Objective To investigate the cranial magnetic resonance imaging （MRI） features of patients with hepatolenticular degeneration （also known as Wilson disease，WD） and epilepsy， and to identify the neuroimaging risk factors for seizures in WD patients. Methods A total of 69 WD patients with epilepsy who were hospitalized in Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， from January 2018 to November 2025 were enrolled as study group， while 80 WD patients without seizures， matched for sex and age， during the same period of time were randomly selected as control group. Cranial MRI findings were compared between the two groups. Results There were 69 WD patients （43 male patients and 26 female patients） in the study group， with a mean age of （29.46±8.58） years at the time of attending the hospital， and all these patients had abnormal electroencephalogram （EEG） findings. There were no significant differences between the two groups in age of onset，disease duration， WD subtype， and serum copper. Cranial MRI showed that the putamen was the most common site of brain injury （47 patients， 68.1%）， followed by the frontal lobe （40 patients，58.0%） and the parietal lobe （31 patients，44.9%）， and there was a significantly higher probability of epilepsy in patients with abnormal lesions in the frontal， temporal， or parietal lobes （P<0.05）. Conclusion While the putamen is the most common site of brain injury in WD patients with epilepsy， frontal or temporal lobe injuries are neuroimaging risk factors for seizures in such patients.
Epilepsy, Frontal Lobe ; Putamen

OBJECTIVE: To analyze the disease patterns and acupoint selection characteristics of acupuncture for epilepsy in ancient acupuncture texts, providing references and ideas for clinical acupuncture treatment of epilepsy. METHODS: Texts from the Chinese Medical Classics (5th edition) regarding acupuncture for epilepsy are reviewed. The frequency of acupoints, meridian association, distribution, specific points, corresponding epilepsy subtypes, and needling techniques are statistically analyzed. The Apriori algorithm is used for association rule analysis, and a complex network analysis is conducted for high-frequency acupoints and their corresponding subtypes and treatments. RESULTS: A total of 205 acupuncture prescriptions are identified. Ancient texts favored differentiation-based treatments for epilepsy, primarily classified into epilepsy, wind epilepsy, and five epilepsy. Commonly used acupoints include Baihui (GV20), Jiuwei (CV15), Shenmen (HT7), Shenting (GV24), and Xinshu (BL15), with a focus on the acupoints of the governor vessel, the bladder meridian, and the conception vessel. The acupoints on the head, face are combined with the acupoints on the limbs, with skillful use of the five-shu points and intersection acupoints. The most frequent combinations are Shenmen (HT7)-Baihui (GV20), Shenting (GV24)-Baihui (GV20), and Xinshu (BL15)-Shenmen (HT7). Visual network analysis revealed that Baihui (GV20)-Shenting (GV24), Baihui (GV20)-Shenmen (HT7), and Baihui (GV20)-Zhaohai (KI6) are core acupoint combinations. Treatment mainly involved moxibustion or combined acupuncture and moxibustion. CONCLUSION The acupoint selection for epilepsy treatment in ancient texts is precise, frequently using Baihui (GV20), Jiuwei (CV15), Shenmen (HT7), Shenting (GV24), and Xinshu (BL15), etc., with emphasis on calming epilepsy, awakening the spirit, relaxing tendons, and nourishing the heart.
Acupuncture Points ; Humans ; Epilepsy/history* ; History, Ancient ; Acupuncture Therapy/history* ; Medicine in Literature/history* ; Meridians ; China

BACKGROUND: To evaluate the efficacy and safety of the first cohort of people in China treated with a responsive neurostimulation system (Epilcure TM , GenLight MedTech, Hangzhou, China) for focal drug-resistant epilepsy in this study. METHODS: This multicenter, before-and-after self-controlled study was conducted across 8 centers from March 2022 to June 2023, involving patients with drug-resistant epilepsy who were undergoing responsive neurostimulation (RNS). The study was based on an ongoing multi-center, single-blind, randomized controlled study. Efficacy was assessed through metrics including median seizure count, seizure frequency reduction (SFR), and response rate. Multivariable linear regression analysis was conducted to explore the relationships of basic clinical factors and intracranial electrophysiological characteristics with SFR. The postoperative quality of life, cognitive function, depression, and anxiety were evaluated as well. RESULTS: The follow-up period for the 19 participants was 10.7 ± 3.4 months. Seizure counts decreased significantly 6 months after device activation, with median SFR of 48% at the 6th month (M6) and 58% at M12 ( P  <0.05). The average response rate after 13 months of treatment was 42%, with 21% ( n  = 4) of the participants achieving seizure freedom. Patients who have previously undergone resective surgery appear to achieve better therapeutic outcomes at M11, M12 and M13 ( β  <0, P  <0.05). No statistically significant differences were observed in patients' scores of quality of life, cognition, depression and anxiety following stimulation when compared to baseline measurements. No serious adverse events related to the devices were observed. CONCLUSIONS: The preliminary findings suggest that Epilcure TM exhibits promising therapeutic potential in reducing the frequency of epileptic seizures. However, to further validate its efficacy, larger-scale randomized controlled trials are required. REGISTRATION Chinese Clinical Trial Registry (No. ChiCTR2200055247).
Humans ; Female ; Male ; Drug Resistant Epilepsy/therapy* ; Adult ; Young Adult ; Middle Aged ; China ; Adolescent ; Treatment Outcome ; Quality of Life ; Single-Blind Method ; Seizures ; Electric Stimulation Therapy/methods*

The zebrafish model has attracted much attention due to its strong reproductive ability, short research cycle, and ease of maintenance. It has always been an important vertebrate model system, often used to carry out human disease research. Its motor behavior features have the advantages of being simpler, more intuitive, and quantifiable. In recent years, it has received widespread attention in the study of traditional Chinese medicine(TCM)for the treatment of sleep disorders, neurodegenerative diseases, fatigue, epilepsy, and other diseases. This paper reviews the characteristics of zebrafish motor behavior and its applications in the pharmacodynamic verification and mechanism research of TCM extracts, active ingredients, and TCM compounds, as well as in active ingredient screening and safety evaluation. The paper also analyzes its advantages and disadvantages, with the aim of improving the breadth and depth of zebrafish and its motor behavior applications in the field of TCM research.
Zebrafish/physiology* ; Medicine, Chinese Traditional ; Drugs, Chinese Herbal/therapeutic use* ; Disease Models, Animal ; Drug Evaluation, Preclinical/methods* ; Animals ; Sleep Wake Disorders/physiopathology* ; Epilepsy/physiopathology* ; Neurodegenerative Diseases/physiopathology* ; Fatigue/physiopathology* ; Behavior, Animal/physiology* ; Motor Activity/physiology*

OBJECTIVE: To identify the optimal machine learning algorithm for predicting post-stroke epilepsy (PSE) within one year following acute stroke, establish a nomogram model based on this algorithm, and perform external validation to achieve accurate prediction of secondary epilepsy. METHODS: A total of 870 acute stroke patients admitted to the emergency department of Xiang'an Hospital of Xiamen University from June 2019 to June 2023 were enrolled for model development (model group). An external validation cohort of 435 acute stroke patients admitted to the Fifth Hospital of Xiamen during the same period was used to validate the machine learning algorithms and nomogram model. Patients were classified into control and epilepsy groups based on the development of PSE within one year. Clinical and laboratory data, including baseline characteristics, stroke location, vascular status, complications, hematologic parameters, and National Institutes of Health Stroke Scale (NIHSS) score, were collected for analysis. Nine machine learning algorithms such as logistic regression, CN2 rule induction, K-nearest neighbors, adaptive boosting, random forest, gradient boosting, support vector machine, naive Bayes, and neural network were applied to evaluate predictive performance. The area under the curve (AUC) of receiver operator characteristic curve (ROC curve) was used to identify the optimal algorithm. Logistic regression was used to screen risk factors for PSE, and the top 10 predictors were selected to construct the nomogram model. The predictive performance of the model was evaluated using the ROC curve in both the model and validation groups. RESULTS: Among the 870 patients in the model group, 29 developed PSE within one year. Among the nine algorithms tested, logistic regression demonstrated the best performance and generalizability, with an AUC of 0.923. Univariate logistic regression identified several risk factors for PSE, including platelet count, white blood cell count, red blood cell count, glycated hemoglobin (HbA1c), C-reactive protein (CRP), triglycerides, high-density lipoprotein (HDL), aspartate aminotransferase (AST), alanine aminotransferase (ALT), activated partial thromboplastin time (APTT), thrombin time, D-dimer, fibrinogen, creatine kinase (CK), creatine kinase-MB (CK-MB), lactate dehydrogenase (LDH), serum sodium, lactic acid, anion gap, NIHSS score, brain herniation, periventricular stroke, and carotid artery plaque. Further multivariate logistic regression analysis showed that white blood cell count, HDL, fibrinogen, lactic acid and brain herniation were independent risk factors [odds ratio (OR) were 1.837, 198.039, 47.025, 11.559, 70.722, respectively, all P < 0.05]. In the external validation group, univariate logistic regression analysis showed that platelet count, white blood cell count, CRP, triacylglycerol, APTT, D-dimer, fibrinogen, CK, CK-MB, LDH, NIHSS score, and cerebral herniation were risk factors for PSE one year after acute stroke. Further multiple logistic regression analysis showed that APTT and cerebral herniation were independent predictors (OR were 0.587 and 116.193, respectively, both P < 0.05). The nomogram model, constructed using 10 key variables-brain herniation, periventricular stroke, carotid artery plaque, white blood cell count, triglycerides, thrombin time, D-dimer, serum sodium, lactic acid, and NIHSS score-achieved an AUC of 0.908 in the model group and 0.864 in the external validation group. CONCLUSIONS The logistic regression-based prediction model for epilepsy one year after acute stroke, developed using machine learning algorithms, showed optimal predictive performance. The nomogram model based on the logistic regression-derived predictors showed strong discriminative power and was successfully validated externally, suggesting favorable clinical applicability and generalizability.
Humans ; Machine Learning ; Stroke/complications* ; Nomograms ; Epilepsy/etiology* ; Algorithms ; Male ; Female ; Logistic Models ; Middle Aged ; Aged ; Risk Factors ; Bayes Theorem

Psychogenic non-epileptic seizures are accompanied by motor,behavioral,sensory,and/or cognitive changes,with the clinical manifestations similar to epileptic seizures.This disease is easy to be misdiagnosed and neglected in clinical work.At present,most intervention measures still depend on the experience of clinicians.This article reviews the comorbidities of psychogenic non-epileptic seizures,including mental and cognitive disorders,somatic syndrome,sleep disorders,and epilepsy.This review aims to strengthen the precision of clinical treatment and management of patients with psychogenic non-epileptic seizures and provide more efficient individualized diagnosis and treatment programs for patients.
Humans ; Seizures/diagnosis* ; Comorbidity ; Epilepsy ; Sleep Wake Disorders ; Mental Disorders ; Psychophysiologic Disorders ; Cognition Disorders

OBJECTIVES: This study aims to describe the clinical characteristics, treatment received and outcome of patients diagnosed with HLH at the Philippine Children’s Medical Center from 2004 to 2017.

MATERIALS AND METHODS: This cross-sectional analytical study was conducted from June 10, 2023 to June 1, 2024 at the Philippine Children's Medical Center. Detailed information was obtained for each case according to protocol. A complete history was taken from the accompanying caretakers. Children aged 0 to 7 years and 11 months, recently diagnosed with focal epilepsy, were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5-TR) criteria. The level of early child development was determined based on the total Battelle Developmental Inventory-2 developmental quotient score.

RESULTS: The study examined 246 children with focal epilepsy. Significant findings included those children with NDD had a higher median age (4.67 years) compared to those without NDD (3.37 years) (p < .001). A higher proportion of non-NDD children were under one year old. Children without NDD had mothers with higher educational attainment (p = .015) and came from families with higher incomes (p = .003). Neonatal complications such as hypoxic-ischemic encephalopathy (HIE) and sepsis were more common in children with NDD (p = .005 and p = .006). Phenobarbital use was more frequent in children with NDD (p = .001), who also had more abnormal EEG and neuroimaging findings (p < .001). Neurodevelopmental evaluations were conducted later for children with NDD (p < .001). A significant number (75.20%) of children exhibited neurodevelopmental problems, with global developmental delay being most prevalent. Crude analysis showed associations between age, number of antiseizure medications, and delays in evaluation with increased odds of NDD.

CONCLUSIONS: The study offers insights into children with focal epilepsy at a tertiary hospital in the Philippines, emphasizing the impact of low socioeconomic status, age, birth complications and multiple anti-seizure medications. These findings are vital for clinicians to modify care plans through a multidisciplinary approach to enhance outcomes and improve quality of life in this high-risk population.

Human ; Male ; Female ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Neurodevelopmental Disorders ; Sepsis ; Hypoxia-ischemia, Brain ; Epilepsies, Partial ; Educational Status ; Diagnostic And Statistical Manual Of Mental Disorders ; Child Development

OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Christianson syndrome (CS). METHODS: A 1-year-and-5-month-old boy with CS diagnosed at the First Affiliated Hospital of Zhengzhou University in April 2021 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral blood samples were obtained from the child and his parents, followed by genomic DNA extraction and whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the Hospital of Zhengzhou University (Ethics No. 2024-KY-1103-001). RESULTS: The child has manifested with seizures, microcephaly, and global developmental delay. WES revealed that he has harbored a novel de novo hemizygous nonsense variant of the SLC9A6 gene, namely c.1014G>A (p.W338*). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic. CONCLUSION The hemizygous c.1014G>A nonsense variant of the SLC9A6 gene probably underlay the pathogenesis in this child. Above discovery has expanded mutational spectrum of the SLC9A6 gene and enabled definite diagnosis of the child.
Humans ; Male ; Infant ; Microcephaly/genetics* ; Spasms, Infantile/genetics* ; Sodium-Hydrogen Exchangers/genetics* ; Exome Sequencing ; Intellectual Disability/genetics* ; Genetic Diseases, X-Linked/genetics* ; Mutation ; Seizures/genetics* ; Ataxia ; Epilepsy ; Ocular Motility Disorders

OBJECTIVE: To investigate the clinical phenotype and genotype features of children with Epileptic encephalopathy caused by PCDH19 mutations. METHODS: Four children with epilepsy caused by PCDH19 gene mutations who were treated at Shanghai Children's Medical Center from August 2015 to May 2024 were selected as study subjects. A retrospective study method was used to collect the clinical data of the patients. Peripheral venous blood samples (2 mL each) were collected from the patients and their parents. Genomic DNA was extracted, and whole exome sequencing (WES) was performed, followed by family verification of candidate variants by Sanger sequencing. Pathogenicity of the candidate variants was classified according to the "Genetic Variation Classification Standards and Guidelines" established by the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Shanghai Children's Medical Center (Approval No. SCMCIRB-K2020060-1). RESULTS: The patients comprised of 3 females and 1 male, all presenting symptoms before the age of 3. Patients 1-3 exhibited generalized tonic-clonic seizures, while patient 4 manifested focal seizures accompanied by impaired consciousness. In addition to epilepsy, patient 2 showed language delay and patient 3 had frequent panic attacks. WES results identified four pathogenic PCDH19 variants these patients, including 2 previously unreported frameshifting mutations,1 hotspot missense mutation, and 1 mosaic missense mutation with a 32.4% mutation rate. The pathogenic mutation in patient 2 was inherited from her father, while the remaining 3 patients had de novo pathogenic mutations. CONCLUSION Children with PCDH19 gene mutations may exhibit early-onset refractory epilepsy, cognitive impairment, and developmental delay. Females are predominantly affected by the PCDH19 mutations, although males with mosaic mutations can also be affected. The genetic and clinical heterogeneity observed among patients 1-4 indicated the diverse nature of epilepsy related to the PCDH19 gene mutations. PCDH19 gene mutations may be the genetic cause of epilepsy in these affected children, which also enriched the mutational spectrum of the PCDH19 gene.
Child, Preschool ; Female ; Humans ; Infant ; Male ; Cadherins/genetics* ; Epilepsy/genetics* ; Exome Sequencing ; Mutation ; Phenotype ; Protocadherins ; Retrospective Studies

OBJECTIVE: To explore the clinical features and genetic etiology of a child with a SETD1B gene variant causing seizures and language delay. METHODS: A child with a SETD1B gene variant admitted to the Department of Pediatric Neurology at the Third Affiliated Hospital of Zhengzhou University in September 2022 was selected as the study subject. Clinical data of the child were collected, and peripheral blood samples from the child and her parents were obtained. Whole exome sequencing (WES) was performed for genetic testing, and Sanger sequencing was used for familial validation of the candidate variant. Using "SETD1B" and "epilepsy" as the Chinese and English keywords, relevant cases were retrieved from databases including CNKI, Wanfang Data, OMIM and PubMed, with the search period spanning from database inception to June 2024. RESULTS: The child was a 6-year-old female presenting with myoclonic seizures accompanied by global developmental delay. WES and Sanger sequencing revealed that the child has carried a de novo SETD1B gene variant, namely c.5582G>A (p.Cys1961Tyr). According to the American College of Medical Genetics and Genomics (ACMG) guidelines for sequence variant interpretation, this variant was classified as likely pathogenic (PS2+PM2_Supporting+PP2+PP3). The child was not controlled with effective doses of valproate, levetiracetam, or clonazepam but was successfully managed with low-dose lamotrigine. Follow-up electroencephalography showed normal results, and developmental progress gradually improved. A total of 37 epilepsy cases with SETD1B gene variants were reported across six studies. The predominant seizure types included absence seizures and myoclonic absence seizures, accompanied by delayed language development. The response to pharmacological treatment was generally poor, with no significant difference in incidence between males and females. CONCLUSION SETD1B gene variants may cause neurological disorders with drug-resistant epilepsy and severe clinical manifestations. Lamotrigine is effective in controlling the epileptic seizures.
Humans ; Female ; Child ; Epilepsy/genetics* ; Language Development Disorders/genetics* ; Histone-Lysine N-Methyltransferase/genetics* ; Exome Sequencing ; Male