Pediatric anti-CaVα2δ autoimmune encephalitis: A case report and literature review.

Anti-voltage-gated calcium channel alpha-2/delta subunit (anti-CaVα2δ) encephalitis is a rare autoimmune encephalitis (AE), with only two cases of anti-CaVα2δ AE have been reported in the literatureto date. The clinical characteristics and prognosis of this rare AE need to beexpanded.We present the case of a 9-year-oldgirl, who initially presented with fever and lymphadenitis, which progressed to headaches, drowsiness, frequent seizures, cognitive impairment, memory loss, and involuntary movements.

Characterization of the phenotype and functional alternations of three HCN1 variants in Chinese epilepsy patients.

Purpose: To evaluate the electrophysiological properties of three HCN1 variant sites found in Chinese epileptic patients and to explore the potential relationship between genotype and phenotype.

Methods: We correlated clinical severity of three patients with HCN1 variants with whole-cell patch-clamp measurements of channel activity, channel expression detected by Western blot, and bioinformatics prediction of the damaging effects of each variant.

Results: Three patients with the variants p.

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.

Background: Congenital disorders of glycosylation are a rare group of disorders characterized by impaired glycosylation, wherein STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex, which is crucial for protein N-glycosylation. Previous studies have reported that STT3A-CDG is caused by autosomal recessive inheritance. However, in this study, we propose that STT3A-CDG can be pathogenic through autosomal dominant inheritance.

A peptide from the Japanese encephalitis virus failed to induce the production of anti-N-methyl-d-aspartate receptor antibodies via molecular mimicry in mice.

Background: The development of anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis following viral encephalitis, such as Japanese encephalitis, has received increasing attention in recent years. However, the mechanism of anti-NMDAR antibody production following Japanese encephalitis has not been explored.

Methods: A peptide from the Japanese encephalitis virus (JEV), which shares a similar amino acid sequence with GluN1, was identified by sequence comparison.

Autophagy alleviates hippocampal neuroinflammation by inhibiting the NLRP3 inflammasome in a juvenile rat model exposed particulate matter.

Ambient fine particulate matter (PM) is a global public and environmental problem. PM is closely associated with several neurological diseases, which typically involve neuroinflammation. We investigated the impact of PM exposure on neuroinflammation using both in vivo (in a juvenile rat model with PM exposure concentrations of 1, 2, and 10 mg/kg for 28 days) and in vitro (in BV-2 and HT-22 cell models with PM concentrations of 50-200 μg/ml for 24 h).

PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.

Introduction: PIGW-related glycosylphosphatidylinositol deficiency is a rare disease that manifests heterogeneous clinical phenotypes.

Methods: We describe a patient with PIGW deficiency and summarize the clinical characteristics of the case. In addition, we conducted a literature review of previously reported patients with pathogenic variants of PIGW.

Autoimmune encephalitis antibody profiles and clinical characteristics of children with suspected autoimmune encephalitis.

Aim: To identify the spectrum of autoimmune encephalitis antibody biomarkers (AE-Abs) in children with suspected autoimmune encephalitis and explore the clinical features indicating AE-Abs presence.

Method: We included children with suspected autoimmune encephalitis who underwent AE-Abs tests at the Children's Hospital of Chongqing Medical University between June 2020 and June 2022. Clinical features suggestive of AE-Abs were analysed based on AE-Abs test results.

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

Unlabelled: The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na/K-ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them as a cohort and analyzed their clinical data.

Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.

Background: Familial encephalopathy with neuroserpin inclusion bodies (FENIB), a rare neurogenetic disease, is characterized by progressive cognitive decline and myoclonus and caused by pathogenic variants of the SERPINI1 gene that lead to the formation of neuroserpin inclusion bodies.

Methods: We described the case of an Asian patient with FENIB associated with a pathogenic variant of SERPINI1 and summarized and analyzed the clinical characteristics of the case. In addition, we conducted a literature review of previously reported patients with this disease.

Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype.

Purpose: Most SCN1A missense variants located outside the sodium channel core region show a mild phenotype. However, there are exceptions, because of which it is challenging to determine the correlation between genotype and phenotype. In this study, we aimed to determine whether functional study could be used to determine disease severity in cases with such variants, and elucidate possible genotype-phenotype relationships.

External Assessment of the Anti-N-Methyl-D-Aspartate Receptor Encephalitis One-Year Functional Status Score in Chinese Pediatric Patients.

Objective: to assess the performance of the Anti-N-Methyl-D-Aspartate Receptor encephalitis (NMDAR) One-Year Functional Status (NEOS) score in predicting one-year functional outcome in Chinese children with anti-NMDAR encephalitis.

Methods: children with anti-NMDAR encephalitis at the Children's Hospital of Chongqing Medical University were retrospectively enrolled from January 2014 to December 2020. Patients were categorized into two groups based on the modified Rankin Scale (mRS) at one-year follow-up.

Case Report: Novel Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep.

We investigated the existence and potential pathogenicity of a splicing variant in a Chinese boy with Christianson Syndrome (CS), which was reported for the first time in China. Trio whole-exome sequencing (WES) was performed in the proband and his parents. Multiple computer prediction tools were used to evaluate the pathogenicity of the variant, and reverse transcription-polymerase chain reaction (RT-PCR) analysis and cDNA sequencing were performed to verify the RNA splicing results.

The Role and Mechanism of AMIGO3 in the Formation of Aberrant Neural Circuits After Status Convulsion in Immature Mice.

Leucine rich repeat and immunoglobulin-like domain-containing protein 1 (Lingo-1) has gained considerable interest as a potential therapy for demyelinating diseases since it inhibits axonal regeneration and myelin production. However, the results of clinical trials targeted at Lingo-1 have been unsatisfactory. Amphoterin-induced gene and open reading frame-3 (AMIGO3), which is an analog of Lingo-1, might be an alternative therapeutic target for brain damage.

Characteristics and outcomes of children with dissociative (conversion) disorders in western China: a retrospective study.

Background: Dissociative (conversion) disorder in children is a complex biopsychosocial disorder with high rates of medical and psychiatric comorbidities. We sought to identify the characteristics and outcomes of children with dissociative (conversion) disorders in western China.

Methods: We conducted a retrospective cohort study of 66 children admitted with dissociative (conversion) disorders from January 2017 to July 2019, and analyzed their clinical characteristics, socio-cultural environmental variables, and personality and psychiatric/psychological characteristics.

Prolactin levels as a criterion to differentiate between psychogenic non-epileptic seizures and epileptic seizures: A systematic review.

Objective: Psychogenic non-epileptic seizures (PNES) are conversion disorders with functional neurological symptoms that can resemble epileptic seizures (ES). We conducted a systematic review to obtain an overview of the value of prolactin (PRL) levels in the differential diagnosis between PNES and ES.

Methods: We searched PubMed, EMBASE, and Cochrane Library databases for studies published up to June 4th, 2020.

Efficacy of the ketogenic diet in patients with Dravet syndrome: A meta-analysis.

Purpose: Dravet syndrome is an infantile epilepsy syndrome with drug resistant seizures and cognitive impairment. The aim of this meta-analysis was to summarize the findings of relevant published studies to identify the efficacy of a ketogenic diet in patients with Dravet syndrome and their compliance thereof, and to provide useful information for clinical practice.

Methods: The PubMed, Embase, Wanfang, and CNKI databases were searched for relevant studies published up to September 25, 2019; the included studies were reviewed.

KCNQ2 related early-onset epileptic encephalopathies in Chinese children.

Objective: To study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with KCNQ2 (potassium voltage-gated channel subfamily Q member 2) related early-onset epileptic encephalopathies (KCNQ2-EOEEs) in Southwest China.

Methods: We used targeted next-generation sequencing (NGS) to identify KCNQ2 variants in Chinese patients with EOEEs. And patients with KCNQ2-EOEEs were confirmed after clinical and genetic analyses.

Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children.

SCN1A gene mutations are associated with epilepsy and neurodevelopmental disorders. This study aimed to explore the genotype and phenotype spectrum of SCN1A gene related epilepsy. Epileptic patients who were treated in the Children's Hospital of Chongqing Medical University from January 2015 to July 2018 and identified as having SCN1A mutations by targeted next-generation sequencing were included.