Focal epilepsy: GCST007352 (n_case=9671, n_control=29677)]. We used a significance threshold of p-value &lt;5 × 10⁽⁻⁵⁾ for genetic instrument identification. We included the following epilepsy phenotypes: generalized epilepsy (GE), focal epilepsy (FE), childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), generalized epilepsy with tonic-clonic seizures (GTCS), focal epilepsy with hippocampal sclerosis (focal HS), and focal lesion-negative epilepsy. Linkage disequilibrium (LD) reference panel of 1000 Genome Project pruning with Pearson correlation <span><math><msup><mrow><mi>r</mi></mrow><mrow><mn>2</mn></mrow></msup></math></span> &lt; 0.2 was applied to ensure that the analysis is restricted to independent variants. We used Steiger filtering for reverse causality and Z-scores for generalized epilepsy and focal epilepsy. We employed the following methods for causal effect estimation: inverse-variance weighted (IVW), MR-Egger, MR-RAPS, and MRPRESSO.</div></div><div><h3>Results</h3><div>For the association between GE and stroke (GE&gt; stroke), stroke and GE (stroke &gt; GE), FE and stroke (FE&gt;stroke), and stroke and FE (stroke&gt;FE), the number of SNPs was respectively 253, 213, 187, and 210. GE was associated with an increased risk of stroke [IVW, 95 % confidence interval: 0.058 (0.028–0.088)], and stroke was also associated with an increased risk of GE [IVW: 0.059 (0.026–0.092)]. FE was associated with an increased risk of stroke [IVW: 0.066 (0.029–0.102)] and stroke was associated with an increased risk of FE [IVW: 0.037(0.005–0.068)]. The analysis by epilepsy subtypes revealed an increased risk only among patients with stroke and for the following epilepsy subtypes: JAE, CAE, Focal HS, and Focal lesion negative epilepsy.</div></div><div><h3>Conclusion</h3><div>Our findings support a bidirectional relationship between stroke and epilepsy. Studies on post-stroke epilepsy should account for this bidirectional relationship.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"220 ","pages":"Article 107714"},"PeriodicalIF":2.0,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145827121","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}