Epilepsia最新文献

Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource-limited settings. This narrative review explores the potential of video-based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification. We reviewed literature on the diagnostic utility of video-only seizure recordings, advances in AI-driven video analysis, and existing implementation models. We synthesized clinical, technological, and health-economic perspectives to propose a framework for integrating video-based diagnostics into epilepsy care. Smartphone-recorded videos provide diagnostically relevant semiological data across age groups and seizure types. Manual expert video review establishes a high diagnostic baseline; a meta-analysis of 13 studies (n = 682) demonstrated a pooled sensitivity of 82.2% and specificity of 84.7% for differentiating epileptic events. Advancements in AI and computer vision are effectively automating this process; our review of eight pivotal validation studies indicates that deep learning algorithms now achieve sensitivities of 82%-100% for convulsive seizures in controlled settings. However, performance varies significantly in real-world environments, with false detection rates ranging from .05 to >12 per night depending on the setting and seizure type. Implementation challenges include data scarcity, generalizability, regulatory frameworks, and reimbursement gaps. Widespread adoption requires standardized protocols, validated algorithms, secure data infrastructure, and economic incentives. Overall, video-based diagnostics, particularly when enhanced by AI, represent an underutilized and scalable opportunity to close the epilepsy diagnostic gap. They offer potential to reduce diagnostic delays, improve seizure classification, and increase access to expert care across clinical settings, including homes, emergency departments, and low-resource regions. Strategic investment in research, infrastructure, and policy reform is needed to fully realize this vision.

Objective: Epilepsy surgery is an effective treatment option for patients with medically refractory epilepsy due to mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE). The success of surgery depends on the accurate localization of the epileptogenic zone, which can be challenging due to the subtle imaging features. The aim of this project was to provide an in-depth electro-clinical characterization of MOGHE in patients with medically intractable epilepsy, and to assess the role of stereo-electroencephalography (SEEG) in tailoring the resection and optimizing surgical outcome.

Methods: This single-center retrospective study analyzes a cohort of patients with medically intractable focal epilepsy who underwent surgery and had confirmed MOGHE on pathology evaluation. Clinical data, including demographics, electroclinical features (scalp EEG and invasive monitoring when available), surgical interventions, and postoperative outcomes were extracted from electronic medical records.

Results: Of 23 patients identified, 10 (43%) underwent SEEG as part of their standard care. Seizure outcome data were available for 22 patients in this series. Median post-operative follow-up duration was 3.8 years. Fourteen patients (64%) were seizure-free (Engel 1). Seizure freedom in the SEEG group was 80% (n = 8/10), in comparison to the non-SEEG group (50%, n = 6/12). Success rate was related to complete resection of the regions sampled by SEEG electrodes involved in ictal onset, and a more extensive resection of the lesion (or near total lobectomy).

Significance: Our results underscore the pivotal role of SEEG in enhancing surgical outcomes in patients with drug-resistant epilepsy due to MOGHE. SEEG proved particularly beneficial in defining resection margins, especially in cases where non-invasive data were discordant, scalp EEG patterns were generalized or poorly localized, and imaging findings were nonspecific, diffuse, or normal, making lesion identification challenging.

Objective: To evaluate the long-term cognitive and memory outcomes in patients with drug-resistant temporal lobe epilepsy (TLE) treated with continuous hippocampal deep brain stimulation (Hip-DBS), particularly in individuals not eligible for resective surgery.

Methods: Nine patients (5 female; mean age 37 years) with drug-resistant TLE underwent unilateral or bilateral Hip-DBS via an occipital trajectory. Patients were selected based on bilateral independent seizure onsets, absence of resectable lesions, or high cognitive functioning. All patients underwent comprehensive pre- and post-operative neuropsychological assessments, including the Wechsler Adult Intelligence Scale (WAIS)/Wechsler Intelligence Scale for Children (WISC), Developmental Neuropsychological Assessment (NEPSY), Wechsler Memory Scale, and Rey Auditory Verbal Learning Test (RAVLT). Follow-up ranged from 24 to 121 months (mean: 68 months). Continuous bipolar stimulation was delivered using anterior hippocampal contacts as cathodes and posterior contacts as anodes.

Results: All patients demonstrated significant seizure reduction; four were seizure-free and five were responders (>80% reduction). No morbidity or mortality occurred. Cognitive outcomes remained stable across the cohort. No significant post-operative decline was observed in full-scale, verbal, or performance IQ or memory performance, regardless of unilateral or bilateral stimulation. One patient, with pre-existing major depression, exhibited cognitive decline and reduced memory scores. However, this was attributed to psychiatric deterioration rather than stimulation effects. Her symptoms stabilized following psychiatric treatment, and DBS was reinitiated without further cognitive decline.

Significance: This study provides long-term evidence supporting the cognitive safety and efficacy of continuous Hip-DBS in patients with refractory TLE. Both unilateral and bilateral stimulation were well tolerated, with preserved cognitive and memory function in high-functioning individuals. The findings reinforce the value of Hip-DBS as a non-resective alternative for patients with bilateral or eloquent temporal seizure onsets. Comprehensive psychiatric evaluation and long-term follow-up are critical for optimizing outcomes. Larger, multicenter studies are needed to refine stimulation protocols and better characterize cognitive trajectories.

Objective: The purpose of the study was to evaluate the usefulness and reliability of the Russian versions of the Global Assessment of Disability Related to Seizures (GADS) and Global Assessment of Severity of Epilepsy (GASE), as Patient-Reported Outcomes Measures (PROMs), among patients with epilepsy (PWE) in the Russian population. Additionally, we aimed to identify predictors of seizure-related disability and epilepsy severity in our patients.

Methods: Data from 186 adult PWE consecutively enrolled in the outpatient clinic of the Moscow Research and Clinical Center for Neuropsychiatry were used to assess the validity of the scales. Clinical and demographic data were collected. Patients completed the GADS and GASE scales and a range of other measures (Neurological Disorders Depression Inventory for Epilepsy, Epilepsy Anxiety Survey Instrument-brief version, Quality of Life in Epilepsy Inventory-31, EpiTrack, Epilepsy Stigma Scale) to assess the psychometric properties of the scales. Multiple linear regression models were developed to identify predictors of patient-reported disability from seizures and epilepsy severity.

Results: Both GADS and GASE demonstrated convergent validity, known-groups validity, and construct validity. The most significant predictors of GADS score included the frequency of seizures, achieving 1-year seizure freedom, official disability status, employment status, stigma, and anxiety. The main predictor of GASE scores was self-reported disability due to seizures (GADS), followed by quality of life, frequency of seizures, stigma, and cognitive function.

Significance: The study confirmed the validity and usefulness of the Russian versions of the GADS and GASE scales, which can be used in both clinical and research settings.

Objective: Status epilepticus (SE) is the most severe expression of seizures, encompassing both SE with prominent motor symptoms and nonconvulsive SE (NCSE). Ictal-interictal continuum (IIC), an electroencephalographic phenomenon, is characterized by periodic discharges (PD), spike-and-waves or sharp-and-waves (SW), or lateralized rhythmic delta activity (LRDA). Peri-ictal magnetic resonance imaging (MRI) abnormalities (PMA) may offer a potential surrogate marker for ictal activity, yet their association with IIC remains unclear. We aimed to investigate the occurrence of PMA in patients with SE and IIC, and to determine the relationship between IIC patterns and PMA through a latent cluster analysis (LCA).

Methods: In a prospective cohort study, 223 adult patients diagnosed with SE or IIC underwent electroencephalography (EEG) and MRI within 48 h of diagnosis. Patients were stratified into two groups: the IIC group and SE group. PMA were assessed using the following MRI sequences: diffusion-weighted imaging, fluid-attenuated inversion recovery, and arterial spin labeling. LCA was performed to identify classes based on etiology, EEG patterns, and their localization.

Results: PMA were as frequent in patients of the IIC group (23/49, 47%) as in patients of the SE group (64/149, 43%, p = .37). In the IIC group, peri-ictal hyperperfusion was more frequently associated with lower frequency PD/SW (.5-1 Hz; 12/19, 63%), followed by LRDA (4/13, 31%) and higher frequency PD/SW (>1-2.5 Hz; 4/17, 24%). LCA revealed two classes; Class 1, characterized by nonunilateral high-frequency PD/SW and triggering factors in epilepsy, had fewer PMA (18%) as compared to Class 2, characterized by predominantly unilateral low-frequency PD/SW and diverse etiologies (50%; odds ratio = 5.79, p = .02).

Significance: PMA occurrence in IIC aligned closely with that in SE, suggesting an overlap between IIC and SE and raising the critical question of whether patients with IIC may have NCSE. We propose an etiology-driven approach for EEG interpretation in IIC, which may enhance diagnostic accuracy and treatment strategies.

Objective: Lamotrigine is one of the most widely prescribed antiseizure medication (ASM) and mood stabilizer in the United States due to its favorable side-effect profile, lower risk of teratogenicity, and minimal drug-drug interactions. This study aimed to examine age- and sex-associated variability in prescribing and pharmacokinetics, focusing on postmenopausal women.

Methods: Data were from electronic health records. Individuals were included if ≥18 years and received an ASM between January 1, 2015 and December 31, 2021. Lamotrigine prescriptions were compared based on age, sex, epilepsy diagnosis, and monotherapy/polytherapy. Statistical comparisons of proportions were conducted using two-proportion tests. To characterize age- and sex-related differences in LTG apparent oral clearance and assess the impact of covariates, linear mixed-effects modeling was employed.

Results: Records were available for 314 890 individuals, with 23 906 patients being prescribed lamotrigine at least once (as monotherapy or polytherapy) for both epilepsy and non-epilepsy diagnoses. The lamotrigine prescription rate was lower in postmenopausal women compared to younger women but higher than in older men, irrespective of diagnosis. Notably, lamotrigine was prescribed as monotherapy more frequently to patients without epilepsy than those with epilepsy, regardless of sex and age. The clearance of lamotrigine was 22% lower in postmenopausal women compared to younger women and 9% in older men. Lamotrigine clearance increased by 49% and 11% with co-administration of inducers or the presence of smoking, respectively. Lamotrigine clearance decreased by 51% in the presence of an inhibiting medication.

Significance: Prescription rates for lamotrigine varied between patients with epilepsy and those with non-epilepsy conditions. Age and sex differences in pharmacokinetics suggest the need for lamotrigine dose adjustments, highlighting the importance of therapeutic drug monitoring in personalized epilepsy care. Lamotrigine use was less frequent in postmenopausal women compared to younger women but higher compared to older men. Postmenopausal women were prescribed lamotrigine as monotherapy to a lesser extent than younger women and older men.

Objective: Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug-resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social-emotional skill development are limited.

Methods: We prospectively assessed behavioral and social-emotional problems in the ENVISION natural history study (NCT04537832) of children with DS associated with SCN1A pathogenic variants (SCN1A+ DS) enrolled at <5 years of age. Assessments every 3 months for up to 2 years included the Child Behavior Checklist (CBCL), Strengths and Difficulties Questionnaire (SDQ), Brief Infant-Toddler Social and Emotional Assessment (BITSEA), and Vineland Adaptive Behavior Scales, 3rd Edition (VABS-3).

Results: Fifty-eight children with DS enrolled at 16 sites worldwide. Problematic behaviors-inattention, aggressive or oppositional behaviors, and withdrawn and autistic behaviors-began before age 3 years, became more evident with age, and were clinically significant in many children by age 3-4 years. CBCL Total, Externalizing, and Internalizing Problems T-scores rose by approximately 3 points per year, and BITSEA Problem scale scores increased by 2.3 points annually (p = .002). SDQ Hyperactivity scores worsened over time (p = .013), whereas emotional difficulties remained stable. VABS-3 Socialization domain scores, which were already more than 1 SD below the normative mean at baseline, decreased further, particularly in younger participants. Correlation analyses showed that poorer communication abilities were associated with increased problematic behaviors (R = -.55 for CBCL Total Problems and VABS-3 Communication scores). Mixed-effects modeling identified age as the strongest predictor of worsening behavioral outcomes.

Significance: We found that behavioral and social-emotional problems are inherent components of DS that present in toddlerhood and worsen throughout early childhood. This highlights the need to diagnose and manage these issues early. Targeted therapy may alleviate the wide-ranging morbidities that are intrinsic to DS, including the social-emotional and behavior problems that frequently emerge.

Objective: In epilepsy, daily treatment provides only symptomatic seizure control, leaving a significant unmet need for a treatment that affects the underlying predisposition to seizures. Here, in a first-of-its-kind study, we test the hypothesis that intermittent treatment of seizure clusters with diazepam in the kainic acid post-status epilepticus rat model of acquired epilepsy has an enduring effect on the seizure cluster phenotype, suggestive of potential disease modification.

Methods: Following kainic acid-induced status epilepticus, rats with epilepsy were monitored for occurrence of seizure clusters (≥2 seizures in 24 h) for a 3-week baseline period before entering a 6-week treatment period using a previously established multidose regimen of diazepam (n = 7) or vehicle (n = 9) upon identification of a seizure cluster. In a subsequent 2-week outcome period during which no rats received diazepam, we evaluated changes in seizure cluster size, burden (cluster size × severity), duration, and other phenotype parameters.

Results: A total of 3396 seizures and 216 seizure clusters were included for analysis. During the outcome period, time between seizures in a cluster (also interseizure interval [ISI]) was significantly longer in the diazepam group (log ISI = .25 longer, SE = .08, p < .0001), and the proportion of clustered seizures with an ISI of ≤30 min increased in the outcome period in the vehicle group (p = .023) but was stable in the diazepam group. Despite the occurrence of rebound seizures during the treatment period, improvement in several phenotypical parameters, including severity and proportion of seizures in a cluster, supported a positive impact of intermittent diazepam treatment on seizure cluster biology.

Significance: Changes in several seizure cluster phenotypical parameters were suggestive of an enduring disease-modifying effect of diazepam, despite an apparent rebound effect of intermittent diazepam treatment on seizure frequency. Further study is warranted using a model incorporating a background antiseizure medication regimen to potentially attenuate the unexpected rebound seizures.