Epileptic Disorders最新文献

Objective: We performed a systematic review of the ictal semiology of the lateral temporal lobe in focal epilepsy aiming to summarize the state-of-the-art anatomo-clinical correlations in the field and help guide interpretation of ictal semiology within the framework of pre-surgical evaluation.

Methods: After preregistration of the study protocol (PROSPERO-ID CRD42024498889), we used the PRISMA-based approach and systematically searched PubMed and EMBASE for relevant literature on the semiology of lateral temporal lobe epilepsy (TLE). A random-effects meta-analysis with the inverse variance method was used to calculate pooled estimates.

Results: Six studies with 94 patients fulfilled our inclusion criteria. All studies also included patients with TLE confined to other neocortical temporal structures without performing analyses specifically on lateral temporal structures. The most common signs comprised oral automatisms, manual automatisms, and behavioral arrests; however, these likely do not manifest at seizure onset but during propagation. Overall, GRADE evaluation indicated very low evidence for any signs or symptoms being associated with anatomic localization. We performed a meta-analysis of the diagnostic accuracy of the presence or absence of relevant ictal signs and symptoms for differentiating seizures in lateral versus mesial TLE. The presence of auditory auras was highly specific for lateral TLE (.98 [95% CI .88-1.00]) with an overall sensitivity of .06 [95% CI .02-.22]. Lack of epigastric or olfactory/gustatory aura was associated with a high sensitivity for differentiating lateral from mesial TLE (.93 [95% CI .80-.98] and .96 [95% CI .84-.99], respectively); specificity was .38 [95% CI .26-.51] for lack of epigastric aura and .13 [95% CI .06-.25] for lack of olfactory/gustatory aura.

Significance: The six studies included in this systematic review defined the boundaries of the lateral temporal lobe quite heterogeneously and only about two-thirds of patients unambiguously had lateral temporal lobe epilepsy likely explaining the wide spectrum of ictal semiologies. Furthermore, there is often no differentiation into seizure onset versus propagation. Auditory auras represent the only specific semiology for lateral TLE, though this symptom occurs in less than every 10th patient. Comparing lateral versus mesial temporal lobe epilepsy, the presence of epigastric auras and even more so of olfactory/gustatory auras indicates mesial rather than lateral seizure onset.

Objective: Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare metabolic encephalopathy caused by pathogenic SLC2A1 variants. Ketogenic dietary therapy (KDT) is the mainstay of treatment. In Latin America, Glut1DS remains underdiagnosed due to limited awareness and restricted access to genetic testing. This study describes the clinical and genetic features, management, and response to KDT in an Argentine cohort.

Methods: A retrospective multicenter study was conducted including patients with a clinical and/or genetic diagnosis of Glut1DS. Clinical data, seizure types, neurodevelopmental features, treatment response, and KDT characteristics were collected from medical records using a standardized form. Genetic confirmation was obtained by SLC2A1 sequencing. Descriptive and comparative analyses were performed.

Results: Thirty-nine patients with Glut1DS (64% males) were included. Mean age at evaluation was 13.7 years. Median ages at symptom onset and diagnosis were 6 and 55 months, respectively, with a median diagnostic delay of 49 months. Cognitive impairment was present in two-thirds of patients, and movement disorders in 79%. Epilepsy occurred in 74%. Of 39 patients, all but one received KDT, with MCT oil in 64%. Thirty patients remained on KDT, achieving seizure freedom in 86% and >50% reduction in four others. Improvements were reported in motor coordination (38%), cognition and attention (10%), energy (10%), and behavior (8%). No major adverse effects were reported.

Significance: This first national report underscores the clinical diversity of Glut1DS in Argentina and a positive trend toward earlier KDT initiation. Strengthening early diagnosis, systematic follow-up, and equitable access to therapy remains essential.

Background: People with epilepsy have diverse healthcare needs, but limited resources make tailored management challenging. To allocate resources where they are most urgently required, we developed an openly available needs-based follow-up model. This system adjusts follow-up frequency based on patients' symptoms, side effects, and other information reported digitally. Our study aimed to compare patient satisfaction with the needs-based model versus standard of care (SOC).

Method: We sent a digital survey to all epilepsy patients at three different Norwegian hospitals. Satisfaction was rated from one ("Not at all") to five ("To a very great extent"). Patients were categorized into three groups: (1) active needs-based follow-up, (2) selected for needs-based follow-up, but no active participation (offered needs-based follow-up but declined or did not fill in any forms yet), and (3) SOC follow-up. We used Pearson's chi-squared test to compare the three groups, with p-values < .05 as significant.

Results: Of 2190 patients, 748 (34%) responded. Group 1 (n = 170) reported better satisfaction than Group 3 (n = 500) in all areas including meeting care needs (p < .001), communication and trust (both p < .001), information needs being met (p < .001), and personalized treatment (p < .001). Compared to Group 2 (n = 78), Group 1 also showed higher satisfaction, particularly with diagnostic information, involvement in follow-up, and accessibility of healthcare providers.

Conclusion: Patients with needs-based follow-up were more satisfied with their epilepsy care than those with SOC follow-up. Results were consistent also when accounting for potential selection bias to the follow-up model.

Aims: Accurate classification of epileptic seizures and epilepsy is essential for diagnosis, treatment, and research. This study evaluated inter-rater agreement in seizure and epilepsy diagnosis and classification using standardized clinical vignettes.

Methods: Thirty-seven anonymized vignettes, based on adult cases from Merano Hospital (2010-2022), were independently assessed by four epileptologists from different Italian centers. Structured questions covered seizure diagnosis, categorization (acute symptomatic vs. unprovoked), seizure onset, epilepsy diagnosis (ILAE 2014), syndrome identification, etiology, and classification according to the 2017 ILAE basic and expanded systems. Inter-rater agreement was measured with Fleiss' κ and Gwet's AC1; only perfectly matching responses were considered concordant. Bootstrap resampling (1000 iterations) provided 95% confidence intervals.

Results: Agreement was almost perfect for seizure diagnosis (κ = .94, AC1 = .99), epilepsy diagnosis (κ = .96, AC1 = .97), seizure categorization (κ = .86, AC1 = .90), seizure onset (κ = .83, AC1 = .93), and etiology (κ = .84, AC1 = .92). Syndrome identification showed high agreement (κ = .82, AC1 = .97). The ILAE 2017 basic system yielded substantial reliability (κ = .72, AC1 = .82), whereas the expanded version showed lower consistency (κ = .65, AC1 = .77).

Significance: This preliminary study, although based on adult emergency cases in one country and rated by only 4 specialists, demonstrates high inter-rater agreement supporting the reliability of current ILAE frameworks. Lower concordance in detailed classifications highlights interpretive variability and the need for refinement. The forthcoming 2025 ILAE updates may improve consistency and diagnostic precision in epilepsy care and research.

Background: Developmental/Epileptic encephalopathy with spike and wave activation in sleep (DEE-SWAS) comprises a spectrum of childhood-onset epilepsies, characterized by near-continuous spike-wave discharges during non-REM sleep which can result in cognitive, behavioral, and motor regression. Negative myoclonic status in the context of DEE-SWAS is extremely rare, and management is difficult as conventional anti-seizure medications (ASM) and immunomodulatory therapies often show limited efficacy. Adrenocorticotropic hormone (ACTH), classically used for infantile spasms, has recently been reported as a potential therapy for refractory DEE-SWAS.

Case presentation: We report a 7-year-old girl with prior developmental encephalopathy, who experienced recurrent unprovoked seizures from 5 years of age, followed by progressive ataxia and language regression. Clinical examination revealed facial dysmorphism, truncal and gait ataxia, oral apraxia with atonic head drops. Video EEG revealed background slowing with bilateral centro-parieto-temporal spikes markedly activated in sleep, with clusters of atonic neck and truncal drop seizures suggestive of negative myoclonic status leading to 'pseudo-ataxia'. Despite treatment with multiple ASM, intravenous methylprednisolone and immunoglobulin, there was worsening encephalopathy and anterior opercular syndrome. Given therapeutic refractoriness, ACTH was initiated. The patient showed dramatic improvement: resolution of status, a marked reduction in EEG spike-wave burden, recovery of gait and language to baseline, and restoration of social interaction.

Conclusion: This case demonstrates for the first time the potential of ACTH in refractory DEE-SWAS with negative myoclonic status epilepticus, wherein conventional immunomodulation fails. The sustained clinical and electrographic improvement highlights the broader neuro-modulatory mechanisms of ACTH and supports its consideration in treatment algorithms. Larger prospective studies are warranted to compare the efficacy and safety profile of various corticosteroids in DEE.

Objective: To measure the relative levels of signal and noise in expert diagnosis of epilepsy.

Methods: Twenty multinational epileptologists independently reviewed 50 vignettes of adult and pediatric patients presenting with suspected seizure(s) on two separate occasions with a ≥30-day washout period. Experts provided a diagnosis of epilepsy or non-epilepsy based on clinical information and, if requested, routine EEG and neuroimaging data. Cases had an established clinical diagnosis of epilepsy or non-epilepsy based on capture of habitual paroxysmal events on video-EEG or long-term clinical follow-up. Experts' judgments were analyzed to decompose variability into different sources: signal (objective differences between cases), level noise (experts' bias toward over/under-diagnosis), pattern noise (experts' idiosyncratic reactions to specific case features), and occasion noise (inconsistency across occasions).

Results: The probability of an expert making a different diagnosis for a given case on two different occasions was 16%. The probability of two different experts making a different diagnosis for the same case was 26%. Signal (case "difficulty") accounted for 66-69% of total variation, with 31-34% attributable to noise. Level noise was the largest contributor in the absence of EEG/neuroimaging results (23%), while pattern noise dominated when test results were available (24%). Occasion noise contributed relatively little (1%) but was still sufficient to cause diagnostic reversals in 16-22% between occasions.

Significance: The degree of noise in expert diagnosis of epilepsy is substantial, stemming primarily from physicians' idiosyncratic interpretations of case features and variable dispositions toward over- or under-diagnosis. Strategies to improve reliability are needed, including standardized data collection protocols and structured decision algorithms. For "difficult cases," where expert reliability and accuracy are lowest, our findings support current clinical practice which favors early referral for video-EEG monitoring over reliance on diagnostic anchoring. This diagnostic pathway may become more accessible with advances in EEG technology (e.g., wearable devices) and artificial intelligence.