Introduction Depression is the most frequent co-morbidity in persons living with epilepsy (PwE). In Rwanda, the prevalence of epilepsy ranges between 2.9 and 7.6% and the prevalence of any depression in PwE is more than 22%. This prospective interventional patient-centered study determined incidence and prevalence of depression in PwE and clinical outcomes of moderate to severe depression (MSD) in three rural sectors in Northern Rwanda. Methods PwE were enrolled between June 2018 and December 2018. At each three-monthly study visit, PwE were screened for depression with Patient Health Questionnaire-9 (PHQ-9). If positive, the Hamilton Depression Rating Scale (HDRS) was administered to quantify severity of depressive symptoms and confirm diagnosis of depression. PwE with MSD (PwED) were provided anti-depressants and followed for one year. Patient-centered interventions addressing social determinants of mental health were adopted. Results Of 304 PwE enrolled, 25 (8.2%) presented MSD during the study. At baseline. Prevalence of any depression and MSD was 27% and 4.3%. respectively. Incidence of any depression or MSD was 245 and 48/1.000 patient-years, respectively. Seizure frequency improvement was observed in both groups. HDRS scores for PwED were significantly reduced from 22.8 at baseline to 7.9 at 12-months follow-up. Access to dedicated epilepsy nursing staff and medication, psycho-education and income-generating initiatives proved beneficial. Conclusions Kinyarwanda PHQ-9 and HDRS versions were successfully deployed for screening and diagnosing depression symptoms in PwE in rural settings. Treatment of epilepsy and co-morbid depression improved clinical outcomes. Implementation of depression screening in routine health practice in Rwanda is warranted.
Objective:Deep brain stimulation of the anterior nucleus of the thalamus (ANT-DBS) is an established palliative therapy for drug-resistant focal epilepsy; however, its efficacy for epileptic spasms (ES) and the clinical utility of unilateral stimulation remain unclear. To address these issues, we report a case of drug-resistant focal epilepsy with ES treated with unilateral ANT-DBS. Case:An 18-year-old right-handed male with focal cortical dysplasia type I had long-standing drug-resistant epilepsy. Despite multiple resective and palliative surgeries-including right frontal disconnection, corpus callosotomy, right anterior temporal lobectomy, and vagus nerve stimulation-daily ES, weekly focal impaired consciousness seizures (FIC), and monthly focal-to-bilateral tonic-clonic seizures (FBTC) persisted. Presurgical evaluation suggested an epileptic focus in the left temporal lobe for FIC/FBTC. ANT-DBS was planned for seizure alleviation. Lead implantation on the right side was considered unfavorable because of marked postsurgical atrophy. Therefore, unilateral ANT-DBS lead implantation on the left side was performed. Results:After implantation, ES frequency transiently decreased (median 0.46 seizures/day) but later increased during follow-up. Stimulation was initiated on postoperative day 22. After the stimulation amplitude reached ≥2.0 mA (postoperative day 92), the median spasm frequency decreased again to 0.31/day, lower than the preoperative baseline of 0.75/day (58.1% reduction; p = 0.012). FIC frequency also decreased from 0.21/day to 0.09/day (60.0% reduction; p = 0.121). Significance:Unilateral ANT-DBS was associated with a clinically meaningful reduction in ES in this highly refractory case, suggesting a potential therapeutic role even when bilateral implantation is not feasible.
Objective Dravet syndrome (DS) is increasingly recognized as a multisystem disorder extending beyond epilepsy. We describe two children with genetically confirmed DS who developed recurrent, severe episodes of acute respiratory distress syndrome (ARDS), suggesting a previously underrecognized extraneurological manifestation. Methods Clinical, genetic, and pediatric intensive care data were retrospectively reviewed. Results Both patients experienced severe ARDS triggered by febrile illnesses or status epilepticus. One child developed recurrent ARDS associated with viral respiratory infections, requiring multiple pediatric intensive care unit admissions with invasive or noninvasive ventilatory support. The second patient developed life-threatening ARDS following status epilepticus, requiring prolonged mechanical ventilation and repeated veno-venous extracorporeal membrane oxygenation for refractory hypoxemia. In both cases, ARDS occurred in the absence of ongoing seizures during critical illness. Significance These cases expand the recognized extraneurological phenotype associated with SCN1A-related Dravet syndrome and suggest a potential vulnerability to severe inflammatory respiratory failure. Increased awareness of this association may have important implications for risk stratification, monitoring, and multidisciplinary management of children with DS during febrile illnesses and status epilepticus.
Background:Ethosuximide (ESM) is a first-line anti-seizure medication (ASM) for absence seizures and is generally well-tolerated. However, rare immune-mediated adverse reactions like drug-induced lupus erythematosus (DILE) have been reported. This study aimed to systematically review published reports of ESM-induced lupus erythematosus (LE). Methods:A comprehensive search of databases and sources was conducted up to June 2025 to identify eligible case reports and case series. Inclusion was based on predefined diagnostic criteria for DILE. The methodological quality of included studies was appraised using the Joanna Briggs Institute (JBI) checklists. Extracted data included publication characteristics, patient demographics, clinical features, laboratory findings, management, and outcomes. Results:Twenty-eight publications encompassing 47 patients met inclusion criteria. The median age was 9 years, and 70.4% were female. Most patients presented with systemic manifestations such as arthralgia, fever, rash, and arthritis, with occasional renal and central nervous system involvements. Antinuclear antibodies (ANA) were positive in 95% of cases, typically at high titers with a homogeneous pattern. Anti-histone antibodies, characteristic of DILE, were detected in over 85% of tested patients, while anti-dsDNA antibodies were also reported in a notable subset. Discontinuation of ESM led to marked clinical improvement in 80% of patients, with or without adjunctive corticosteroids. Conclusion:ESM-induced LE, though exceedingly rare, should be suspected in patients on ESM presenting with systemic autoimmune features. Its clinical and serological profiles overlap those of idiopathic systemic lupus erythematosus and classic DILE. Early recognition and prompt discontinuation of ESM typically result in rapid remission and may prevent unnecessary prolonged immunosuppression.
Background:Effective management of any pediatric seizure event - not only febrile seizures - is a core requirement of pediatric primary care. In Japan, where the background prevalence of febrile seizures (FSs) is high (8-10% of children), pediatric primary care clinics may encounter status epilepticus (SE) requiring immediate antiseizure medication. Buccal midazolam was approved in Japan in December 2020. The pediatric rescue medication landscape in Japan differs substantially from many other countries: rectal diazepam gel is not approved, and intranasal diazepam was not yet on the market during the study period. To our knowledge, primary-care-level data on the incidence and management of in-clinic pediatric seizures in Japan remain limited. Methods:This multicenter retrospective observational study included pediatric patients (0-18 years) who experienced seizures during clinic visits at 32 primary care clinics in Japan between November 2023 and October 2024. Clinical data were extracted from electronic medical records. SE was defined as a generalized tonic-clonic seizure lasting ≥5 min. Statistical analyses included chi-square tests to assess the relationships between seizure onset time of day, monthly occurrence, and emergency transport. Among transported patients, the appropriateness of buccal midazolam administration was evaluated against pre-specified criteria based on the Japanese package insert. Results:Of 967,417 eligible pediatric outpatient visits (after exclusion of 191,009 visits by patients aged >18 years), 132 (0.014%) involved an in-clinic seizure. Of these, 52 (39.4%) required emergency transport. No significant differences were observed in seizure occurrence across time of day (χ2(2, n = 132) = 0.32, p = 0.85) or months (χ2(11, n = 132) = 16.84, p = 0.11). Among the transported patients, 24 (46.2%) had SE (of whom 23 had febrile status epilepticus and 1 had an afebrile seizure following head trauma); seven (13.5%) had seizure clusters; the remainder did not meet criteria for SE, clusters, or focal seizures. Buccal midazolam was administered to 22 patients (42.3%) but was deemed appropriate for SE in only 14 (63.6%) of those administrations. Diazepam suppositories - a prophylactic, not a rescue, formulation in Japan - were administered in 19 (36.5%) cases, in some instances delaying buccal midazolam administration. All administered doses conformed to the age-stratified dosing schedule of the Japanese package inserts. Conclusions:Seizures in pediatric primary care occur sporadically and require continuous preparedness. Suboptimal management of SE, particularly delayed benzodiazepine administration and underutilization of buccal midazolam, was identified. Enhanced education focusing on SE recognition and appropriate medication use may improve the quality of seizure care in community pediatric settings.
Objective:To examine the association between depression and elevated epilepsy prevalence, and to assess the mediating role of sleep disturbance in this association as well as its heterogeneity across different subpopulations. Methods:This study included 8223 adults aged ≥18 years from the National Health and Nutrition Examination Survey (NHANES) 2013-2020. Weighted multivariable logistic regression was used to evaluate the association between depression and epilepsy. Mediation analysis was conducted using the PROCESS macro (Model 4), with sleep disturbance as the mediator, and significance was tested via bootstrapping. Interaction terms and stratified analyses were further employed to examine effect modifications by educational level and cardiovascular disease status. All analyses accounted for the complex survey design of NHANES. Results:Depression was significantly associated with an elevated prevalence of epilepsy. Mediation analysis showed that sleep disturbance partially mediated this association, contributing to 47.34% of the total effect. Stratified analyses indicated that the association varied by educational level and presence of cardiovascular disease. Conclusion:Based on a nationally representative sample, this study demonstrates that depression is associated with an elevated prevalence of epilepsy both directly and indirectly through sleep disturbance, underscoring the potential importance of mental health and sleep management in epilepsy prevention.
Background:In Uganda, the quality of life (QoL) of patients with epilepsy (PWE) remains poor due to clinical, psychological, and social challenges. While several quantitative studies have documented correlates of poor QoL in Ugandan PWE, the specific mechanisms, contextual meanings, and patient-defined priorities through which epilepsy affects daily life remain poorly understood. This study aimed to explore the lived experiences that influence QoL among PWE at Mulago National Referral Hospital (MNRH) in Uganda. Methods:We conducted a qualitative study among 12 purposefully selected adult PWE at MNRH. We collected data using in-depth interview guides and analysed the data using inductive thematic analysis with ATLAS.ti software. We used purposive sampling guided by gender and duration of epilepsy care to ensure depth and breadth of perspectives. Data collection continued until thematic saturation was achieved. Results:Three major themes captured the lived experiences that influence QoL. 1)Psychosocial experiences encompassed social support from friends and religious communities, family relationships that functioned as sources of both support and strain, stigma and discrimination, and psychological, cognitive, and coping processes. 2) Economic and daily living challenges encompassed financial barriers to treatment, employment disruption alongside economic adaptation, and seizure-related physical injury. 3) Healthcare and treatment experiences encompassed access to free antiepileptic drugs (AEDs) and diagnostic services, provider-led counselling and health education, and medication-related effects. Conclusion:Healthcare services should prioritise a shift to holistic, patient-centred care that integrates psychosocial well-being, economic circumstances, and lived treatment experiences into routine epilepsy management.
Objective:Everolimus is an established therapy for tumor manifestations and refractory focal seizures in tuberous sclerosis complex (TSC) in patients aged ≥2 years. Evidence regarding its use during the neonatal period, particularly for seizure control, remains extremely limited. Methods:We describe the clinical course, neuroimaging findings, treatment response, and developmental outcome of a neonate with genetically confirmed TSC who received early everolimus therapy for refractory seizures. Results:A term female neonate developed multifocal drug-resistant seizures beginning on day 3 of life. Brain magnetic resonance imaging demonstrated multiple cortical and subcortical tubers, and electroencephalography revealed multifocal epileptiform discharges. Despite treatment with phenobarbital, midazolam, and vigabatrin, seizures remained uncontrolled. Everolimus was initiated on day 30 of life. Seizure activity resolved completely within one week and remained controlled for over one year. The treatment was well tolerated, with no serious adverse events. Early developmental assessment at 12 months showed cognitive, language, and motor scores within the lower range of normal. Conclusion:This case suggests that early initiation of everolimus may represent a feasible adjunctive treatment option for selected neonates with TSC-associated refractory seizures.
Purpose:To characterize the clinical and electrographic features of temporal lobe epilepsy (TLE) presenting with chorea-athetosis-like hyperkinetic seizures and to delineate the underlying seizure network using stereo-electroencephalography (SEEG). Methods:We retrospectively reviewed 102 consecutive patients with drug-resistant TLE who underwent presurgical SEEG evaluation between January 2021 and October 2024 at a single tertiary epilepsy center. Three patients with brief, stereotyped chorea-athetosis-like movements during seizures were identified. Clinical, neuroimaging, SEEG, surgical, and follow-up data were analyzed, focusing on the seizure-onset zone, early propagation pathways, and the temporal relationship between ictal activity in cortical and deep structures and the emergence of hyperkinetic movements. Results:All three patients had focal seizures with auras and/or impaired awareness accompanied by transient chorea-athetosis-like movements. Structural MRI demonstrated unilateral temporal abnormalities in each patient. [^18F]FDG-PET showed predominantly ipsilateral temporal hypometabolism concordant with the epileptogenic zone and, in one patient, additional contralateral temporal hypometabolism. SEEG demonstrated seizure onset in the ipsilateral temporal pole or mesial temporal structures, with rapid propagation to the insula and posterior orbitofrontal cortex. Hyperkinetic movements invariably followed cortical ictal onset and coincided with widespread high-frequency activity in temporal and insular cortices. In one patient, the caudate head and thalamus were secondarily recruited without evidence of primary deep seizure onset. All patients underwent tailored temporal (± partial insular) resections and achieved Engel class I outcomes with complete resolution of chorea-athetosis-like seizures at 1-2 years. Conclusions:Chorea-athetosis-like hyperkinetic seizures in TLE appear to be cortically driven, with seizures arising from temporal cortex and propagating through a temporo-insular-orbitofrontal network before recruiting basal ganglia-thalamic structures. These findings highlight the importance of adequate SEEG coverage of temporal and insular regions to avoid misdiagnosis and to optimize presurgical evaluation and surgical planning.
Genetic-based epilepsies often present as distributed neural network disorders, challenging traditional focal versus generalized classifications. We report a 20-year-old male with drug-resistant epilepsy associated with a previously unreported SCN3A missense variant (c.5970C > G; p.Ser1990Arg). Despite failure of multiple anti-seizure medications and a non-localizing electroclinical profile, the patient achieved complete seizure freedom following Vagus Nerve Stimulation (VNS) therapy. Segregation analysis revealed the variant in asymptomatic relatives, including a parent with subclinical interictal discharges, confirming incomplete penetrance. This case underscores the role of VNS as a transformative therapeutic strategy for genetic network epilepsies where resective surgery is not feasible.
Epilepsy is a chronic neurological condition that affects millions of young people globally, often leading to physical, cognitive, psychological, and social challenges. In resource-constraint settings, access to healthcare and medications, stigma, and psychosocial burdens can further exacerbate the impact of the condition. This study explored the lived experiences of young people with epilepsy (YPWE) who attend the Cape Coast Teaching Hospital, Ghana, focusing on emotional reactions to diagnosis, access to healthcare, coping strategies, support systems, and future aspirations. A qualitative study approach was employed. Twenty young people aged 12-25 years participated in in-depth, semi-structured interviews. Thematic data analysis was conducted using Braun and Clarke's six-step method to identify patterns and themes from the participants' narratives. Six themes emerged: (1) diagnosis and emotional reactions, where participants expressed shock, fear, sadness, and initial anxiety following diagnosis; (2) access to medications and healthcare services, highlighting challenges such as medication availability, affordability, long queues, and financial constraints; (3) psychosocial impact, encompassing disruption to education, social activities, work, and occasional feelings of low self-esteem; (4) coping strategies, including lifestyle modifications, faith-based practices, and engaging in recreational activities; (5) support systems like reliance on friends and family during aura, and (6) future aspirations illustrating the participants' hopes for education and career advancement. Impliedly, YPWE in resource-constrained settings face multifaceted challenges. Adaptive coping strategies, supportive relationships and faith-based resilience ameliorate these challenges. Interventions should focus on improving access to medications and healthcare services, reducing stigma, strengthening psychosocial support, and empowering young people to achieve their aspirations.
Background:Globally, caregiver burden in childhood epilepsy is recognized as a major public health concern. However, this phenomenon remains under-studied in Uganda. Objective:To assess the prevalence of caregiver burden and identify caregiver- and child-related factors associated with it among primary caregivers of children with epilepsy in Rubanda District, Southwestern Uganda. Methods:A cross-sectional study was conducted among 288 primary caregivers of children with epilepsy attending Health Centre IV facilities in Rubanda District. Caregiver burden was assessed using the 22-item Zarit Burden Interview (ZBI-22). Descriptive statistics summarized caregiver burden levels, while bivariable and multivariable linear regression analyses identified factors associated with caregiver burden. Results:Overall, 172 caregivers (59.7%) experienced caregiver burden, including 145 (50.4%) with mild-to-moderate burden. Higher caregiver burden was significantly associated with older caregiver age (β = 0.18, 95% CI 0.06-0.31; p = 0.003), female sex (β = 4.98, 95% CI 1.74-8.23; p = 0.003), higher educational attainment (p < 0.05), recent seizure activity (β = 7.70, 95% CI 4.89-10.52; p < 0.001), longer duration of epilepsy (β = 0.06, 95% CI 0.03-0.09; p < 0.001), and dependence on caregivers for medication administration (β = 4.04, 95% CI 0.98-7.11; p = 0.010). Conclusion:Caregiver burden is highly prevalent among caregivers of children with epilepsy in rural Southwestern Uganda and is influenced by both caregiver characteristics and child-related clinical factors. Integrating caregiver-focused psychosocial support into epilepsy care services may help reduce caregiver burden and improve outcomes for children and their families in resource-limited settings.
Developmental and epileptic encephalopathies such as Dravet syndrome and Lennox-Gastaut syndrome remain highly drug resistant and are associated with substantial neurodevelopmental, behavioral, and caregiver burdens. Fenfluramine, repurposed at low antiseizure doses, is approved as adjunctive therapy for both syndromes and has a distinct multimodal mechanism that combines serotonergic modulation with positive allosteric activity at the sigma-1 receptor. This narrative review summarizes key translational insights and the pivotal clinical trial evidence in Dravet syndrome and Lennox-Gastaut syndrome, including long-term open-label extension and emerging real-world data. Across randomized studies, fenfluramine reduces convulsive seizures in Dravet syndrome and drop seizures in Lennox-Gastaut syndrome, with clinically meaningful responder rates and durability over time. Particular attention is given to neurocognitive and behavioral outcomes, as caregiver-reported improvements in executive function have been observed in Dravet cohorts and may not be fully explained by seizure reduction alone. Given historical associations between high-dose fenfluramine and cardiopulmonary adverse effects, we also review cardiovascular safety findings at antiseizure doses and the rationale for baseline and periodic echocardiographic monitoring. Finally, practical dosing, drug-drug interaction considerations, and an integration algorithm are provided to support routine clinical implementation across pediatric and adult care pathways.
Objective:Routine electrical cortical stimulation (ECS) with a duration of 4 to 6 s evoked various symptoms despite the risks of seizure. Distribution of broadband High Gamma Activity (HGA) in electrocorticography (ECoG) appeared with stable and repeatable results compared to ECS-symptoms. We hypothesized that the symptomatic variation might be caused by ECS timing. This study aims to apply short-term ECS with different timing, taking HGA dynamics into account, and the crucial timing of short-ECS might potentially disrupt functional brain rhythms, causing neuromodulation. The purpose of this study is to identify the results of dynamics by short-term ECS that would shed light neurophysiological basics of routine ECS. This study aims to determine the most effective short-term ECS timing based on HGA dynamics. Methods:Two patients participated in this study, starting with overt picture-naming (PN), a sham task without ECS, to observe HGA profiles. The ECoG locations with strong HGA were selected for ECS trials with different onset timings (350-1000 ms post-stimulus). Results:In the PN task with no ECS, HGA peaked between 454 and 684 ms in the patients. ECS before the HGA peaks caused symptoms, and error rates became 92% and 47%, whereas post-peak ECS errors reduced to 37% and 13%. In addition, the response times became significantly slower for pre- vs post-peak ECS. Conclusions:A strong relationship exists between the HGA and the ECS-timing. Short ECS disrupts brain functions and networks when appropriately aligned with the HGA. Combining HGA dynamics with ECS reveals the functional distribution and physiological dynamics during naming tasks. Significance:Optimizing the ECS timing can enhance the efficiency and consistency of routine mapping procedures and neuromodulation.
Zinc Finger Protein 711 (ZNF711) is a Krüppel-type zinc finger transcription factor highly expressed in the brain and whose mutations have been associated with neurodevelopmental disorders such as intellectual disability, autism spectrum disorder, and epilepsy. While most pathogenic variants previously described affect the C-terminal DNA-binding domain, we report two siblings carrying a rare hemizygous missense variant in the N-terminal transactivation domain, NM_001330574.2: c.65 T > C (p.Ile22Thr), inherited from their heterozygous unaffected mother. Patient #1 presents with autism spectrum disorder, epilepsy, moderate intellectual disability, and mild facial dysmorphisms, whereas Patient #2 shows milder autism spectrum disorder traits and no clinical seizures, although electroencephalogram abnormalities are present. In silico analyses predict that this variant, affecting a highly conserved residue, may disrupt protein structure and thus impair its proper function. The recurrence of this variant in the two siblings reported here and in those reported in Minerva et al. (2025) sharing overlapping phenotypes strengthens its potential pathogenicity, despite current classification as a variant of uncertain significance.
Objective:To describe the temporal and spatial dynamics of electroencephalographic (EEG) recordings in epilepsy following autoimmune encephalitis (AE) compared to temporal lobe epilepsy (TLE) without signs of inflammatory etiology. Methods:We assessed electroencephalographic properties using continuous long-term (72-h) EEG recordings in combination with neuroimaging markers and cerebrospinal fluid (CSF) parameters of 25 patients with epilepsy following AE and 30 patients with TLE. We specifically investigated the presence of focal slowing (FS) and epileptiform discharges (EDs). Additionally, spectral EEG variability during wakefulness and sleep was analyzed using quantitative EEG analysis. Results:Compared to TLE, patients with AE showed significantly more independent bitemporal FS and independent bitemporal EDs (p < 0.05), with a higher co-occurrence of both patterns (p < 0.05). Quantitative analysis of wake and sleep EEG revealed greater spectral variability in AE, particularly in the temporal regions. A composite score incorporating EEG data, MRI and CSF parameters, as well as clinical features, effectively distinguished AE from TLE (p < 0.0001). Using the same variables, principal component analysis also demonstrated clear separation between the two groups. Significance:These results demonstrate distinct and quantifiable EEG characteristics in epilepsy following AE. The identified EEG patterns and the proposed score may serve as biomarkers for differentiating between epilepsy following AE and TLE of non-inflammatory etiology. This approach can aid clinicians in determining the need for further diagnostic testing or optimizing therapy decisions in the post-acute phase, where clinicians frequently encounter patients with new-onset or evolving epilepsy in whom a current or prior inflammatory etiology is suspected. In this scenario, a precise understanding of post-acute EEG characteristics may be clinically relevant to assess the probability of an underlying autoimmune/inflammatory process and to guide the immune-directed evaluation, antiseizure medication optimization, and epilepsy-surgical evaluation.
Purpose:To characterize the epileptic network and postoperative network remodeling in a rare case of right cuneus meningioangiomatosis (MA) with electro-clinical discordance, we integrated electroencephalography (EEG), fluorodeoxyglucose positron emission tomography (FDG-PET), and resting-state fMRI (rs-fMRI). Methods:A 16-year-old male with drug-resistant focal impaired-awareness seizures and a right cuneus lesion underwent preoperative multimodal evaluation. Preoperative video-EEG, magnetic resonance imaging (MRI)/computed tomography (CT), and FDG-PET were obtained; gross total resection confirmed MA. Pre- and postoperative rs-fMRI were processed in DPABI. We computed lesion-seed functional connectivity (FC), fractional amplitude of low-frequency fluctuation (fALFF), Regional homogeneity (ReHo), and weighted degree centrality (DC; r > 0.25), then generated post-pre difference maps using Fisher z-transformed data and retained the top 5% of absolute voxel changes (cluster size >50 voxels). Results:Ictal EEG showed onset in the right parieto-occipital region with rapid spread to right temporal and frontal areas. FDG-PET revealed focal hypometabolism in the right cuneus and remote hypometabolism in the right mesial temporal and left central regions. Postoperatively, lesion-based FC decreased in bilateral primary sensorimotor, early visual, and superior temporal/opercular cortices, but increased in the ipsilesional dorsal occipito-parietal network. fALFF and ReHo decreased widely in peri-Rolandic and occipital regions; fALFF and DC increased in medial/superior frontal cortex and bilateral precuneus; DC decreased in inferior frontal opercular/triangular areas. Conclusion:Multimodal findings localized the seizure onset to the right posterior region with widespread propagation. Postoperative rs-fMRI showed network changes consistent with partial normalization, paralleling sustained seizure freedom-though causality cannot be inferred from a single case.
Early infantile developmental and epileptic encephalopathy (EIDEE) associated with extensive unilateral structural abnormalities is frequently characterized by drug-resistance and poor developmental outcomes. Although epilepsy surgery is recognized as a treatment option, the optimal timing of intervention in early infancy and detailed longitudinal postoperative developmental trajectories remain insufficiently characterized. We report a male infant with EIDEE due to extensive unilateral hemispheric malformation who underwent hemispherotomy at four months of age for persistent epileptic spasms with a suppression-burst pattern. The patient achieved sustained seizure freedom over five years and discontinued antiseizure medications two years postoperatively. Longitudinal developmental assessments showed continued acquisition of cognitive, language, and motor skills. Raw developmental measures increased steadily over time, whereas age-normed standardized scores remained below age-adjusted norms, indicating a gradual shift in developmental trajectory rather than normalization within the expected range. This case suggests that early consideration of surgical intervention may be associated with a favorable developmental trajectory in selected infants with EIDEE due to congenital structural abnormalities, particularly when drug-resistance is anticipated. Further investigation is needed to define optimal timing and patient selection.
Background:Rasmussen encephalitis (RE) is a rare, chronic inflammatory brain disorder that predominantly affects one hemisphere in children. It is characterized by progressive neurological deterioration and refractory seizures. Early diagnosis remains challenging due to nonspecific initial symptoms and diagnostic features that overlap with other neurological conditions. Objective:To identify early and specific EEG patterns that may support timely initiation of immunomodulatory therapies. Method:Continuous long-term video-EEG monitoring was repeatedly conducted in a female patient who experienced her first seizures at age 16, soon after a febrile illness. Results:Identification of two distinctive EEG patterns-focal periodic sharp-wave discharges and biphasic complexes-allowed early diagnosis prior to the onset of severe deficits or epilepsia partialis continua. The biphasic complexes occurred alongside unilateral slow-wave activity, whereas focal periodic sharp-wave discharges were initially observed on an otherwise normal background. The biphasic complexes appear to herald evolution to the acute phase of the disease. Prompt immunomodulatory therapy (intravenous immunoglobulin followed by adalimumab) successfully halted disease progression, nearly normalized EEG background activity, and reduced seizure frequency. Conclusions:This case underscores the prognostic value of recurrent focal periodic sharp-wave discharges and biphasic complexes as prodromal EEG biomarkers for RE, aligning with one prior study linking these biphasic complexes to early-stage disease (Beaumanoir et al., 1997). Early recognition of these patterns is essential. Early initiation of immunotherapy may prevent irreversible neurological damage, highlighting the critical role of recognizing these electrographic patterns for timely diagnosis and intervention.
Super-refractory status epilepticus (SRSE), defined as seizure activity persisting > 24 h despite anesthetic treatment, remains a therapeutic challenge with high morbidity and mortality. We report a 42-year-old man with Crohn's disease who developed SRSE following a right posterior cerebral artery infarction. Despite treatment with multiple antiseizure medications, immunotherapy, intravenous anesthetics, and barbiturate coma, seizures persisted for 80 days. A vagus nerve stimulator (VNS) was implanted on day 57 after status epilepticus onset. Clinical improvement began within days, and complete cessation of clonic seizures occurred 23 days after implantation, allowing withdrawal of anesthetic agents. The patient was discharged with mild residual deficits and achieved good long-term functional recovery. Follow-up MRI revealed progressive focal atrophy of the right postcentral gyrus, correlating with cortical sensory deficits. This case highlights that VNS may contribute to seizure termination in SRSE even when implanted late, although clinical effects may be delayed. It also illustrates that prolonged SRSE can lead to focal cortical atrophy beyond the mesial temporal lobe.
