Neuropsychiatric SLE (NPSLE) comprises the neurologic and psychiatric syndromes observed in patients with SLE after exclusion of other causes. The diagnosis of NPSLE is challenging due to diverse clinical manifestations and absence of laboratory or radiologic biomarkers.

We present the case of a patient with SLE with a chronic isolated seizure and was successfully managed with antiepileptic medication and high-dose corticosteroids.

Seizures may occur as an isolated manifestation of an SLE flare. Ischemic and inflammatory causes of seizure may coexist in active lupus and both should be considered in managing patients. A prompt and holistic workup to rule out metabolic, infectious, and structural neural causes and lupus disease activity of seizures is prudent for patients with SLE.

The occurrence of seizures after hemorrhagic stroke is a significant contributor to mortality in patients with hemorrhagic stroke. Compared with ischemic stroke， hemorrhagic stroke is more frequently to cause seizures， with high disability and high mortality. If not detected early and treated in time， seizures may aggravate patient’s conditions in the acute stage， and cause accidental injuries in the recovery stage， increasing the burden on patient’s family. Early prediction and timely treatment of seizures can improve the survival rate and quality of life of patients. With science and technology advances， domestic and international researchers have established prediction models for seizures after hemorrhagic stroke， which use machine learning methods to process and identify relevant data， improving the accuracy of prediction for the disease. This review aims to summarize risk factors for post-hemorrhagic stroke seizures and related prediction models， so as to provide guidance for clinical diagnosis and treatment.
Seizures

BACKGROUND AND OBJECTIVE

Benign convulsions with mild gastroenteritis (CwG) is common but not readily recognizable to primary care physicians and pediatricians. Most literature comes from East Asia and Western countries. Studies among the Filipino population are lacking. This study aimed to determine the clinical presentation, management, and outcomes, and provide knowledge for accurate diagnosis and appropriate management.

This is a retrospective cohort study on pediatric patients diagnosed with CwG admitted at a tertiary hospital in the Philippines from January 2020 to December 2023. The study included patients 1-72 months old presenting with seizures accompanied by symptoms of gastroenteritis, without clinical signs of dehydration, electrolyte derangement, and fever (body temperatureRESULTS

Twenty patients met the criteria for CwG, aged 7-60 months, with a male:female ratio of 1:1. Most seizures were brief, generalized tonic-clonic occurring in clusters, with an average frequency of 3 per day. Laboratory findings, electroencephalogram, and neuroimaging results were mostly normal. Anti-seizure medications (ASMs) were prescribed in 65% (n=13), with levetiracetam being the most common. Most seizure clusters did not persist, and none needed additional ASM. Follow-up showed normal neurodevelopmental profiles.

This study highlights that CwG is also encountered among Filipino children. The clinical characteristics align with the known presentation of CwG. Most patients had normal test results and a benign course. Given this selflimiting nature, extensive testing and unnecessary therapy are not recommended, and instead provision of adequate counseling to the caregivers is advocated.

There are some limitations in the localization of epileptogenic zone commonly used by human eyes to identify abnormal discharges of intracranial electroencephalography in epilepsy. However, at present, the accuracy of the localization of epileptogenic zone by extracting intracranial electroencephalography features needs to be further improved. As a new method using dynamic network model, neural fragility has potential application value in the localization of epileptogenic zone. In this paper, the neural fragility analysis method was used to analyze the stereoelectroencephalography signals of 35 seizures in 20 patients, and then the epileptogenic zone electrodes were classified using the random forest model, and the classification results were compared with the time-frequency characteristics of six different frequency bands extracted by short-time Fourier transform. The results showed that the area under curve (AUC) of epileptic focus electrodes based on time-frequency analysis was 0.870 (delta) to 0.956 (high gamma), and its classification accuracy increased with the increase of frequency band, while the AUC by using neural fragility could reach 0.957. After fusing the neural fragility and the time-frequency characteristics of the γ and high γ band, the AUC could be further increased to 0.969, which was improved on the original basis. This paper verifies the effectiveness of neural fragility in identifying epileptogenic zone, and provides a theoretical reference for its further clinical application.
Humans ; Electroencephalography/methods* ; Epilepsy/diagnosis* ; Seizures ; Stereotaxic Techniques

OBJECTIVE: To explore the genetic etiology of a child with Hypomagnesemia, epilepsy and mental retardation syndrome (HSMR). METHODS: A child who was admitted to the Children's Hospital of Shandong University on July 9, 2021 due to repeated convulsions for 2 months was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his pedigree members were collected for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 1-year-and-7-month-old male, had presented with epilepsy and global developmental delay. Serological testing revealed that he has low serum magnesium. Genetic testing showed that the child has harbored a heterozygous c.1448delT (p.Val483GlyfsTer29) variant of the CNNM2 gene, which was de novo in origin. The variant has caused substitution of the Valine at position 483 by Glycine and formation of a termination codon after 29 amino acids at downstream. As predicted by Swiss-Model online software, the variant may alter the protein structure, resulting in a truncation. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1448delT (p.Val483GlyfsTer29) was predicted as a pathogenic variant (PVS1+PS2+PM2_Supporting+PP4). CONCLUSION The heterozygous c.1448delT variant of the CNNM2 gene probably underlay the HSMR in this child. Above finding has enriched the phenotype-genotype spectrum of the CNNM2 gene.
Humans ; Male ; Cation Transport Proteins ; Computational Biology ; Ethnicity ; Intellectual Disability/genetics* ; Magnesium ; Mutation ; Seizures/genetics* ; Infant

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS). METHODS: A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting). CONCLUSION The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.
Child ; Male ; Humans ; Infant ; Developmental Disabilities/genetics* ; Craniofacial Abnormalities/genetics* ; Seizures/genetics* ; Intellectual Disability/genetics* ; Problem Behavior ; Mutation

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the GPAA1 gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by GPAA1 gene mutation in China and summarizes the genetic features, clinical features, diagnosis, and treatment of this disease, which provides a reference for the early diagnosis and treatment of GPIBD15.
Humans ; Male ; Fever ; Glycosylphosphatidylinositols/genetics* ; Membrane Glycoproteins/genetics* ; Mutation ; Rare Diseases ; Seizures ; Child

Animals ; Seizures/therapy* ; Primates

Epilepsy is a common, chronic neurological disorder that has been associated with impaired neurodevelopment and immunity. The chemokine receptor CXCR5 is involved in seizures via an unknown mechanism. Here, we first determined the expression pattern and distribution of the CXCR5 gene in the mouse brain during different stages of development and the brain tissue of patients with epilepsy. Subsequently, we found that the knockdown of CXCR5 increased the susceptibility of mice to pentylenetetrazol- and kainic acid-induced seizures, whereas CXCR5 overexpression had the opposite effect. CXCR5 knockdown in mouse embryos via viral vector electrotransfer negatively influenced the motility and multipolar-to-bipolar transition of migratory neurons. Using a human-derived induced an in vitro multipotential stem cell neurodevelopmental model, we determined that CXCR5 regulates neuronal migration and polarization by stabilizing the actin cytoskeleton during various stages of neurodevelopment. Electrophysiological experiments demonstrated that the knockdown of CXCR5 induced neuronal hyperexcitability, resulting in an increased number of seizures. Finally, our results suggested that CXCR5 deficiency triggers seizure-related electrical activity through a previously unknown mechanism, namely, the disruption of neuronal polarity.
Animals ; Humans ; Mice ; Actin Cytoskeleton/metabolism* ; Actins/metabolism* ; Epilepsy/metabolism* ; Neurons/metabolism* ; Receptors, CXCR5/metabolism* ; Seizures/metabolism*

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97^th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.
Male ; Humans ; Child ; Intellectual Disability/genetics* ; Developmental Disabilities/genetics* ; Retrospective Studies ; Seizures/genetics* ; Craniofacial Abnormalities/genetics* ; Histone Deacetylases/genetics*