Epilepsy Research最新文献

Background: Epilepsy surgery is the most effective treatment for patients with drug-resistant epilepsy (DRE), yet remains critically underutilized. Physician perceptions and knowledge gaps are amongst the most consistently reported barriers to timely referral, with limited reports in low- and middle-income countries (LMICs). This study aimed to assess knowledge and perceptions regarding DRE and epilepsy surgery among Mexican physicians.

Methods: A 24-item survey was distributed nationally between August and November 2024. Eligible respondents were practicing general practitioners (GPs), neurologists, or neurosurgeons in Mexico. Items evaluated demographics, clinical experience with epilepsy, perceptions of surgery, and knowledge of International League Against Epilepsy (ILAE) recommendations. Intergroup comparisons were performed using chi-square and logistic regression analyses.

Results: Responses were obtained from 211 physicians across 27 states, including 140 GPs (66.4 %), 40 neurologists (19.0 %), and 31 neurosurgeons (14.6 %). Only 72 physicians (34.1 %) correctly identified the ILAE definition of DRE, including 55 % of neurologists (significant differences between groups p = 0.008). While 180 participants (85.3 %) recognized epilepsy surgery as a treatment option, only 107 (50.7 %) agreed that all DRE patients should be referred for surgical evaluation. Awareness of existing referral centers was low (n = 60, 28.4 %). Most respondents recognized EEG (n = 184, 87.2 %), and MRI (n = 125/211 59.2 %) as essential for initial evaluation. Notably, 82 physicians (38.9 %) perceived epilepsy surgery as a high-risk, last-resort option. Overall, neurologists had the highest knowledge of epilepsy.

Conclusion: Mexican physicians had significant knowledge gaps and referral barriers to epilepsy surgery in Mexico, including limited familiarity with DRE criteria, limited understanding of surgical outcomes, and low awareness of existing referral pathways. Addressing these gaps through targeted medical education and improved visibility of epilepsy care infrastructure is essential to improve outcomes for DRE patients in Mexico and other LMICs.

Background: Post-traumatic epilepsy (PTE) is a common complication of traumatic brain injury (TBI). Studies have indicated that functional abnormalities of the sodium-activated potassium (K_Na) channels are closely related to infantile "refractory epilepsy". However, whether and how the K_Na channels are involved in the occurrence of PTE remains unknown.

Methods: We used adult male C57BL/6 J mice to establish a controlled cortical impact (CCI) mice model with different severity levels. We implanted intracranial electrodes 7 days after injury to observe the spontaneous seizures in the moderately injured mice.vEEG was continuously recorded for 7 days (24 h/day). Then, a multi - electrode array (MEA) was performed 14 days after TBI to evaluate the network activity in the peripheral cortex of TBI lesions.Seven days after injury, we detected the expression of K_Na channels around the injury site and the activation of glial cells through immunofluorescence staining. Finally, primary neuron cultures were used to verify whether or not the inflammatory factor upregulated K_Na channels and affected neuronal excitability by activating the NF-κB pathway.

Results: Through continuous vEEG monitoring, we observed abnormal electrographic discharges in the moderate TBI group (9 %, 2/22). MEA recording confirmed hyperactive network around the lesion, supporting that peripheral cortex may be the potential epileptogenic focus. Our findings revealed that expression of K_Na channels was elevated in neuronal membranes in the peripheral cortex. Reactive astrocytes and activated microglia were observed in the injured ipsilateral cortex of the moderate and severe TBI mice. In primary neurons, we found that K_Na currents were markedly increased after TNF-α stimulation. When the NF-κB signaling pathway was inhibited by SN50, the K_Na currents were correspondingly decreased.

Conclusions: Our results suggest that network hyperactivity in the perilesional neocortex may be the origin of abnormal epileptiform discharge. Activation of glial cells around the lesion releases inflammatory factors that initiate the NF-κB signaling pathway and modulate the K_Na channels, which may be a potential mechanism for the occurrence of PTE. This research had important implications for clarifying the origin of epileptic foci of TBI and identifying immune-based biomarkers to improve the prognosis of PTE.

Objective: This study aimed to examine the relationship between psychological resilience and self-esteem among healthy adolescents who have siblings diagnosed with epilepsy.

Methods: This descriptive and cross-sectional study was conducted between May and November 2024 at Muş State Hospital. The sample consisted of 126 healthy adolescents aged 12-18 years who had siblings diagnosed with epilepsy and were receiving follow-up care at the pediatric neurology outpatient clinic. Data were collected using a Personal Information Form, the Rosenberg Self-Esteem Scale (RSES), and the Child and Youth Resilience Measure (CYRM).

Results: The mean CYRM score was 41.32 ± 9.87, indicating moderate psychological resilience, and the mean RSES score was 2.11 ± 1.75, indicating moderate self-esteem. Psychological resilience scores were significantly higher among girls and adolescents from higher-income families, as well as those whose parents had higher educational levels and professional occupations. Self-esteem levels were higher among adolescents whose parents were university graduates or civil servants and lower among those from low-income families. Emotional responses during siblings' seizures were also associated with both outcomes; adolescents reporting compassion or sadness demonstrated higher psychological resilience and self-esteem than those reporting pity. A moderate negative correlation was found between CYRM and RSES scores, reflecting the inverse scoring structure of the RSES, in which lower scores indicate higher self-esteem.

Conclusion: Adolescents who have siblings with epilepsy exhibit moderate levels of psychological resilience and self-esteem compared with normative adolescent samples. Sociodemographic characteristics and emotional responses to seizures play an important role in shaping these outcomes, highlighting the need for psychosocial support strategies to strengthen resilience and self-esteem.

Objective: History of hypertension is a common comorbidity among patients with epilepsy, yet its role in acute seizure outcomes remains unclear. This study investigated whether history of hypertension and routine hematologic markers could predict intensive care unit (ICU) admission among patients with seizures presenting to the emergency room (ER).

Methods: Ninety patients with confirmed seizures were retrospectively analysed. Demographic characteristics, comorbidities, and laboratory findings were compared between patients admitted to the ICU and those who were not. Multivariate logistic regression analysis identified independent predictors of ICU admission. In addition, all 20 ICU-admitted cases during the study period were further examined to characterize their clinical patterns.

Results: Twenty patients (22.2 %) required direct ICU admission. History of hypertension was more frequent in the ICU group (45.0 % vs. 17.1 %, p = 0.009) and independently predicted ICU admission (OR 4.07, 95 % CI 1.05-15.80, p = 0.042). Elevated white blood cell counts (OR 1.27, 95 % CI 1.10-1.48, p = 0.002) and reduced red blood cell counts (OR 0.17, 95 % CI 0.05-0.59, p = 0.006) were also significant predictors.

Conclusion: History of hypertension, leukocytosis, and anemia may indicate a higher risk of clinical deterioration in patients with seizures. These routinely available measures could assist early triage and management decisions in the ER. Prospective studies are warranted to confirm their prognostic utility.

Background: CHD2-related disorders (CHD2-RDs) are ultra-rare neurodevelopmental conditions caused by pathogenic variants in the CHD2 gene, which plays a crucial role in chromatin remodeling during brain development. These disorders present with a complex phenotype that includes refractory epilepsy, intellectual disability, autism spectrum disorder, speech and motor delays, and behavioral challenges. Despite emerging clinical descriptions, limited research has captured the lived experience of affected families or organized this complexity into a patient-centered disease model.

Methods: To develop a conceptual disease model (CDM) for CHD2-RDs, we conducted a systematic literature review alongside in-depth qualitative interviews with 15 caregivers of individuals with CHD2. Thematic saturation was reached, and findings were analyzed using inductive and deductive coding. Reflexive and AI-supported analytic techniques were employed to ensure trustworthiness. Caregiver quotes were integrated to illustrate how symptoms translate into real-world impact.

Results: The resulting CDM identifies three core domains: patient symptoms, patient impacts, and caregiver impacts. Symptom domains include seizures, cognitive impairment, communication difficulties, behavioral issues, sensory sensitivities, motor delays, and other comorbidities (e.g., GI, endocrine, vision). These symptoms disrupt sleep, development, socialization, and autonomy. Caregivers reported sleep loss, mental health strain, career disruption, and social isolation. Emergent themes, such as reliance on routine, diagnostic odyssey, and fears about the future, further contextualize the burden of CHD2-RDs.

Conclusion: This is the first caregiver-informed CDM for CHD2-RDs and provides a foundational tool for future research, clinical care, and regulatory engagement. It can inform the development of meaningful outcome measures, trial readiness, and patient-centered endpoints. The model highlights the need for integrated support and underscores the critical role of caregiver insight in understanding and addressing rare neurodevelopmental disorders.