BackgroundWe attempted to determine whether the inflammatory pathway HMGB1-TLR4 and the downstream pro-inflammatory cytokines is upregulated in focal cortical dysplasia (FCD) type II and whether there is a correlation between the TLR4 upregulation and disease duration or frequency of epileptic seizures.MethodsFCD type II and peri-FCD paired tissues resected from eight children with refractory epilepsy were collected. Through real-time qPCR, Western blot, and co-immunoprecipitation, we ...

BACKGROUND: Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR). Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and provides a strategy for identifying new candidate genes. To date, no large-scale study has been conducted on subtelomeric aberrations in DD/MR patients in mainland China.

METHODS: This study included 451 Chinese children with moderate to severe ...

While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic generalized epilepsies (IGEs), the epilepsy-associated gene(s) in this region is/are still unknown. Our study investigated whether the CNVs in 15q11.2 are associated with childhood absence epilepsy (CAE) in Chinese patients and whether the selective magnesium transporter NIPA2 gene affected by 15q11.2 microdeletions is a susceptive gene for CAE. We assessed IGE-related ...

BACKGROUND: Some studies have reported clinical features of relapsing MOG-IgG-associated CNS demyelination principally in Caucasians children. It is not clear whether Chinese children share the same phenotype.

OBJECTIVE: To delineate the clinical characteristics in Chinese children with relapsing MOG-IgG-associated demyelination.

METHODS: A follow-up study on 23 Children with relapsing MOG-IgG-associated demyelination from two Chinese tertiary hospitals was performed. Phenotypic features ...

BackgroundRecent clinical observations have reported the potential benefit of vagus nerve stimulation (VNS) as an adjunctive therapy for pediatric epilepsy. Preliminary evidence suggests that VNS treatment is effective for seizure reduction and mental development in young participants between 3 and 6 years of age who suffer from intractable epilepsy. However, robust clinical evidence for quantifying the difference of the efficacy and safety of VNS treatment in this specific patient ...

Background and purpose: We retrospectively analyzed the clinical characteristics of children with autoimmune encephalitis (AE) in two Chinese tertiary pediatric neurology centers. We also compared anti-NMDAR encephalitis with and without co-positive MOG antibody, as well as specific autoantibody-positive AE and autoantibody-negative but probable AE. Methods: A retrospective study of children (0-18 years old) with AE in Peking University First Hospital and Children's Hospital Affiliated ...

Objective: To evaluate the efficacy and safety of ketogenic diet (KD) in patients with Dravet syndrome (DS). Methods: 60 DS patients receiving treatment of KD for more than 12 weeks from 2009 to 2018 were analyzed retrospectively. Modified Johns Hopkins protocol was used to initiate KD. Seizure frequency, electroencephalogram (EEG), cognition, language, and motor function of the patients were assessed. Side effects were monitored and adjusted accordingly. SPSS 23.0 software was used for ...

Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm of chromosome 11. It is characterized by developmental delay (DD)/mental retardation (MR), physical growth retardation, facial dysmorphism, visceral malformations and thrombocytopenia. We report two JBS patients from China out of a total of 451 patients with unexplained DD/MR. The genotypes of these patients were compared with earlier reported patients in North America and Europe. Both ...

This study aimed to evaluate the efficacy, adverse events and expense burden of outpatient versus remote programming for vagus nerve stimulation (VNS) in children with epilepsy. A total of 46 children with drug-resistant epilepsy, who underwent VNS at the Pediatric Epilepsy Center, Peking University First Hospital between March 2017 and June 2018, were enrolled into the study. Participants were assigned (non-randomized) into an outpatient programming group or remote programming group ...

OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population.

METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with ...

Background The unfolded protein response (UPR) includes three cascade pathways, which are responsible for the elimination of overload protein that is accumulated in the endoplasmic reticulum (ER). We hypothesize that mutations in connexin 47 (Cx47) lead to abnormal retain of the protein in the ER lumen, which causes Pelizaeus–Merzbacher-like disease (PMLD), a hypomyelinating leukodystrophic disorder.

Methods In this study, the influence of mutant Cx47 on the three UPR ...

Objective To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy (PME). Methods In this cross-sectional study, 26 PME children (11 boys and 15 girls) sent to neurological outpatient clinics and admitted to wards of the Department of Pediatrics, Peking University First Hospital were enrolled prospectively from January 2014 to October 2018. The pathogenic gene variants of PME children and their parents were identified ...

Objective To assess the effectiveness and safety of rituximab in Chinese children with autoimmune diseases of the nervous system. Method An ambispective cohort study enrolled patients with refractory and(or) relapse autoimmune diseases of nervous system from June 2010 to June 2016 in Peking University First Hospital.These patients failed to respond to steroids and(or)intravenous immunoglobulin (IVIG) were treated with rituximab and seen for follow-up visits once every 3 months.The ...