搜索结果：Epileptic disorders : international epilepsy journal with videotape

This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic, therapeutic, and psychosocial challenges. Accurate diagnosis is hampered by limitations in communication, necessitating reliance on caregivers' observations. In adults with IDD and epilepsy, utilization of diagnostic tools, e.g., video electroencephalograph (EEG) monitoring, is helpful but can be challenging. Management requires careful consideration of cognitive and behavioral comorbidities and the effects of antiseizure medications (ASMs) on cognitive function and quality of life (QoL). Personalized treatment plans should balance seizure control against ASM side effects, prioritizing therapeutic goals aligned with individual patient needs. Effective multidisciplinary care involves primary care physicians, neurologists, psychiatrists, psychologists, social workers, therapists, and specialized nursing staff. Transition periods, including from pediatric to adult care, and from the family home to professional care, represent critical phases requiring structured planning and collaboration among health and social-care providers, patients, and caregivers. Current gaps in integrated care include the need for targeted therapeutic approaches, more tailored cognitive and behavioral assessment tools, guidelines for managing pregnancy and hormonal considerations, management of commonly associated comorbidities, including non-epileptic paroxysmal events, and reduction of preventable morbidity and mortality, including sudden death. This seminar emphasizes the necessity of addressing these gaps to advance care standards, promote research, and ultimately improve patient outcomes. The manuscript includes two anonymized illustrative clinical case studies. Practical recommendations include systematic reassessment of underlying etiologies, including genetic counseling and testing, reviewing the electroclinical diagnosis, careful selection and titration of ASMs to minimize cognitive and behavioral impacts, and structured transition. Addressing these challenges and implementing an integrated care model could significantly enhance QoL for adults living with IDD and epilepsy.

To investigate the extent to which seizure control and the occurrence of fetal malformation in an initial pregnancy can serve to anticipate the outcome in the next pregnancy. We analyzed the records of the Raoul Wallenberg Australian Register of Antiepileptic Drugs in Pregnancy for seizure control and fetal malformation data for women with epilepsy taking antiseizure medication in consecutive pregnancies. Seizure freedom rates throughout pregnancy were higher in the subsequent pregnancy than in the initial one (60.8% vs. 52.9%; RR 1.15, 95% CI 1.03, 1.28), particularly when the nature of antiseizure therapy was unchanged between pregnancies. Fetal malformation occurrence rates (5.9% and 6.2%, respectively) were similar, but tended to be higher in women with generalized rather than focal epilepsies (7.9% vs. 4.28%; RR 1.84, 95% CI 0.89, 3.81). If a small cohort with fetal malformations in both the initial and subsequent pregnancies (7 women, 8 pairs of pregnancies) was excluded, the RR value was smaller (1.24). All but one woman in this cohort had generalized epilepsies. The birth of a malformed baby tended to occur more frequently in the next pregnancy for women with generalized epilepsy and a malformed baby in the previous pregnancy than in similar women with focal epilepsies (50% vs. 7.7%; RR 6.5, 95% CI 0.92, 45.1). Compared with women with focal epilepsies, antiseizure medication-treated women with generalized epilepsy who give birth to a malformed baby appear to have a substantially greater risk of another malformed baby in their next pregnancy. Overall, seizure freedom rates were higher in subsequent pregnancies than in initial ones.

To evaluate outcomes in relation to epilepsy characteristics and genetic findings in pediatric patients with isolated low-grade epilepsy-associated tumors (LEAT) and LEAT plus focal cortical dysplasia type IIIb (FCD IIIb) who underwent epilepsy surgery. Patients younger than 19 years at the time of surgery, with isolated LEAT or LEAT plus FCD IIIb, and a minimum follow-up of 2 years were included. Clinical, neuroimaging, EEG, neuropsychological, surgical, histopathological, and molecular-genetic data were analyzed. Outcomes and potential predictors were assessed across four domains: seizures, antiseizure medication (ASM) use, cognition (Full Scale Intelligence Quotient, FS-IQ), and postoperative surgical complications. Seventy-one children fulfilled the inclusion criteria. Fifty-one (71.8%) had drug-resistant epilepsy. LEAT plus FCD IIIb were more frequent (43/71, 60.6%) than isolated LEAT (28/71, 39.4%). Gangliogliomas were the most common tumor type (39/71, 54.9%), followed by dysembryoplastic neuroepithelial tumors (16/71, 22.5%). Genetic testing demonstrated internal tandem duplication of the FGFR1 gene in most isolated LEAT cases (OR 11.9, 95% CI 1.32-100, p = .02), while LEAT+FCD IIIb cases were more frequently negative (OR 3.8, 95% CI 1.3-10.9, p = .02). After a median 5.7-year follow-up, 64 patients (90.1%) were seizure-free, and 55 (77.5%) discontinued ASM. Earlier seizure onset, longer epilepsy duration, and a higher number of ASM correlated with lower pre- and postoperative FS-IQ. A postoperative FS-IQ gain of >15 points occurred in four patients (7.7%). Two patients (2.8%) had unexpected permanent deficits, and 10 (14.1%) had minor temporary deficits. Epilepsy surgery leads to high rates of freedom from seizures and ASM in pediatric patients with LEAT and LEAT + FCD IIIb. Early surgical intervention can be associated with higher pre- and postoperative FS-IQ. Molecular-genetic findings suggest distinct neoplastic and dysplastic entities of LEAT and LEAT plus FCD IIIb.

Pathogenic variants in COL4A1/2 compromise vascular basement membrane integrity, causing intrauterine hemorrhage and infarction leading to extensive structural brain lesions. Vascular disruptions during critical windows of neuronal migration can result in malformations of cortical development (MCD), which may drive epileptogenicity. While surgery is established for drug-resistant focal epilepsy, COL4A1/2 patients with widespread or bilateral MRI abnormalities are frequently deemed ineligible. In selected patients, this necessitates a refined surgical rationale, shifting from strictly curative goals to "non-curative" strategies focused on seizure mitigation and functional preservation. This retrospective multicenter study analyzed six previously unpublished patients (3 COL4A1, 3 COL4A2) from three German epilepsy centers. We evaluated presurgical diagnostics (MRI, PET), surgical techniques, histopathology, and outcomes. Results were contextualized with a review of 11 previously published cases. All patients experienced daily seizures and developmental delay prior surgery. MRI revealed bilateral abnormalities in 4/6 patients (e.g., ventriculomegaly, white matter lesions). Surgical procedures included hemispherotomy (n = 4) and posterior quadrant disconnection/resection (n = 2). Mean follow-up was 5 years 11 months (range 2 years 10 months-8 years 9 months). Seizure freedom (ILAE 1) was achieved in 2/6 patients (33%), both of whom had unilateral lesions. While patients with bilateral lesions remained at ILAE 4, 83% showed postoperative developmental improvement. Histopathology confirmed cortical malformations in three patients (FCD IIId, mMCD II, GW-matter blurring), supporting the hypothesis that secondary cortical malformations, rather than macroscopic lesions, drive epileptogenicity. No surgical or neurovascular complications were observed. Epilepsy surgery is a feasible and safe treatment option for COL4A1/2-associated epilepsy. While curative in patients with unilateral lesions, bilateral cases can benefit from a "non-curative" approach focused on seizure mitigation and neurodevelopmental protection. Multimodal imaging, specifically FDG-PET, can be helpful in identifying highly epileptogenic cortical areas within widespread structural damage and serve as a basis for surgical planning.

Epilepsy is one of the most common neurological disorders worldwide and is frequently accompanied by stigma and misconceptions. Negative attitudes toward individuals with epilepsy may adversely affect social integration, access to healthcare, and quality of life. Healthcare students represent future professionals whose knowledge and attitudes may influence both patient care and stigma reduction. This study aimed to examine the relationship between epilepsy-related knowledge and attitudes among health services vocational school students and to determine whether knowledge independently predicts attitudes toward epilepsy. This cross-sectional study was conducted among students enrolled in a health services vocational school. Data were collected using a structured questionnaire including sociodemographic characteristics, an Epilepsy Knowledge Scale, and an Attitude Toward Epilepsy Scale. Multivariate regression analyses were performed to identify independent predictors of attitudes while adjusting for demographic and experiential variables. Higher levels of epilepsy-related knowledge were significantly associated with more positive attitudes toward epilepsy. In multivariate analysis, knowledge score remained the only significant independent predictor of attitudes, whereas demographic and experiential factors were not independently associated with attitudes toward epilepsy. Epilepsy-related knowledge appears to play a key role in shaping attitudes among health services vocational school students. Educational strategies aimed at improving epilepsy knowledge may contribute to reducing stigma and promoting more supportive attitudes among future healthcare professionals.

The current study aimed to investigate the clinical correlation of glioma-related epilepsy (GRE) in patients with IDH-mutant and 1p/19q-codeleted oligodendrogliomas. Data from 331 oligodendroglioma patients were retrospectively analyzed. Demographic and clinical characteristics associated with GRE were explored by groupwise comparisons. Kaplan-Meier analysis and COX analysis assessed the prognostic value of preoperative GRE for survival outcomes. Binary logistic regression was applied to explore predictors of inadequate seizure control within 1&#x2009;year, and a nomogram was constructed for risk stratification. Preoperative GRE was significantly correlated with younger age, male gender, left hemisphere tumor, and a better Karnofsky performance score (p&#x2009;<&#x2009;.05 for all). GRE showed no significant influence on overall survival or progression-free survival (p&#x2009;<&#x2009;.05 for all). Preoperative GRE was identified as the only independent risk factor for postoperative GRE within 1 year after surgery (OR 3.059, 95% CI 1.806-5.183, p&#x2009;<&#x2009;.001). The current study offered valuable insights into GRE in patients with oligodendroglioma, IDH-mutant, and 1p/19q-codeleted. Younger age, left hemisphere tumor, and a better Karnofsky performance score were associated with a higher incidence of preoperative GRE. Although preoperative GRE showed no significant prognostic value for survival outcomes, it was the sole independent risk factor for postoperative GRE within 1 year after surgery.

Temporal lobe epilepsy (TLE) accounts for 50%-70% of cases referred for epilepsy surgery. This study was designed to evaluate the distribution of the five hallmark seizure features-antecedent, aura, arrest, automatisms, and amnesia-considered collectively as the "5As," in individuals with temporal lobe epilepsy. We also analyzed the prognostic significance of 5As, if any, in predicting surgical outcome in drug-resistant TLE patients. We included 684 patients who underwent clinical evaluation, neuropsychological assessment, high-resolution MRI, and VEEG monitoring followed by standard anterior temporal lobectomy between January 2009 and December 2018. Patients were followed up at 3, 12, and 36&#x2009;months, and yearly thereafter after surgery. Outcomes were classified as "good" if patients remained seizure and aura-free, irrespective of medication, and "poor" if seizures of any type recurred post-operatively. The predictors determining the outcomes were analyzed using logistic regression, and Kaplan-Meier curves assessed the long-term seizure-free survival. A total of 8456 VEEGs were done during this time period. Of them, 1747 were focal epilepsies; TLE were 1068, and surgical management was opted in 709 of them, of whom 684 patients formed this study cohort; 93.7% exhibited behavioral arrest, 88.6% had automatisms, 86.7% experienced amnesia, 74.6% reported auras, and 63.6% had antecedents (initial precipitating injury). All the classic semiological features (5 As) were present in 37.7%. At last follow-up, 47.8% had a good outcome at a mean follow-up of 75.6&#x2009;months (maximum 14&#x2009;years). Febrile seizures were associated with better seizure outcome (p&#x2009;=&#x2009;.021). Encephalitis (p&#x2009;=&#x2009;.026) and behavioral arrest (p&#x2009;=&#x2009;.006) were associated with poor outcome. No significant association was found between the presence of aura(s), automatisms, or amnesia with post-operative outcome. A history of febrile seizures was linked to better post-operative outcomes, whereas encephalitis and behavioral arrest were associated with poorer prognosis. The presence or absence of any combination of classic features (5As) did not significantly affect the success of anterior temporal lobectomy.

The olive oil-based Mediterranean ketogenic diet (MedKD) may support patients with drug-resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet. This study assessed alterations in gut microbiota composition and short-chain fatty acids (SCFAs) in Greek pediatric epilepsy patients under a 3-month MedKD. Patients eligible for ketogenic diet therapy and one parent per patient as controls were enrolled. An olive oil-based KD aligned with Mediterranean principles was initiated during a 5-7-day hospital stay. Anthropometric, nutritional, biochemical and clinical data were recorded at baseline and after 3&#x2009;months. Fecal samples were collected from patients at both time points, and parents provided a single baseline sample. Microbiota composition was analyzed using 16S rRNA gene next-generation sequencing, and SCFAs were quantified via gas chromatography. Written informed consent was obtained from all parents. The study was registered at ClinicalTrials.gov (NCT05898438). The study enrolled 18 pediatric/adolescent patients (aged 2.5-15.5&#x2009;years) and 17 parents at baseline (T1). After 3&#x2009;months (T2), 13 patient-parent pairs completed follow-up. MedKD adherence was high, with mean ketone levels of 2.6&#x2009;mmol/L and a clinical response in 85% of patients. Anthropometric measurements improved, and lipid changes were modest. No significant &#x3b1;-diversity differences were detected between patients and parents at T1 or between T1 and T2 in patients, whereas &#x3b2;-diversity differed significantly between parents and patients at baseline. Epilepsy-associated genera were more abundant in patients. At T2, patients exhibited shifts including increased members of Eggerthellaceae and decreased Lachnospira and Bifidobacterium. Major SCFAs remained stable, with increases limited to minor protein-derived SCFAs. The MedKD was associated with high adherence, efficacy, and anthropometric improvements, along with modest effects on the lipid profile. Microbial and SCFA changes reflected both the epilepsy-related milieu and potential influences of the diet's high olive oil content.

Patients with epilepsy have increased vascular risk, and the use of antiseizure medications (ASM) seems to be a contributing factor. We aimed to analyze the differences in vascular risk profiles among epilepsy patients treated with ASM that exhibit varying interactions with the cytochrome P450 enzyme system, using surrogate sonographic markers of vascular risk. Prospective longitudinal observational study including patients with epilepsy on ongoing, stable ASM for more than 1 year and a control group. Patients were subdivided into four groups according to ASM enzyme interactions (strong inducers-group 1; weak inducers-group 2; non-inducers-group 3; and inhibitors-group 4). Clinical data, blood tests, and ultrasound studies assessing cerebral blood flow (CBF), carotid intima-media complex thickness (CA-IMT), pulsatility index (PI), and the presence of atherosclerotic carotid plaques were collected at baseline and after 1&#x2009;year. A total of 159 participants were included, comprising 126 patients with epilepsy and 33 controls. The proportion of female participants was 56.0%, the median age was 46&#x2009;years (IQR 38, 54), and 64.0% had vascular risk factors. CBF was higher in controls than in epilepsy patients at both baseline and 1-year follow-up (675 vs. 560&#x2009;mL/100gr/min in group 1, p&#x2009;<&#x2009;0.001). After 1 year, PI was higher in groups 1 and 2 than in controls (0.86 and 0.90 vs. 0.80, p&#x2009;=&#x2009;0.037). At baseline, group 1 presented a higher number of carotid plaques compared to group 3 (13 vs. 2, p&#x2009;=&#x2009;0.002). The progression of CBF, CA-IMT and PI over a 1-year period did not differ significantly between groups. Patients with epilepsy showed an overall decrease in CBF, whereas the enzyme-inducing group had a higher number of carotid plaques and higher PI, which may reflect an increased risk of macro and microvascular disease. These data emphasize the importance of comprehensive care addressing vascular risk factors in these patients.

Although verbal memory decline has been consistently reported following surgery for temporal lobe epilepsy, especially when surgery is performed in the language-dominant hemisphere and targets mesial temporal structures, the relation between the location and the hemisphere of surgery on visuospatial memory, as well as the factors predicting visuospatial memory decline, remains less clear. This study first examines the impact of epilepsy surgery location and laterality on visuospatial and verbal memory performance and then explores the predictors of memory change following surgery. We retrospectively collected data from 75 individuals who completed the Brief Visuospatial Memory Test-Revised and the Rey Auditory Verbal Learning Test as part of their pre- and post-surgical neuropsychological assessments at our center. Surgery for mesial temporal lobe epilepsy in the dominant hemisphere was associated with poorer performance on all memory outcomes, whereas mesial temporal lobe epilepsy surgery in the non-dominant hemisphere selectively impaired delayed recall of visuospatial material. A presurgical memory profile combining better visuospatial memory and poorer verbal memory, and the recurrence of seizures after surgery, best predicted visuospatial memory decline after the procedure, whereas verbal memory decline was predicted by better preoperative verbal memory performance in addition to surgery in the dominant hemisphere. These findings emphasize the relevance of considering presurgical visuospatial and verbal memory performance when attempting to predict visuospatial memory decline following surgery. Limitations to our study include potential selection bias, variability in testing parameters, and a relatively small sample size.

PRRT2 gene variations are commonly associated with paroxysmal kinesigenic dyskinesia (PKD) and epilepsy (EP). This study compares the clinical phenotypes of PKD and EP in relation to PRRT2, focusing on the association of the hotspot mutation c.649dupC (p.Arg217Profs*8). We retrospectively analyzed PRRT2 cases from our hospital (2017-2025) and reviewed literature from major databases up to 2025. Pediatric patients (&#x2264;&#x2009;18&#x2009;years) with either PKD or EP were included and categorized into sporadic and familial groups. Data on gender, onset age, and c.649dupC mutation prevalence were analyzed. In our cohort (41 patients), EP onset typically occurred in infancy (0.3-2.6&#x2009;years), while PKD onset was during school age (8-13&#x2009;years). The c.649dupC mutation rate was numerically higher in the PKD group (57%) than in the EP group (44%), but it was not statistically significant. From literature data (95 sporadic, 436 familial cases), EP was more frequent than PKD. The c.649dupC mutation rate was higher in PKD patients (77%) than in EP patients (66%) overall. This difference reached statistical significance in familial cases (84% vs. 71%, p&#x2009;<&#x2009;0.05) but not in sporadic cases. Among children with PRRT2 variations, EP is more common than PKD. The onset of EP is concentrated in early childhood, whereas PKD typically begins at school age, indicating age-dependent expression. The c.649dupC mutation shows a stronger association with the PKD phenotype in familial cases.

Drug-resistant epilepsy (DRE) affects approximately one-third of patients with epilepsy and is associated with significant morbidity and reduced quality of life. Emerging evidence suggests that vitamin D may influence neuronal excitability and neuroinflammatory pathways, potentially impacting seizure control. To systematically evaluate the effect of vitamin D supplementation and baseline vitamin D status on seizure frequency, biochemical outcomes, and quality of life in patients with drug-resistant epilepsy. PubMed, Scopus, and Web of Science were searched from inception through March 2026. Eligible studies assessed vitamin D supplementation or serum vitamin D levels in DRE patients. Eleven studies were included, with four studies (n&#x2009;=&#x2009;183) contributing to the meta-analysis of supplementation outcomes. Vitamin D supplementation was associated with a significant reduction in seizure frequency (mean difference [MD]&#x2009;=&#x2009;-8.31 seizures/month, 95% CI [-13.38, -3.25], p&#x2009;=&#x2009;.001) and a significant increase in serum vitamin D levels (MD&#x2009;=&#x2009;18.4&#x2009;nmol/L, 95% CI [4.26, 32.54], p&#x2009;=&#x2009;.01). No significant difference in baseline vitamin D levels was observed between drug-resistant and drug-responsive epilepsy (MD&#x2009;=&#x2009;.79&#x2009;nmol/L, 95% CI [-.31, 1.89], p&#x2009;=&#x2009;.16). Qualitative findings suggested potential improvements in quality of life and fatigue with long-term supplementation, although short-term effects and neuroinflammatory marker changes were inconsistent. Vitamin D supplementation is a safe adjunctive therapy that may reduce seizure frequency in drug-resistant epilepsy, though further large-scale trials are needed to confirm its efficacy and define optimal use.

To evaluate seizure control in women of reproductive age treated with valproic acid and to compare seizure outcomes between those who continued valproic acid and those who were switched to other anti-seizure medications. Data of women with epilepsy were analyzed from prospectively maintained electronic medical records between 2013 and 2022 at a tertiary epilepsy referral center. Women aged 18 to 45&#x2009;years with generalized or focal epilepsy who were well controlled on valproic acid were included. Clinical characteristics, anti-seizure medication use, seizure control during valproic acid treatment and after switching to other anti-seizure medications, adverse effects, and pregnancy-related complications were analyzed. Sixty-nine women with epilepsy who were seizure-free for at least one year on valproic acid were included. Of these, 28 had juvenile myoclonic epilepsy, 30 had other idiopathic generalized epilepsy subtypes, and 11 had focal epilepsy. Only 26 patients (37.68%) required a valproic acid dose greater than 800 milligrams per day for seizure control. Eighteen patients were switched from valproic acid to other anti-seizure medications, of whom 10 (55.55%) experienced seizure recurrence at 12-month follow-up. Among patients who continued valproic acid, teratogenicity occurred in three patients (5.88%), with a mean daily dose of 1133 milligrams. The requirement for polytherapy was higher in the switch group compared to the valproic acid continuation group (44.44% versus 11.80%). In women with epilepsy who are well controlled on low-dose valproic acid, switching to alternative anti-seizure medications is associated with a high risk of seizure recurrence and increased need for polytherapy. Decisions regarding withdrawal of valproic acid should be individualized, planned well in advance of pregnancy, and made after detailed discussion with the patient, balancing the risks of losing seizure control against potential teratogenic effects.

To evaluate the diagnostic utility and genetic spectrum of next-generation sequencing (NGS) in a large, well-phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole-exome sequencing (WES; n&#x2009;=&#x2009;104) or clinical exome sequencing (CES; n&#x2009;=&#x2009;146). Variants were interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Clinical data, including seizure semiology, neuroimaging, EEG findings, and treatment response, were retrospectively reviewed. A definitive molecular diagnosis (pathogenic or likely pathogenic variants) was established in 89 patients (89/250, 35.6%). Including variants of uncertain significance (VUS) with strong phenotypic correlation raised the diagnostic yield to 57.6% (144/250). The genetic landscape was highly heterogeneous, involving 59 distinct genes. SCN1A was the most frequently implicated gene (n&#x2009;=&#x2009;11, 12.4% of diagnosed cases), followed by MECP2 and PRRT2 (n&#x2009;=&#x2009;5 each). Notably, the recurrent PRRT2 c.649dup (p.Arg217Profs*8) frameshift variant was identified in four unrelated Turkish families. Inheritance patterns included autosomal dominant (56/89, 63%), autosomal recessive (20/89, 22%), and X-linked (13/89, 15%). Diagnostic yields were comparable between WES (38/104, 36.5%) and CES (51/146, 35%) (p&#x2009;=&#x2009;0.97). Neonatal-onset epilepsy (p&#x2009;=&#x2009;0.03) and the presence of autistic features (p&#x2009;=&#x2009;0.04) were significantly associated with a positive genetic diagnosis. Our study confirms NGS as a first-tier diagnostic tool in pediatric epilepsy, revealing a distinctive genetic architecture enriched with novel and population-specific variants. These findings emphasize (1) a high diagnostic yield (&#x223c;36%) supporting first-tier use of NGS; (2) a distinctive genetic architecture characterized by recurrent PRRT2 variants and an elevated burden of autosomal recessive disorders, likely reflecting regional consanguinity patterns; and (3) a phenotype-driven framework for prioritizing VUS re-evaluation in clinical neurology practice. Such data from underrepresented populations are crucial for global genomic databases and directly inform precision medicine and genetic counseling.

To identify clinically meaningful patterns in ictal electroclinical features of focal epilepsy using a data-driven, unsupervised learning approach, and to assess whether such patterns can localize and lateralize the epileptogenic zone (EZ) more accurately than conventional electroclinical interpretation. Ictal scalp EEG and seizure semiology were systematically extracted using the SCORE system in 116 patients with drug-resistant focal epilepsy who subsequently underwent resective surgery. Unsupervised clustering was applied separately to EEG and semiology features using k-means and agglomerative hierarchical clustering. Cluster quality was evaluated using the silhouette score, within-cluster sum of squares (WSS), between-cluster sum of squares (BSS), the ratio of between-cluster to within-cluster variance (BSS/WSS), the proportion of variance explained by clustering (BSS/TSS), and the Calinski-Harabasz index. The ability of the resulting clusters to localize and lateralize the temporal lobe EZ was assessed and compared with the conventional approach reflecting current clinical practice, based on previously published lateralizing signs, semiology localizing to the temporal lobe, and scalp EEG localization of ictal onset. Unsupervised clustering achieved strong structure for EEG and moderate for semiology data. K-means clustering of EEG features yielded a silhouette score of .63, while hierarchical clustering of semiology features achieved a silhouette score of .54. Semiology-based clusters showed substantial overlap with respect to both localization and lateralization. EEG-based clusters localized and lateralized the temporal lobe EZ with an accuracy of 65.3% (95% CI: 55.0%-74.6%). This performance was comparable to conventional electroclinical interpretation using scalp EEG ictal onset (68.1%, 95% CI: 57.5%-77.5%). Interpretation based on seizure semiology achieved an accuracy of 71.3% (95% CI: 61.0-80.1%). Unsupervised clustering of ictal electroclinical features did not outperform conventional expert interpretation in localizing or lateralizing the EZ. These findings suggest that the limitations may be inherent to the observable ictal phenomena captured by scalp EEG and semiology. Future research should focus on identifying novel or complementary biomarkers to improve precision in epilepsy surgery evaluation.

We performed a systematic review of the ictal semiology associated with middle and posterior cingulate seizures in focal epilepsy. Our aim was to summarize the current state-of-the-art anatomo-clinical correlations and provide guidance for interpreting ictal semiology within the context of pre-surgical evaluation. We conducted a literature review following PRISMA guidelines using predefined search terms. Eligible studies included original clinical cohort studies and case series with three or more patients who underwent surgical treatment and pre-surgical evaluation for middle cingulate cortex (MCC) and posterior cingulate cortex (PCC) epilepsies, utilizing Video-EEG and/or invasive stereo EEG (SEEG). Only cases with high confidence in the seizure onset zone (SOZ), either through histology or invasive EEG, were included in this meta-analysis. Five clinical studies involving 57 patients with MCC and PCC epilepsies met the inclusion criteria. Observed seizure semiology for both groups included tonic and dystonic movements, vocalizations, automatisms, and autonomic symptoms. The studies also identified distinct patterns of semiology between MCC and PCC: MCC epilepsies were associated with hyperkinetic and tonic seizures, often accompanied by emotional symptoms, forming a continuum with anterior cingulate epilepsies. In contrast, PCC epilepsies exhibited more discrete motor symptoms and frequently presented with auras and automatisms reminiscent of mesial temporal lobe epilepsies. Studies utilizing SEEG analyses revealed distinct ictal spread patterns when comparing MCC and PCC epilepsies, suggesting that semiology in MCC and PCC epilepsies is defined more by ictal spread than by the seizure onset zone itself. This study identified semiologic patterns commonly associated with MCC and PCC epilepsies, which help distinguish these epilepsy subgroups from each other and from other focal epilepsies. In cases of epilepsy presenting with temporomesial semiology but lacking a corresponding lesion on cerebral imaging, a PCC epilepsy should be considered.

Temporal lobe epilepsy (TLE) is the most common focal epilepsy, yet the genetic mechanisms underlying its development remain incompletely understood. The sodium channel gene SCN1A, known to be involved in several epilepsy syndromes including Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+), has recently been investigated for its potential role in TLE. This systematic review aimed to synthesize evidence on the role of SCN1A variants in the pathogenesis, clinical features, and treatment outcomes of TLE. A comprehensive literature search of PubMed, Scopus, Web of Science, and the Cochrane Library was conducted up to September 2024. Twenty-six eligible studies, including clinical, molecular, and preclinical investigations, were analyzed to assess associations between SCN1A mutations or polymorphisms and TLE phenotypes, with particular focus on genetic, electrophysiological, and therapeutic findings. Clinical studies reported both common polymorphisms (rs3812718, rs7587026) and rare familial variants (M145T, K1270T) in patients with mesial TLE with hippocampal sclerosis (MTLE-HS) and drug resistance. Transcriptomic and electrophysiological analyses of resected hippocampal tissue suggested altered SCN1A expression and possible interneuron dysfunction. Experimental models further indicated that SCN1A dysregulation may influence hippocampal excitability and seizure thresholds, while sodium channel modulators such as carbamazepine were reported to normalize aberrant expression patterns and reduce epileptiform activity. Current evidence suggests that SCN1A may act as a genetic modifier contributing to TLE susceptibility, pharmacoresistance, and clinical heterogeneity in certain contexts. Integration of genetic and molecular data may support improved phenotypic characterization and individualized management in selected patients. However, larger and well-designed studies incorporating multi-omics and longitudinal data are required to clarify the mechanistic and clinical relevance of SCN1A in TLE.

Balancing seizure outcomes and cognitive deficits is always a challenge in both mesial and neocortical temporal lobe epilepsy cohorts. The present study evaluated the long-term seizure outcomes and perceived quality of life (QOL) in both of these groups, along with factors predictive of these outcomes. A retrospective analysis of patients undergoing temporal lobe epilepsy (TLE) surgery from 2015 to 2023, with at least 1&#x2009;year of follow-up (N&#x2009;=&#x2009;175), is presented. Patients were grouped as MTLE (mesial temporal sclerosis only) and NTLE (neocortical) based on neuroimaging. Surgical approaches included standard anterior temporal lobectomy with amygdalohippocampectomy (ATL&#x2009;+&#x2009;AH) and hippocampal-sparing resections. Seizure outcomes were classified using Engel's scale; QOL was assessed telephonically using a questionnaire adopted from QOLIE-10-P. Predictors for seizure freedom and perceived QOL outcomes were studied in both groups. At a mean follow-up of 55&#x2009;months, 83.5% of patients achieved seizure freedom, MTLE (85%), and NTLE (81%) patients. Of the entire TLE cohort, 38% were free from drugs at the last follow-up. In MTLE, the presence of red flags significantly lowers the chances of complete seizure freedom (59% vs. 93%.) (OR 0.11, 95% CI 0.03-0.37; p&#x2009;<&#x2009;0.001). Preserving the hippocampus in NTLE is associated with a lower the seizure freedom rate (68% vs. 86%) (OR 0.34, 95% CI 0.10-1.08). In NTLE, the odds of perceived memory decline were marginally higher in the standard ATL&#x2009;+&#x2009;AH group (OR 1.48, 95% CI 0.37-5.87) compared to hippocampus-preserving resection (p&#x2009;=&#x2009;0.7). Approx. 75% patients reported improvement in all QOL parameters in the entire TLE cohort. No mortality or permanent neurological deficits recorded. TLE surgery provides robust seizure control and significant perceived QOL improvements for most patients in the long term. Hippocampal sparing surgery in NTLE did not seem to affect perceived memory difficulties but was more likely to be associated with suboptimal seizure outcomes.

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