Cases Of Epilepsy Research Articles

CHD2-related epilepsy with eyelid myoclonia: Report of three cases.

The aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with CHD2 pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with CHD2 variants. The medical records of those identified were reviewed to describe their presentation, treatment, and clinical course. Three patients (2 males, 1 female) with EEM were found to harbor de novo CHD2 pathogenic variants (c.2636C>T p.(Ala879Val), c.3734delA p. (Lys1245Asnfs*4), and c.3896delTinsCG p. (Val1299Alafs*5)). All three patients had comorbid autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit disorder (ADHD). Eyelid myoclonia was a prominent seizure type that persisted in the three patients despite trials of multiple antiseizure medications. Generalized tonic-clonic seizures occurred in two of the patients but were controlled with antiseizure medications. Genetic testing should be considered in patients presenting with EEM, especially when ADHD, ID, ASD, and drug-resistant seizures are present. Further understanding of the relationship between CHD2 variants and epileptogenesis may provide important insights into the pathogenesis of EEM.

A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism

This paper reports a case of a WDR45 variant inherited from an asymptomatic low-percentage mosaic mother. The proband boy was found to have significant psychomotor developmental delay, epilepsy, and abnormal liver function at four months of age, and a hemizygous variant WDR45 c.867_869dupGTA (p.Y290*) was detected by high throughput sequencing, which has an ACMG rating of likely pathogenic variant. The same variant was detected by high-throughput sequencing of the amniotic fluid of the fetus at his mother’s next pregnancy. Eventually, the same variant was detected in mosaic status in the unaffected mother by target capture-based deep sequencing of the asymptomatic mother, with a mutation load of 4.06 %.

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

We studied the distribution of germline and somatic variants in epilepsy surgery patients with (suspected) malformations of cortical development (MCD) who underwent surgery between 2015 and 2020 at University Medical Center Utrecht (the Netherlands) and pooled our data with four previously published cohort studies. Tissue analysis yielded a pathogenic variant in 203 of 663 (31%) combined cases. In 126 of 379 (33%) focal cortical dysplasia (FCD) type II cases and 23 of 37 (62%) hemimegalencephaly cases, a pathogenic variant was identified, mostly involving the mTOR signaling pathway. Pathogenic variants in 10 focal epilepsy genes were found in 48 of 178 (27%) FCDI/mild MCD/mMCD with oligodendroglial hyperplasia and epilepsy cases; 36 of these (75%) were SLC35A2 variants. Six of 69 (9%) patients without a histopathological lesion had a pathogenic variant in SLC35A2 (n = 5) or DEPDC5 (n = 1). A germline variant in blood DNA was confirmed in all cases with a pathogenic variant in tissue, with a variant allele frequency (VAF) of ~50%. In seven of 114 patients (6%) with a somatic variant in tissue, mosaicism in blood was detected. More than half of pathogenic somatic variants had a VAF < 5%. Further analysis of the correlation between genetic variants and surgical outcomes will improve patient counseling and may guide postoperative treatment decisions.

Multimodal and quantitative analysis of the epileptogenic zone network in the pre-surgical evaluation of drug-resistant focal epilepsy

Surgical resection for epilepsy often fails due to incomplete Epileptogenic Zone Network (EZN) localization from scalp electroencephalography (EEG), stereo-EEG (SEEG), and Magnetic Resonance Imaging (MRI). Subjective interpretation based on interictal, or ictal recordings limits conventional EZN localization. This study employs multimodal analysis using high-density-EEG (HDEEG), Magnetoencephalography (MEG), functional-MRI (fMRI), and SEEG to overcome these limitations in a patient with drug-resistant MRI-negative focal epilepsy. A 17-year-old with drug-resistant epilepsy underwent evaluation. HDEEG, MEG, fMRI, and SEEG were used, with a novel HDEEG-cap facilitating simultaneous EEG-MEG and EEG-fMRI recordings. Electrical and magnetic source imaging were performed, and fMRI data were analysed for homogenous regions. SEEG analysis involved spike detection, spike timing analysis, ictal fast activity quantification, and Granger-based connectivity analysis. Non-invasive sessions revealed consistent interictal source imaging results identifying the EZN in the right anterior cingulate cortex. EEG-fMRI highlighted broader activation in the right cingulate cortex. SEEG analysis localized spikes and fast activity in the right anterior and posterior cingulate gyri. Multi-modal analysis suggested the EZN in the right frontal lobe, primarily involving the anterior and mid-cingulate cortices. Multi-modal non-invasive analyses can optimise SEEG implantation and surgical decision-making. Invasive analyses corroborated non-invasive findings, emphasising the importance of individual-case quantitative analysis across modalities in complex epilepsy cases.

Drug-resistant epilepsy cases in chromosomal pathology

Two cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested in the child by generalized tonic-clonic seizures, delayed psycho-verbal development, and facial skull microanomaly. In the second case, it was expressed in tonic epileptic seizures, delayed psycho-verbal development, developmental microanomalies, pyramidal atactic syndrome and hand joint hypermobility. Such clinical observations are of professional and scientific interest, as they relate to a rare neurological pathology, with drug-resistant epilepsy as a leading sign.

Nationwide epidemiological study of epilepsy in Montenegro

The aim of this study was to estimate the incidence and prevalence of epilepsy in Montenegro over the period 2011–2022 using hospital case records. The main sources for this study were hospital case records in every outpatient and inpatient neurological department in Montenegro, including the Clinical Center of Montenegro in the capital, a primary referral national center for epilepsy. For every patient, aged 18 and above, two neurologists reviewed all data collected to verify the validity of the diagnosis and to establish the date of clinical onset of the disease. Information on age and sex, EEG, CT scan, and MRI were included. Prevalent cases were selected in 2022 population. Incident cases of epilepsy were identified in 2011 and the incidence trend was followed up for the next 12 years. Crude and standardized incidence and prevalence were calculated. Average crude incidence rate of epilepsy for study period was 56.0 per 100,000 individuals (men 58.1; women 54.2). The age-specific incidence was lowest in the 30 s, and early 40 s and highest after 65 years. Over the 12-year period, increasing trend of standardized epilepsy incidence rates was observed for the total population and for females (p = 0.024 and p = 0.020 respectively). The crude overall prevalence of epilepsy on December 31, 2022 was 13.0 per 1000 individuals (men 13.5; women 12.6). The highest prevalence was in patients in their early 20 s and in the seventh decade. In conclusion, the incidence of epilepsy in this study was similar to those of other industrialized countries, with increasing trend during study period. Prevalence was higher compared to European countries.

Overcoming Diagnostic Uncertainty: A Case of Temporal Lobe Epilepsy With Normal MRI and EEG

Overcoming Diagnostic Uncertainty: A Case of Temporal Lobe Epilepsy With Normal MRI and EEG

Incident Epilepsy Among US Medicare Beneficiaries, 2019: Differences by Age, Sex, and Race/Ethnicity.

Epilepsy is common among older adults, but previous incident studies have had limited ability to make comparisons across key subgroups. We aimed to provide updated epilepsy incidence estimates among older adults, comparing across age, sex, and race/ethnicity. Using a random sample of 4,999,999 US Medicare beneficiaries older than 65 years, we conducted a retrospective cohort study of epilepsy incidence using administrative claims for 2016-2019. Sampled beneficiaries were enrolled in the Fee-for-Service (FFS) program in each of 2016-2018 and had no epilepsy claims in those years. Non-Hispanic Black and Hispanic beneficiaries were oversampled to ensure adequate cases for detailed comparisons. Incidence in 2019 was identified in the Master Beneficiary Summary File as ≥1 inpatient claim or ≥2 outpatient nondrug claims occurring at least 1 day apart (ICD-10 G40.x). Incidence models were estimated by age, sex, race/ethnicity, and combinations thereof, with adjustment for the racial/ethnic oversampling. We identified 20,545 incident epilepsy cases. The overall epilepsy incidence rate (IR) was 393 per 100,000 (99% CI 385-400). Incidence peaked at ages 85-89 (504 [481-529]) and was higher for men (396 [385-407]) than women (376 [366-385]). The sex difference in IRs was constant with age. Incidence was higher for non-Hispanic Black (678 [653-702]) and Hispanic (405 [384-426]), and lower for non-Hispanic Asian/Pacific Islander (272 [239-305]) beneficiaries, compared with non-Hispanic White beneficiaries (354 [299-408]). The age-specific IRs significantly differed by race/ethnicity and sex, but only among non-Hispanic Black beneficiaries-where men had higher rates at younger ages and women at older ages. We found higher epilepsy IRs among those enrolled in the Medicare FFS system 2016-2019 than previous studies using Medicare claims data from at least a decade ago. The risk of epilepsy onset is higher for those in their late 80s, men, and non-Hispanic Black and Hispanic older adults. There is also evidence that these age-graded risks operate differently for Black men and Black women. Efforts to provide care and services that improve quality of life for older adults living with epilepsy should consider differences by multiple social characteristics simultaneously: age, sex, and race/ethnicity.

Interictal gamma oscillation regularity analysis and susceptibility-weighted imaging on focal epilepsy cases with alcohol use disorders

Interictal gamma oscillation regularity analysis and susceptibility-weighted imaging on focal epilepsy cases with alcohol use disorders

MNGA-01 ÉPILEPSIE LIÉE AU MÉNINGIOME: À PROPOS DE DEUX CAS

Abstract BACKGROUND Meningiomas are the most common intracranial primary neoplasms. Seizures are a common manifestation of these tumors (10% to 50%). PURPOSE To present 2 cases of meningioma-related epilepsy and discuss the predictive factors for preoperative and postoperative seizures, their physiopathology and their management. CASE REPORTS The first patient is a 36-years-old male with a 16 years history of epilepsy revealing an underlying left frontoparietal meningioma which benefited from a Simpson grade 1 surgical resection with a seizure free postoperative outcome. The second patient is a 46-years-old man with a 6 months history of seizures revealing a right parieto-occipital meningioma requiring surgical removal with persistence of seizures on postoperative follow-up. CONCLUSION Seizures are a common occurrence both prior to and after meningioma resection, and can have a significant negative impact on patient quality of life. Further efforts are required for better understanding and predicting seizures in meningioma as well as plan their medical treatment.

Memory compromise at extended delays in people with new-onset epilepsy.

Memory is one of the most sensitive markers of cognitive compromise in people with new-onset epilepsy. Nonetheless, around half of these cases score within the normal range on standard memory testing. Here we explore whether memory retention at a 1-week delay reveals otherwise undetected memory compromise in such individuals, and how it relates to subjective memory complaints and mood. Using a prospective design, 38 adults with new-onset epilepsy underwent baseline memory screening via telephone using an abbreviated Rey Auditory Verbal Learning Test (RAVLT). Psychological screening occurred via online questionnaires. One week later, without forewarning, participants completed three follow-up memory tasks. Of particular focus, we explored longer-term memory performances and forgetting trajectories in those individuals (n = 23) who demonstrated normal memory performances (scores >10th percentile) at baseline (30-min delay). Outcomes were compared to 32 healthy controls, matched for age, sex, and education. As a group, people with epilepsy performed worse than controls on all memory measures, with 44 percent impaired at baseline testing. Of those unimpaired at baseline, the rate and volume of information loss over 1 week was significantly greater than for controls. Contextual memory performance at 1 week was also significantly poorer for people with epilepsy. At the individual level, the prevalence of impaired forgetting was not significantly different between patients and controls. Subjective memory complaints were not related to any objective tests but were strongly related to self-reported mood and anxiety symptoms. People with new-onset epilepsy show reduced memory at short and extended intervals. For those showing normal memory at baseline, information does appear to be forgotten more quickly than in healthy controls, though the effect is not large. The findings indicate that while extended delay memory testing is not essential in all new epilepsy cases, it could provide useful information for particular individuals. Memory problems are common in people with epilepsy shortly after seizure onset, however, many individuals still show normal memory performances on standard neuropsychological testing. Through testing memory at an extended timepoint (1 week), our study found that on average, these individuals showed a slightly quicker rate of forgetting over a 1-week period than people without a brain condition. Self-reported memory complaints in people with new epilepsy were unrelated to their actual memory skills on testing at short and long timepoints but were rather linked to lower mood and quality of life.

Ketogenic Diet as a Therapeutic Intervention for Doose Syndrome: A Case Report and Review of Current Evidence

Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome or myoclonic–astatic epilepsy (MAE), represents a challenging pediatric epilepsy syndrome, initially described by Doose et al. in 1970. MAE accounts for 1%–2.2% of juvenile-onset epilepsy cases, characterized by normal early development, followed by seizure onset between 7 months and 6 years. Seizure types include myoclonic, myoclonic-atonic, generalized tonic–clonic, and atypical absences, often accompanied by nonconvulsive status epilepticus. Electroencephalogram typically shows parietal-dominant rhythmic theta activity or a posterior 4 Hz pattern. While conventional antiseizure medications (ASMs) offer some efficacy, outcomes vary widely, and up to 50% of patients may experience refractory seizures and poor intellectual outcomes. The ketogenic diet (KD), a high-fat, low-carbohydrate diet inducing ketosis, has shown promise in reducing seizure frequency and severity in refractory epilepsy, including MAE. This case report describes a successful outcome with a South Indian style KD in a 3-year-old boy with Doose syndrome presenting with 20–25 daily head drop seizures despite multiple ASMs and steroid therapy. Initiation of a home-based KD utilizing traditional household ingredients significantly reduced seizure frequency by 60% within 1 month and 80% within 2 months and was 100% seizure-free in 3rd month following KD, alongside developmental improvements. The KD was well-tolerated, with improved nutritional status. This case underscores KD’s potential as a viable complementary therapy for MAE, emphasizing the need for ongoing parental support and supervision to ensure dietary adherence and optimize outcomes. It is commonly believed that the KD is challenging for the South Indian population to follow due to the high carbohydrate content in South Indian cuisine. However, this case demonstrates that a KD can indeed be tailored around South Indian dishes, highlighting the uniqueness of this approach. When the diet is customized to consider a child’s dietary habits, culture, and cuisine, it becomes easier to follow over the long term, leading to effective seizure control. Further research is necessary to refine dietary protocols and evaluate long-term efficacy in MAE management.

The correlation of GluR3B antibody with T lymphocyte subsets and inflammatory factors and their role in the progression of epilepsy

ObjectiveTo investigate changes in proportions of peripheral blood lymphocyte subsets, the correlation between the lymphocyte subsets and cytokine levels in patients with GluR3B antibody-positive epilepsy, analyze the role of GluR3B antibodies and cytokines in the progression of epilepsy. In addition, the immunotherapeutic effect in patients with GluR3B antibody-positive epilepsy will be evaluated.MethodsPatients with epilepsy hospitalized in the Department of Neurology of the affiliated Hospital of Xuzhou Medical University from December 2016 to May 2023 were recruited. GluR3B antibody levels were measured by enzyme-linked immunosorbent assay (ELISA). Lymphocyte subset proportions were determined using flow cytometry, and serum concentrations of 12 cytokines were measured using cytometric beads array. Differences in T lymphocyte subsets and inflammatory factors were analysed between GluR3B antibody positive and negative patients. Structural equation modeling (SEM) was used to analyse the role of GluR3B antibodies and inflammatory factors in drug-resistant epilepsy (DRE). Finally, the therapeutic effect of immunotherapy on epilepsy patients with GluR3B antibodies was assessed.ResultsIn this study, sixty-four cases of DRE, sixty-six cases of drug-naïve epilepsy (DNE), and forty-one cases of drug-responsive epilepsy were recruited. (1) DRE patients with positive GluR3B antibody were characterized by a significant increase in the proportion of cluster of differentiation (CD)4+ T lymphocytes, a decrease in CD8+ T lymphocytes, and an increase of CD4+/CD8+ ratio. Similar alterations in T lymphocyte subsets were observed in GluR3B antibody-positive patients with DNE. GluR3B antibody levels correlated positively with CD4+ T lymphocytes (r = 0.23) and negatively with CD8+ T lymphocytes (r=-0.18). (2) In patients with DRE, the serum concentrations of interleukin-1β (IL-1β), IL-8, and interferon-gamma (IFN-γ) were significantly higher in those with positive GluR3B antibody compared to those with negative GluR3B antibody. Serum IL-1β levels were also higher in GluR3B antibody-positive DNE patients compared to antibody-negative DNE patients. In drug-responsive epilepsy patients with GluR3B antibody-positive, both serum IL-1β and IFN-γ levels were higher than those with GluR3B antibody-negative. Moreover, the concentrations of serum GluR3B antibody were positively correlated with the levels of IL-1β, IL-8, and IFN-γ. (3) SEM analysis indicated that GluR3B antibody may be a direct risk factor for DRE (direct effect = 4.479, 95%CI 0.409–8.503), or may be involved in DRE progression through affecting IFN-γ and IL-8 levels (total indirect effect = 5.101, 95%CI 1.756–8.818). (4) Immunotherapy significantly decreased seizure frequency and serum GluR3B antibody levels, and the seizure frequency was positively correlated with the levels of GluR3B antibody levels in patients receiving immunotherapy.ConclusionsThis study demonstrates that GluR3B antibody may influence the progression of epilepsy through altering the proportion of CD4+ and CD8+ lymphocyte subsets and increasing proinflammatory cytokines. The seizure suppression of immunotherapy is associated with the decrease of GluR3B antibody levels. Thus, the present study contributes to a better understanding of the immunoregulatory mechanisms of autoimmune-associated epilepsy and provides a potential target for DRE.

Brain imaging traits and epilepsy: Unraveling causal links via mendelian randomization.

Epilepsy, a complex neurological disorder, is closely linked with structural and functional irregularities in the brain. However, the causal relationship between brain imaging-derived phenotypes (IDPs) and epilepsy remains unclear. This study aimed to investigate this relationship by employing a two-sample bidirectional Mendelian randomization (MR) approach. The analysis involved 3935 cerebral IDPs from the UK Biobank and all documented cases of epilepsy (all epilepsies) cohorts from the International League Against Epilepsy, with further validation through replication and meta-analyses using epilepsy Genome-Wide Association Studies datasets from the FinnGen database. Additionally, a multivariate MR analysis framework was utilized to assess the direct impact of IDPs on all epilepsies. Furthermore, we performed a bidirectional MR analysis to investigate the relationship between the IDPs identified in all epilepsies and the 15 specific subtypes of epilepsy. The study identified significant causal links between four IDPs and epilepsy risk. Decreased fractional anisotropy in the left inferior longitudinal fasciculus was associated with a higher risk of epilepsy (odds ratio [OR]: 0.89, p=3.31×10-5). Conversely, increased mean L1 in the left posterior thalamic radiation (PTR) was independently associated with a heightened epilepsy risk (OR: 1.14, p=4.72×10-5). Elevated L3 in the left cingulate gyrus was also linked to an increased risk (OR: 1.09, p=.03), while decreased intracellular volume fraction in the corpus callosum was correlated with higher epilepsy risk (OR: 0.94, p=1.15×10-4). Subtype analysis revealed that three of these IDPs are primarily associated with focal epilepsy (FE). Notably, increased L1 in the left PTR was linked to an elevated risk of hippocampal sclerosis (HS) and lesion-negative FE, whereas elevated L3 in the left cingulate gyrus was associated with HS-related FE. Our research offers genetic evidence for a causal link between brain IDPs and epilepsy. These results enhance our understanding of the structural brain changes associated with the onset and progression of epilepsy.

The role of vagal nerve stimulation on psychosocial associated disorders in refractory epilepsy patients.

To determine the effects of vagal nerve stimulation on cognition and epilepsy-associated psychosocial problems in patients with intractable epilepsy, and to assess their relation to seizure decline. The longitudinal study was conducted at Saad Al-Witry Neurosciences Hospital, Baghdad, Iraq, from December 2015 to December 2020, and comprised refractory epilepsy cases with implanted vagal nerve stimulation devices. They were subjected to pre- and post-implantation epilepsy protocol assessment with added neuropsychological evaluation using the Mini-Mental State Examination system. Each case was followed up for 2 years post-implantation. Descriptive data regarding patient records of age, seizure nature, mental functioning level, and vagal nerve stimulation insertion was noted. Data was analysed using SPSS 21. Of the 150 patients, 75(50%) each were males and females, with 70(46.7%) aged <10 years at the time of surgery. Overall, 80(53.3%) patients had partial seizures with secondary generalisation, 70(46.7%) had refractory seizure attacks for <5 years, 78(52%) had attack frequency of 2-5 per day. All 150(100%) patients had had vagal nerve stimulation for >2 years. Post-intervention, 80(53.3%) patients had <2 attacks per day. Mini-Mental State Examination score was >25 in 35(23.3%) patients which post-intervention rose to 64(42.7%). There was evidence of improvement with respect to patient characteristics predictive of vagal nerve stimulation-related cognition and neuropsychological responsiveness in refractory epilepsy.

Severe, uncontrolled epilepsy in pregnancy: A population-based case-control study

Background Epilepsy affects one percent of the UK population and is the most common serious neurological condition experienced during pregnancy. We compared the characteristics, clinical management, and pregnancy outcomes in women with severe, uncontrolled epilepsy to those of women with well controlled disease. Methods We conducted a population-based case-control study in all UK consultant-led maternity units. Cases of severe uncontrolled epilepsy during pregnancy were identified prospectively and reported via the UK Obstetric Surveillance System (UKOSS). Severe epilepsy was defined a-priori as ≥1 of the following: admission to hospital during pregnancy to manage seizures; prescribed ≥3 antiepileptic medications; or died from epilepsy. Controls comprised women with epilepsy not meeting the case definition, identified within the same centres as cases. Pre-pregnancy epilepsy control and pregnancy outcomes were compared between groups using multivariable logistic regression. Results We identified 94 cases between 1 October 2015 and 31 March 2017 and compared these with 186 controls. Cases were significantly more likely to be admitted to manage seizures in the year preceding pregnancy (42/94 cases vs 10/186 controls, adjusted odds ratio [aOR]=7.38 [95% CI 2.70-20.2]), and to report their most recent seizure within 3 months of pregnancy (51/94 cases vs 18/186 controls, aOR=5.86 [95% CI 2.30-15.0]). Cases were significantly more likely to deliver before 37 weeks (20/94 cases vs 8/186 controls, aOR=7.61 [95% CI 2.87-20.2]). Conclusions Women admitted for seizure management in the year before pregnancy are at higher risk of severe epilepsy during pregnancy and of preterm birth. These women should be prioritised for discussion about pregnancy and contraception. When pregnant, they should be reviewed as early as possible by specialists in the management of epilepsy during pregnancy. Delivering messages about the importance of pregnancy planning and contraception to all women with epilepsy should be viewed as the responsibility of all clinicians involved their care.

SCN1A rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy.

A significant subset of individuals with epilepsy fails to respond to currently available antiepileptic drugs, resulting in heightened mortality rates, psychosocial challenges, and a diminished quality of life. Genetic factors, particularly within the SCN1A gene, and the pro-inflammatory cytokine response is important in intricating the drug resistance in idiopathic epilepsy cases. In this extended study, we determined the correlation of rs6732655A/T single nucleotide polymorphism to understand the causative association of SCN1A gene with epilepsy drug resistance and inflammatory response. To find the correlation of SCN1A gene rs6732655A/T polymorphism with the drug-resistant epilepsy and inflammatory response. The study enrolled 100 age and sex-matched patients of both drug-resistant and drug-responsive epilepsy cases. We analysed the rs6732655A/T polymorphism to study its association and causative role in drug-resistant epilepsy cases using restriction fragment length polymorphism technique. The diagnostic performance of interleukin (IL)-1β, IL-6, and high mobility group box 1 (HMGB1) protein levels was evaluated in conjunction with genotypic outcome receiver operating characteristic analysis. AT and AA genotypes of rs6732655 SCN1A gene polymorphism were associated with higher risk of drug resistance epilepsy. Serum biomarkers IL-6, IL1β and HMGB1 demonstrated diagnostic potential, with cutoff values of 4.63 pg/mL, 59.52 pg/mL and 7.99 ng/mL, respectively, offering valuable tools for epilepsy management. Moreover, specific genotypes (AA and AT) were found to be linked to the elevated levels of IL-1β and IL-6 and potentially reflecting increased oxidative stress and neuro-inflammation in drug-resistant cases supporting the previous reported outcome of high inflammatory markers response in drug resistance epilepsy. SCN1A genotypes AA and AT are linked to higher drug-resistant epilepsy risk. These findings underscore the potential influence of inflammation and genetics on epilepsy treatment resistance.

Altered Cytokine Profile in Clinically Suspected Seronegative Autoimmune Associated Epilepsy.

Autoimmune-associated epilepsy (AAE), a condition which responds favorably to immune therapies but not traditional anti-seizure interventions, is emerging as a significant contributor to cases of drug-resistant epilepsy. Current standards for the diagnosis of AAE rely on screening for known neuronal autoantibodies in patient serum or cerebrospinal fluid. However, this diagnostic method fails to capture a subset of drug-resistant epilepsy patients with suspected AAE who respond to immunotherapy yet remain seronegative (snAAE) for known autoantibodies. To identify potential biomarkers for snAAE, we evaluated the most comprehensive panel of assayed cytokines and autoantibodies to date, comparing patients with snAAE, anti-seizure medication (ASM) responsive epilepsy, and patients with other neuroinflammatory diseases. We found a unique signature of 14 cytokines significantly elevated in snAAE patients including: GM-CSF, MCP-2/CCL8, MIP-1a/CCL3, IL-1RA, IL-6, IL-8, IL-9, IL-10, IL-15, IL-20, VEGF-A, TNF-b, LIF, and TSLP. Based on prior literature, we highlight IL-6, IL-8, IL-10, IL-13, VEGF-A, and TNF-b as potentially actionable cytokine biomarkers for snAAE, which could be of diagnostic utility in clinical evaluations of snAAE patients. Autoantibody-ome screening failed to identify autoantibodies targeting neuronal channel proteins in snAAE patients. Interestingly, ASM-responsive epilepsy patients displayed elevations in the proportion of autoantibodies targeting brain plasma membrane proteins, possibly pointing to the presence of immune hyperactivity/dysfunction despite well-controlled seizure activity and suggesting ASM-responsive patients may experience disease progression independent of seizure activity (PISA). Overall, our findings suggest that simply expanding existing autoantibody screens may not sufficiently enhance diagnostic power for snAAE. Instead, we propose that cytokine analysis may serve as a promising diagnostic avenue for identifying immune dysregulation in AAE patients and enabling opportunities for trials of immunotherapies.

Epilepsy Among School-Children in a Rural District in Northwest India: Prevalence Estimates Using Three Different Approaches.

To estimate and compare the prevalence of epilepsy during childhood using several approaches and also to determine whether school-based screening campaigns can capture epilepsy cases efficiently. Epilepsy prevalence determined from cases captured through the Rashtriya Bal Swasthya Karyakram (RBSK), a nationwide school-health screening framework, were compared with estimates derived from school- and community-based surveys in one Indian district. Level-1 screen comprised perusal of child health registers maintained by the RBSK teams over one year to estimate the documented number of children with epilepsy; Level-2 screen comprised a questionnaire-based school survey among 10,000 school children; and Level-3 screen-a door-to-door community-based survey among 10,000 children in the district. Prevalence estimates of childhood epilepsy varied significantly across screening methods. The child health register identified lower crude and age-adjusted prevalences of 40 (95%CI, 24 to 55) and 36 (95%CI, 20 to 51)/1,00,000 vis-à-vis both the school survey [crude and age-adjusted prevalences of 354 (95%CI, 221 to 487) and 340 (95%CI, 181 to 517) per 100,000] and the community survey [crude and age-adjusted prevalences of 759 (95%CI, 591 to 927) and 746 (95%CI, 579 to 914) per 100,000]. The community survey identified 15 children with epilepsy (20%) who had dropped out of school. Also, it recaptured a small number of children previously identified by the school or child health register surveys. The present findings underscore the need to scale up the capacity of public programs to screen epilepsy among school children and underline the high frequency of school dropouts among children with epilepsy in resource-limited settings.

Anti-seizure Medications: Challenges and Opportunities.

Epilepsy is a chronic neurological condition characterized by unprovoked, recurrent seizures. There are several types of epilepsy, and the cause of the condition can vary. Some cases of epilepsy have a genetic component, while others may be caused by brain injuries, infections, or other underlying conditions. Treatment for epilepsy typically involves anti-seizure medications (ASMs), although different approaches, such as surgery or a special diet, may be considered in specific cases. The treatment aims to effectively manage and potentially eliminate seizures while minimizing any accompanying side effects. Many different ASMs are available, and the choice of medication depends on several factors, including the type of seizures, the patient's age, general health, and potential drug interactions. For the treatment of epilepsy, there have been significant advancements in recent decades, which have led to the approval of many different ASMs. Newer ASMs offer a broader range of mechanisms of action, improved tolerability profiles, and reduced drug interactions compared to older drugs. This review aims to discuss the pharmacological characteristics, clinical applications, effectiveness, and safety of ASMs, with a particular emphasis on various age groups, especially children. Moreover, this review seeks to provide a comprehensive understanding of ASM therapy for epilepsy management, assisting physicians in selecting suitable ASMs for their patients.