Background Tuberous Sclerosis Complex (TSC) is a rare autosomal, genetic condition associated with epilepsy, neurodevelopmental challenges and multisystem involvement. While clinical manifestations of TSC are well documented, there is limited evidence on the lived experiences of people living with TSC (PLW) and their families. This study reports on these experiences in the Republic of Ireland (ROI). Objective To explore the lived experiences of people living with TSC (PLW TSC) and their families in the ROI. Methods A qualitative, phenomenological study was conducted involving thirty-four semi-structured interviews with PLW TSC and their families. Data were analysed using reflexive thematic analysis, following established methodological practices. Results The complexity and variability of TSC were reflected in the heterogeneity of participant experiences. Managing the progressive, multiorgan nature of TSC was arduous, while resilience in the face of TSC was evidenced. Difficult to control epilepsy and/or Tuberous Sclerosis Neuropsychiatric Disorders (TAND) were experienced as particularly problematic. Entire families experienced emotional strain. Fragmented TSC care, perceived inadequate health, social and educational services and poor disease awareness in the healthcare professional community, saw people feeling stressed and isolated. Conclusion PLW TSC and their families, face multidimensional challenges in coping with TSC in their daily lives, and in their interactions with the healthcare system. There is an urgent need to provide holistic coordinated health and social care and increase disease awareness among the clinical community.
Introduction The transition of epilepsy care from childhood to adulthood is a complex process that directly impacts treatment adherence, quality of life, and clinical outcomes. In Colombia, the implementation of structured transition programs is limited, representing a critical gap in care. Objective To assess the knowledge, attitudes, and perceptions regarding the transition in epilepsy care among residents and professionals in neurology and neuropediatrics in Colombia. Methods A mixed-methods study with a convergent design was conducted. The quantitative component included 60 participants (29 adult neurologists and 31 neuropediatricians) who completed a structured questionnaire. The qualitative component was conducted through focus groups (n = 8) using a phenomenological approach. Bivariate statistical analyses and odds ratio calculations were performed. Qualitative analysis was conducted using thematic coding. Results were integrated through methodological triangulation using joint matrices. Results No significant differences were found in most variables related to knowledge and practices. However, pediatric neurologists reported higher levels of training in transition care (52% vs. 21%; p = 0.013) and placed greater emphasis on psychosocial aspects and patient autonomy. The availability of formal protocols was low in both groups. Qualitative analysis revealed structural barriers such as system fragmentation, lack of coordination, and the absence of defined processes. Triangulation showed a predominance of convergent findings in emotional dimensions and patient-centered care, and divergences in organizational aspects of the health system. Conclusions There is a shared understanding of the transition process, but structural and training gaps persist that limit its implementation. It is necessary to develop structured programs, strengthen professional training, and improve coordination between levels of care. These findings should be interpreted considering the study’s limitations, including the small sample size, convenience sampling, and the limited qualitative sample.
OBJECTIVE:To develop questionnaires assessing physical activity (PA) across life domains, exercise and perceived fitness that are suitable for patients with difficult-to-treat epilepsy and/or functional/dissociative seizures (FDS), explore their psychometric properties, and examine the extent of PA, exercise and perceived fitness. METHODS:We developed a questionnaire on seizures and physical activity (QESA) based on the International Physical Activity Questionnaire, and two short instruments for exercise and perceived fitness. We analyzed data from the baseline assessment of a prospective study on an exercise and PA program for patients with epilepsy (PWE) and/or FDS. Retest reliability and construct validity were examined, while the extent of PA and perceived fitness were analyzed mainly descriptively. RESULTS:We included 240 inpatients (146 with epilepsy without FDS, 94 with FDS ± epilepsy) who were mostly not seizure-free (86.6%) and often had psychiatric comorbidities (65.4%). Retest reliabilities for the QESA total score, exercise and perceived fitness were fair to good (intraclass correlation coefficient: 0.54-0.75) and correlation analyses provided preliminary evidence supporting construct validity. PA was low, especially at work (60.0% without PA) and during leisure-time (41.3% without PA). PWE reported less exercise than those with FDS (no exercise: 57.2% vs. 42.6%, p = 0.038). CONCLUSION:The QESA may provide a practical approach to assess PA across life domains in patients with difficult-to-treat epilepsy and/or FDS and the perceived fitness scale is a useful supplement. The level of PA in patients with difficult-to-treat epilepsy and/or FDS is low. This highlights the need for interventions to increase PA in these patient groups.
People experiencing homelessness, or “unhoused people”, are eight times more likely to have a diagnosis of epilepsy compared to the general population. However, little is known about how epilepsy is experienced and understood within the context of homelessness. This study used Interpretative Phenomenological Analysis to explore the lived experience of epilepsy among six unhoused men in Ireland. Four group experiential themes were developed: Diagnosis as an Explanation with No Way Out, Dual Loss of Autonomy, Public Seizures and Social Devaluation, and Living Within Constrained Survival Pathways. Findings illustrate a dynamically reinforcing relationship between epilepsy and homelessness. Seizures undermined bodily reliability, while environmental instability associated with homelessness intensified unpredictability in managing safety and medical needs. This dual vulnerability meant participants navigated simultaneous bodily and environmental threats. The absence of private space made seizures public incidents, creating a double bind in which individuals depended on visibility and bystanders for assistance, yet were exposed to stigma and misrecognition. Services were often experienced as fragmented and cyclical, disrupting recovery and requiring individuals to prioritise survival over health through harmful trade-offs. Repeated exposure to these conditions contributed to a gradual erosion of agency and ongoing reconstruction of identity. These findings suggest that the burden of epilepsy in homelessness is compounding, with each condition significantly exacerbating the impact of the other. Epilepsy care for unhoused people should therefore incorporate trauma-informed approaches that address psychosocial needs and peer support, reduce stigma, improve staff awareness, and support integrated inclusion health pathways.
OBJECTIVE:Novel proof-of-concept designs utilizing biomarkers associated with an established clinically meaningful outcome are needed for antiseizure medication (ASM) efficacy assessment in patients with epilepsy, including drug-resistant focal epilepsy. Changes in long episode (LE) frequency, recorded by the responsive neurostimulator (RNS® System), are associated with changes in clinical seizure (CS) frequency following ASM initiation, suggesting that LEs may serve as a valid biomarker. Here, we aimed to establish the LE reduction magnitude associated with a clinically meaningful CS reduction. METHODS:Post hoc retrospective analyses of CS and LE frequencies, responder rate, and receiver operating characteristics from a long-term RNS open-label treatment study in patients who met predefined criteria were performed to evaluate the association between changes in LE and CS frequency and the LE reduction cutpoint associated with a ≥ 50% CS reduction. RESULTS:Patients (N=45) initiated clobazam (n=15), levetiracetam (n=4), or lacosamide (n=26). Patients achieved a median 30% LE and 50% CS reduction. Patients with <50% and ≥50% CS reductions had a median 5.9% LE increase and 52.4% LE reduction, respectively. A positive association between LE and CS frequency reduction across the entire range of responses (0-100%) was observed. A ≥30% LE reduction was associated with a ≥50% CS reduction; AUC=0.765, N=45. SIGNIFICANCE:If LE reductions may serve as a potential biomarker, a threshold associated with meaningful improvement in CSs is paramount. Results from this hypothesis-generating analysis support the use of a ≥ 30% LE reduction as a biomarker associated with clinically meaningful improvement in focal epilepsy.
PURPOSE:Research on pharmacoresistant epilepsy including developmental and epileptic encephalopathies (DEE) predominantly focuses on seizure control and health-related quality of life (HRQoL), while explicit parental goals concerning treatment outcomes as well as perceived resources and support needs remain somewhat underrepresented. We aimed to systematically assess parental priorities, perceived resources, and support needs in families of children with therapy-resistant epilepsies. METHODS:We conducted an online survey (September-October 2025). Parents ranked 14 symptom domains according to personal relevance, rated opportunities to address these topics in different healthcare settings and evaluated support needs across medical and psychosocial domains. Descriptive and non-parametric statistical analyses were performed, including subgroup comparisons by age and Dravet/SCN1A status. RESULTS:A total of 224 questionnaires were analyzed (mean child age 12.0 ± 6.3 years; 34 different genetic etiologies, including 40 Dravet/SCN1A patients). Seizures were the top concern when it came to what most affects families' daily lives. However, cognitive development, sleep, and externalizing behavioral problems consistently followed, indicating a multidimensional goal structure beyond seizure control. Subgroup analyses revealed largely similar priorities. Parents reported sufficient time to address medical issues in specialized settings but expressed substantial unmet needs in psychological support for the child, themselves, and the family. Free-text responses highlighted deficits in access to therapies, educational inclusion, care coordination and psychosocial support. CONCLUSIONS:While seizures remain a central concern, families prioritize developmental, behavioral, sleep-related, and psychosocial domains nearly as strongly. Current care models and literature emphasize HRQoL measurement but rarely capture explicit parental goals. Systematic goal elicitation and genuine interdisciplinary, family-centered care are needed to alleviate the burden on families through appropriate treatment planning.
BACKGROUND:Post-stroke epilepsy (PSE) affects 2-14% of ischaemic stroke survivors and is associated with increased mortality and poorer functional recovery. Although stroke characteristics differ by age and sex, demographic differences within PSE cohorts remain understudied. AIM:To assess age- and sex-related differences in seizure presentation, stroke characteristics, and mortality within a well-characterised PSE cohort. METHODS:We included consecutive people with ischaemic stroke at the University Hospital Innsbruck (2014-2017 and 2020-2025) who developed PSE (median follow-up 40 months). Data on PSE onset, stroke severity, aetiology, SeLECT score, and mortality were extracted from electronic medical records and analysed using regression models. RESULTS:Among 84 individuals (38 women; median age 72.4 years), the latency to the first unprovoked seizure (median 266 days) and seizure type did not differ by age or sex. Women tended to present with more severe strokes, and cardioembolism was their most common aetiology (47%); however, sex differences in stroke severity and aetiology were not statistically significant. Overall mortality was 33% (22% in men vs 47% in women; p = 0.02). Increased age (HR 1.09, p < 0.001), greater discharge stroke severity (p = 0.005), and poorer pre-stroke function (p = 0.004) independently predicted mortality and accounted for the higher crude mortality in women. Status epilepticus and focal to bilateral tonic-clonic seizures as initial seizure types were associated with particularly high mortality (71% and 39%; adjusted HR 2.98, p = 0.02). CONCLUSION:Cardioembolism was the leading stroke aetiology in women with PSE. Mortality was driven by age, stroke severity, and initial seizure type rather than sex.
In this multicentre, retrospective, real-world study, we evaluated 254 people with epilepsy initiating adjunctive perampanel in routine clinical practice. Treatment retention was high at 6 and 12 months (90.9% and 81.9%). In observed cases, ≥50% seizure reduction was achieved by 80.5% and 78.8%, while seizure freedom was reached by 28.1% and 25.5%, respectively. Conservative baseline-denominator estimates yielded responder rates of 73.2% and 64.6%, with seizure freedom in 25.6% and 20.9%; sustained seizure freedom occurred in 14.6% (37/254). Adverse events were reported in 10.4% at 6 months and 4.3% at 12 months, mostly irritability-related, leading to discontinuation in 14 patients. Median total drug load increased from 1.20 at baseline to 2.00 at 6 months and 1.92 at 12 months (p < 0.001), whereas the load of concomitant antiseizure medications remained largely stable, with modest reductions observed particularly among sodium channel blockers and SV2A ligands. Pittsburgh Sleep Quality Index and Epworth Sleepiness Scale scores improved significantly at both follow-ups, whereas Quality of Life in Epilepsy Inventory-31 total score remained stable, despite some domain-level improvements. Adjusted models indicated higher odds of response in temporal lobe epilepsy (OR 3.27; p = 0.006), and lower odds in patients with neuropsychiatric comorbidities, longer epilepsy duration, or female sex. Neuropsychiatric comorbidity was also strongly associated with adverse events (OR 6.01, p < 0.001). These results support sustained real-world effectiveness and manageable tolerability of perampanel across heterogeneous centres and patient subgroups, highlighting the importance of monitoring comorbidities and concomitant therapy adjustments, and suggesting potential benefits beyond seizure control.
BACKGROUND:Neurologic and psychiatric comorbidities are a major contributor to the disease burden in patients with epilepsy. The aim of this family history study was to describe patient-reported neurologic and psychiatric symptoms and diseases in families of persons with epilepsy (PWEs). SUBJECTS:We have previously identified an all-cause epilepsy cohort of 508 PWE, who had participated in prior epilepsy studies at the Oulu University Hospital. A structured questionnaire on neurologic and psychiatric symptoms and diseases in their family was sent to each cohort member, and 172 of them agreed to participate. Five age, sex, and home municipality matched peers per each PWE were identified from the Finnish Population Register Centre. These 884 individuals received similar written questionnaires, and 168 participated. RESULTS:PWE were more likely to report a relative with migraine (RR 1.32, CI 1.07-1.63), or psychiatric diseases (RR 1.98, CI 1.25-3.13) than the controls. Women with epilepsy were also more likely to report relatives with epilepsy or with symptoms referring to epilepsy (RR 1.66, CI 1.14-2.42), or movement disorder symptoms (RR 2.30, CI 1.35-3.91) than controls. CONCLUSIONS:Patient-reported rate of neurologic and psychiatric symptoms and diseases was higher in the families of PWE than those of population-based matched control subjects. Knowledge of the possible increased disease burden in the families of PWE promotes recognition of these conditions in everyday clinical settings.
OBJECTIVE:Functional/Dissociative Seizures (FDS), formerly known as psychogenic nonepileptic seizures, are common in tertiary epilepsy centers and remain challenging to distinguish from epileptic seizures. Beyond semiological features, additional behavioral markers such as the presence of transitional objects have been proposed as potential diagnostic clues. This study aimed to assess whether transitional objects and selected clinical semiological features could help differentiate FDS from epileptic seizures during video-electroencephalographic (vEEG) monitoring. METHODS:We conducted a retrospective cross-sectional study at the Epilepsy Monitoring Unit of the Centre Hospitalier de l'Université de Montréal (CHUM). Adult patients who underwent vEEG monitoring between April 2018 and April 2025 were included. The FDS group comprised patients with at least one recorded FDS, while age- and sex-matched controls consisted of patients with confirmed epileptic seizures and no recorded FDS. Video recordings were systematically reviewed by an epileptologist to assess the presence of transitional objects (e.g., stuffed animals, blankets, pillows, slippers) and predefined semiological features, including pelvic thrusting, ictal eye closure, back arching (opisthotonos), and ictal crying. RESULTS:A total of 101 patients with FDS (383 events) and 101 patients with epileptic seizures (371 events) were analyzed. Transitional objects were observed in 18 patients with FDS and 16 controls (unadjusted p = 0.177; Holm-Bonferroni-adjusted p = 0.849), with no significant differences between groups. In contrast, pelvic thrusting, ictal eye closure, back arching, and ictal crying were significantly more frequent in the FDS group. Psychiatric comorbidities were also more prevalent among patients with FDS (41 vs. 18, unadjusted p < 0.001; Holm-Bonferroni-adjusted p = 0.003), particularly depression and bipolar disorder. SIGNIFICANCE:Transitional objects, including stuffed animals, do not appear to be discriminative markers between FDS and epileptic seizures. However, specific semiological features remain useful for positive diagnosis of FDS, in line with current International League Against Epilepsy recommendations. These findings support a clinically driven diagnostic approach based on seizure semiology rather than transitional objects alone.
BACKGROUND:Reliable detection of hippocampal engagement is critical in presurgical memory fMRI, yet the extent to which different paradigms differentially recruit anterior and posterior hippocampal regions at the individual level remains unclear. This study systematically compares hippocampal engagement across three commonly used memory fMRI tasks-autobiographical memory (AUT), picture encoding (PIC) and hometown walking (HTW)- at the individual level, with a particular emphasis on anterior versus posterior hippocampal regions. METHODS:A total of 113 presurgical patients completed at least one memory fMRI task (AUT: n = 41; PIC: n = 53; HTW: n = 60). Hippocampal regions of interest were anatomically defined and subdivided into anterior/posterior and ipsilesional/contralesional segments. Individual-level suprathreshold activation detectability of hippocampal ROIs was assessed using standardized statistical criteria (p < 0.01, uncorrected). RESULTS:All tasks showed high global hippocampal detection rates. However, regional differences were observed in the anterior hippocampus, where AUT demonstrated higher detectability, particularly contralesionally (88.9 %), compared with PIC (60 %) and HTW (64.7 %) (Cramér's V = 0.259). In contrast, posterior hippocampal detection was high and comparable across tasks, with PIC showing the highest rates (80.6-97.8 %). Whole-brain analyses revealed stronger engagement of default mode network regions for AUT. CONCLUSIONS:Memory fMRI paradigms show distinct regional hippocampal engagement profiles and are not interchangeable for presurgical mapping at the individual level. These findings may inform task selection in presurgical memory fMRI depending on the anatomical region of interest and clinical context.
OBJECTIVES:To evaluate treatment engagement and 12-month outcomes following structured diagnostic communication and individualized treatment planning in inpatients with the most common functional neurological disorder (FND) presentations encountered in epilepsy services and to explore the relationship between treatment engagement and adherence. METHODS:In this prospective cohort study, adult inpatients with a diagnosis of functional/dissociative seizures (FDS) or functional movement disorder (FMD) received a multi-component psychotherapeutic consultation focused on psychoeducation and shared decision-making. Individualized treatment plans were developed collaboratively. Follow-up assessments were conducted over 12 months. Primary outcome was health-related quality of life (SF-36). Secondary outcomes included disorder-specific symptom burden and functional impairment (WSAS). Individual change was assessed using the Reliable Change Index. RESULTS:Of 55 FND inpatients, 58% (32) were admitted via the emergency department with acute presentations and 42% (23) electively for diagnostic evaluation; 37 were enrolled, while 18/55 (33%) could not be included. Twelve-month follow-up data were available for 25/37 patients (68%). Among completers, treatment engagement rates were high (>80%). Despite high rates of self-reported treatment adherence, no significant group-level improvements were observed. Only 8/25 patients (32%) showed reliable improvement in at least one major outcome domain without deterioration in another. SIGNIFICANCE:Structured diagnostic communication combined with individualized treatment planning was associated with high treatment engagement rates. However, long-term outcomes remain unsatisfactory, suggesting treatment effectiveness as key limiting factor. Limitations include the uncontrolled design and incomplete follow-up. Our findings suggest that therapist specialization and closer integration between neurological and psychotherapeutic care may be important components of FND care.
OBJECTIVE:Sinus tachycardia during seizures is commonly reported in inpatient video-EEG monitoring, often with high prevalence estimates. These data are derived from selected populations under controlled conditions. We examined clinically documented tachycardia prevalence and determinants in a large retrospective ambulatory EEG-ECG cohort. METHODS:Methods: Clinically documented tachycardia during electrographically confirmed seizures was analyzed from finalized ambulatory EEG-ECG reports, with explicitly documented non-sinus tachyarrhythmias identified separately. The analysis was limited to tachycardia documented during seizures and did not include systematic peri-ictal arrhythmia analysis. Sinus tachycardia was defined as heart rate >100 bpm in adults, and age-adjusted thresholds for those <18. Associations with seizure type, duration, and patient-level factors were examined. RESULTS:Reports were analyzed from 1368 patients with 6177 EEG-confirmed seizures. Tachycardia was clinically reported in 2065/6177 (33.4%) of seizures and 769/1368 (56.2%) of patients. Most tachycardia events were sinus/presumed sinus, however 7/2065 seizures with tachycardia were explicitly documented non-sinus tachyarrhythmias. It was more frequent in focal than generalized seizures (39.1% vs 24.4%) and was associated with longer seizure duration (median 61 s vs 18 s). Younger age and female sex were associated with tachycardia, though the age effect was modest. Medication effects were not robust after correction. Marked within-patient variability was observed: 30.5% had tachycardia in all seizures, 25.7% in some, and 43.8% in none. CONCLUSIONS:In ambulatory monitoring, clinically documented sinus tachycardia occurs in one third of seizures, substantially lower than some inpatient estimates. Clinically documented ictal sinus tachycardia is associated with seizure duration, is more common in focal seizures, and demonstrates marked variability within individuals.
OBJECTIVE:Depression affects up to 55% of people with epilepsy (PWE) yet remains systematically underdiagnosed. This study aimed to evaluate the psychometric properties of the Czech versions of the Beck Depression Inventory-II (BDI-II) and Beck Depression Inventory-Fast Screen (BDI-FS) for identifying major depressive episode (MDE) in PWE. METHODS:A cross-sectional study was conducted with n = 278 adult PWE, assessed at the tertiary epilepsy center. MDE diagnosis was established using the Mini International Neuropsychiatric Interview (M.I.N.I. 6.0.0) as the diagnostic gold standard. Psychometric evaluation included internal consistency, test-retest reliability, exploratory factor analysis, diagnostic accuracy via ROC analysis and concurrent validity against the The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), The Functional Activities Questionnaire (FAQ), and QOLIE-89. RESULTS:25% of the sample (n = 70) met criteria for MDE. Both instruments demonstrated excellent reliability (BDI-II: α = 0.93; BDI-FS: α = 0.81) and strong one-month test-retest stability (ICC = 0.84 and 0.79, respectively). Factor analysis replicated a two-factor structure comprising Somatic-Affective and Cognitive dimensions, accounting for 44% of total variance. Both scales correlated strongly with the NDDI-E (ρ ≈ 0.74) and showed expected negative strong correlations with functional capacity and quality of life. ROC analysis identified optimal cutoffs of BDI-II > 14 (AUC = 0.984, sensitivity 95.7%, specificity 95.1%) and BDI-FS > 3 (AUC = 0.925, sensitivity 84.3%, specificity 85.6%). CONCLUSION:The Czech BDI-II version and its brief alternative BDI-FS are reliable and valid instruments for screening MDE in epilepsy. Implementation of these tools in epilepsy clinics may substantially improve depression detection and patient outcomes.
BACKGROUND:Despite clinical guidelines emphasising coordinated, person-centred care for pregnant women with epilepsy, preventable maternal deaths and suboptimal care continue. PURPOSE:To explore the perspectives of women with epilepsy on pregnancy-related care and their views on how to improve it. METHODS:We conducted semi-structured interviews with eleven women aged 27-39 years who were currently pregnant or had given birth within the last two years. We recruited participants from across the UK. Data were analysed using reflexive thematic analysis. RESULTS:Three main themes were identified. Enabling and supportive care was characterised by supportive healthcare professionals as anchors, proactive preconception counselling, collaboration between providers, a single coordinator of care, and access to specialist expertise. Fragmented and inadequate care included absence of informed decision-making, poor coordination, women being left to correct errors in their own care, encounters lacking empathy, limited epilepsy knowledge among non-specialist staff, and over-reliance on remote contact. Priorities for service improvement included early and direct conversations about risks (including SUDEP), respectful and balanced communication, partnership-based adult-to-adult dialogue, in-person consultations, and coordinated, holistic care that includes mental health support. CONCLUSION:Despite longstanding guidelines, women with epilepsy continue to experience significant gaps between recommended standards of pregnancy care and service realities. Women describe deficits in early, proactive discussions about medication and risks, informed decision-making, and joined-up care, leaving some to perform unsupported "safety work", correcting errors and mediating between neurology, obstetric and midwifery teams. Improving care requires a commitment to holistic, person-centred support that embeds clear, respectful, two-way communication with women and across services as a core safety practice.
BACKGROUND:Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) are rare developmental and epileptic encephalopathies (DEEs) in which disability and family burden are driven by seizures and non-seizure issues (NSIs), including cognition, behavior, sleep, communication, motor function, and adaptive abilities. OBJECTIVE:To develop practical consensus statements on NSIs in DS and LGS, integrating NSI evaluation within a DEE framework and appraising the perceived role of fenfluramine (FFA). METHODS:An Italian panel of 12 epilepsy specialists spanning pediatric and adult practice developed statements using an Estimate-Talk-Estimate process. Consensus was predefined as ≥ 70% agreement (agree/strongly agree). RESULTS:Eleven final statements were clustered into three macro-areas, with the first two explored in greater depth: (1) the cross-cutting, lifespan impact of NSIs in DS and LGS; (2) the potential for FFA to provide clinically meaningful benefits across selected NSI domains in DS and, more variably, in LGS, with effects not always fully captured by seizure metrics; and (3) the role of other interventions on NSIs and the need for structured assessment tools. CONCLUSIONS:Incorporating NSI priorities into shared goal-setting and longitudinal monitoring may improve the clinical relevance of care in DS and LGS. The panel supported an NSI-informed, net-benefit approach to treatment optimization and identified FFA as a relevant option, while recognizing that evidence on NSI outcomes remains heterogeneous and should be strengthened through syndrome-specific, longitudinal assessment.
Background Juvenile myoclonic epilepsy (JME) is among the most prevalent forms of inherited generalized epilepsy in adolescents. It is characterized by photosensitivity and seizures triggered by photic stimulation. Previous magnetoencephalography (MEG) studies have demonstrated abnormal neural dynamics in JME; however, the ability of advanced electroencephalography (EEG) analysis to characterize these abnormalities remains unclear. This exploratory study investigated EEG-derived neurophysiological alterations in patients with JME and their potential relationship to photosensitivity. Methods We analyzed EEG features such as temporal correlations, signal complexity, and spectral power distribution in 22 patients with JME and 22 healthy controls. Results The results revealed significant occipital differences between the patient and control groups. Specifically, the patient group had stronger long-range temporal correlations, higher signal complexity, higher relative delta power, and lower relative alpha power than did the control group. These findings correspond to the characteristic photosensitivity observed in JME and provide neurophysiological evidence linking regional brain changes to clinical manifestations. Conclusions The spatial and spectral patterns identified through EEG are consistent with previously reported MEG findings. This indicates that advanced EEG is similar to MEG in its ability to characterize neurophysiological activity. These findings highlight EEG as an efficient and accessible tool for the clinical assessment of JME across health-care settings.
Every revision of the seizure classification—most recently the 2025 International League Against Epilepsy (ILAE) update—refines terminology, yet it is worth asking whether patients are treated better because their seizures were renamed. The focal versus generalized dichotomy has organized epilepsy classification since the 1960 s and is grounded in a pharmacologic rationale, but head-to-head data from the SANAD trials show that efficacy differences between individual antiseizure medications frequently equal or exceed differences across the focal/generalized boundary. Meanwhile, the distinction that is genuinely transformative—whether an epilepsy is surgically remediable—produces seizure-freedom differences of an entirely different order of magnitude, and yet epilepsy surgery remains among the most underutilized evidence-based treatments in medicine. We argue that classification should elevate therapeutic trajectory over electroclinical phenomenology, and we propose an Interventional Axis built around three pathways: focal resection, neuromodulation, and palliative surgery, operating in parallel with pharmacotherapy rather than after its serial failure. Refining terminology improves communication, but the ultimate metric of a classification is outcome, not taxonomic elegance.
Paediatric drug-resistant epilepsy (DRE) is associated with IQ deficits only partially explained by clinical seizure variables (for example, age of onset, seizure burden, seizure location). Given that intelligence depends on efficient large-scale brain networks, structural connectomics provides a complementary mechanistic framework for explaining residual IQ variance. We tested whether brain-network architecture explains additional IQ variance using global and network-averaged graph-theoretic metrics derived from streamline-count weighted diffusion MRI connectomes. Seventy-one children with DRE (50 focal epilepsy; 21 multifocal epilepsy) and 15 control participants underwent diffusion and T1-weighted MRI. For each participant, a 253 × 253 structural connectome was constructed, edge weights were defined as the number of streamlines, and graph metrics were computed using the Brain Connectivity Toolbox. Nodal metrics were averaged within Yeo's seven functional networks plus a Subcortical network. Associations with IQ were examined using correlations and general linear models (single-network and eight-predictor models). Finally, mediation analyses tested whether network metrics explained IQ differences between controls and children with DRE. Global metrics were not associated with IQ (all p > 0.05). Regionally, higher Salience-network betweenness centrality showed a nominal negative association with IQ in the multifocal subgroup (p = 0.040*, adjusted R2 = 0.142). In the eight-network GLM, higher nodal efficiency within the Default Mode Network (DMN) was positively associated with IQ (B = 122.406, p = .013), whereas higher nodal efficiency within the Subcortical Network was negatively associated with IQ (B = -51.942, p = .012). These regional associations did not survive Bonferroni correction. Exploratory mediation analyses suggested that opposing DMN and Subcortical Network effects partially accounted for the observed group difference in IQ. These findings are hypothesis-generating, as the regional associations with IQ were nominal and did not survive family-wise correction. Nevertheless, the mediation effects survived correction, highlighting opposing regional, rather than global, network alterations as candidate correlates of IQ variability in paediatric DRE.
Epilepsy is the 4th most prevalent neurological condition with 50 million cases worldwide. Patients with epilepsy bare a disproportionate burden of cognitive decline and psychiatric disorders which remain poorly understood and go unaddressed by current anti-epileptic treatments. Furthermore, pre-clinical work on behavioral comorbidities can be hampered by current testing frameworks which rely on well-defined, discreet tests with limited repeatability. Recent work has demonstrated a role for machine learning modalities such as Motion Sequencing (MoSeq) in assessing behavioral differences between naïve and epileptic. In this study we combined MoSeq with a novel analysis pipeline to uncover repetitive behaviors in chronically epileptic mice. These repetitive behaviors emerge alongside epilepsy specific racing behaviors which persist in epileptic mice as disease progresses. We show that epileptic mice have more fragile and dispersed behavioral networks. Finally, we test this pipeline using the FDA approved anti-seizure medication carbamazepine, showing a rescue of racing syllable and a partial rescue of behavioral network dispersion. Together, these results lay a groundwork for extracting clinically relevant phenotypes from MoSeq data throughout disease progression.
