A5013407402- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Autoimmune Neurological Disorders and Treatments
- Genomics and Rare Diseases
- Ion channel regulation and function
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Myasthenia Gravis and Thymoma
- Cardiac electrophysiology and arrhythmias
- Pharmacological Effects and Toxicity Studies
- Infection Control in Healthcare
- Cytomegalovirus and herpesvirus research
- Congenital heart defects research
- Endoplasmic Reticulum Stress and Disease
- RNA regulation and disease
- Parkinson's Disease and Spinal Disorders
- Antifungal resistance and susceptibility
- Cellular transport and secretion
- COVID-19 Impact on Reproduction
- Hypertrophic osteoarthropathy and related conditions
- Infectious Encephalopathies and Encephalitis
- Epigenetics and DNA Methylation
- Virtual Reality Applications and Impacts
- Sleep and Wakefulness Research
Central South University
2018-2025
Xiangya Hospital Central South University
2018-2025
Hunan Children's Hospital
2023
Kilimanjaro Christian Medical Centre
2020-2022
St. Francis Referral Hospital
2020-2021
The purposes of this study were three-fold: (i) to determine the contribution known genes causation a broad-spectrum pediatric drug-resistant epilepsy (DRE), (ii) compare diagnostic yield and cost among different next-generation sequencing (NGS) approaches, especially (iii) assess how NGS approaches can benefit patients by improving diagnosis treatment efficiency.This enrolled 273 DRE with no obvious acquired etiology. Seventy-four underwent whole-exome (WES), 141 had epilepsy-related gene...
Background and purpose: The clinical radiological features of myelin oligodendrocyte glycoprotein antibody (MOG-Ab) diseases vary among the patients studies. In addition, significance MOG-Ab for diagnosis, treatment, prognosis is not yet established. Therefore, we aimed to evaluate clinical, radiological, treatments outcome in Central Southern part China. Methods: A retrospective study children with disease was carried out from January 2015 October 2018. Demographics, features, treatments,...
Objective To explore the etiology of infantile spasms (IS) in a large Chinese cohort based on United States National Infantile Spasms Consortium (NISC) classification. Methods In present study, we recruited IS patients diagnosed at single center (Xiangya Hospital, Central South University) between Jan 2010 and Aug 2019. Thereafter, collected their clinical genetic information retrospectively. Their underlying etiologies were classified according to NISC classification then compared different...
Although anti-GAD65 related epilepsy is rare, it needs more attention because refractory to the conventional therapies, has poor outcome and high relapse rate. In this study, we intended report efficacy of tocilizumab in treatment antibodies based on our center's experience literature review. The clinical data patients managed with at Xiangya Hospital those from was collected analysed. A female child presented center neuropsychiatric symptoms generalized tonic-clonic seizures (including...
Introduction: The concurrence of intellectual disability/global developmental delay and epilepsy (ID/GDD-EP) is very common in pediatric population. etiologies for both conditions are complex largely unknown. predictors significant copy number variations (CNVs) known the cases with ID/GDD but unknown those exclusive ID/GDD-EP. Importantly, from same ethnic group hence they lack replication. Purpose: We aimed to determine investigate diagnostic yield CNV tests, new causative CNVs, independent...
Genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders such as global developmental delay (GDD)/intellectual disability (ID), epileptic encephalopathy (EE), and autism spectrum disorder (ASD) are unknown. We aimed to summarize genotype-phenotype potential treatment for disorders.Six children diagnosed with at Xiangya Hospital, Central South University from April 2018 July 2021 were enrolled. The PubMed database was systematically searched all reported patients...
Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. "Complete or partial loss function (LoF)," "dominant-negative (DN) effect" are applied describe variant's molecular phenotypes. The study here aimed investigate clinical presentations and variant effects associations the Methods: We reported 10 Chinese pediatric patients with disorder here. Functional experiments on newly variants,...
Abstract Background We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and treatment choices in a case-series -related disorders from China. Methods The clinical data genetic results children diagnosed with at Xiangya hospital 2011 2019 were collected retrospectively, analyzed. divided our patients into groups for comparison purposes: missense variants nonsense who are seizure-free not seizure-free, mild moderate intellectual disability...
Background and Purpose: To date, there is no specific treatment guideline for the benign childhood epilepsy with centrotemporal spikes (BECTS). Several countries recommend levetiracetam, carbamazepine, sodium valproate, oxcarbazepine, lamotrigine as first-line drugs. Nevertheless, some of these drugs are associated cognitive decline. Available studies that investigated efficacy levetiracetam valproate on BECTS involved small sample sizes. This study aimed to evaluate cognition, investigate...
Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered for more than a decade, but the establishment of standardized immunotherapy protocol pediatric patients still needs clinical evidence. Methods: A multicenter, retrospective study was conducted on diagnosed with anti-NMDAR between November 2011 and December 2018. The records including manifestations, strategies, outcomes were collected analyzed. Results: total 386 included in our median onset age 8.00 (IQR...
Abstract Background SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants the gene have been associated with X-linked neurodevelopmental disorders recent years. Methods In study, we reported two male patients familial variants related from Asian population. Previously published cases significant literature were also included to analyze phenotype genotype of disorder. Results Two maternally inherited variants, including...
Glutamate-induced excitotoxicity is a pathological basis of many acute/chronic neurodegenerative diseases. Sarco/endoplasmic reticulum Ca 2+ -ATPase (SERCA2b) membrane-embedded P-type ATPase pump that manages the translocation calcium ions (Ca ) from cytosol into lumen endoplasmic (ER) stores. It participates in wide range biological functions central nervous system (CNS). However, role SERCA2b glutamate-induced and its mechanism must be elucidated. Herein, we demonstrate mutants exacerbate...
Myasthenia gravis is an organ-specific autoimmune disease. Currently there no universal guidelines for childhood-onset myasthenia gravis, therefore, treatment strategies are usually based on the from adult patients. In order to contribute in process of development guideline, we have summarized clinical characteristics, strategies, outcome and related predictors gravis. We recruited 343 cases who were followed up at Department Pediatrics, Xiangya Hospital June, 2010 December, 2019. The data...
Objective: The purpose of this study was to search for differential metabolites in urine organic acids, and characterize metabolic features that can be used identify exploration global developmental delay (GDD)/intellectual disability (ID) etiology pathogenesis. Methods: We screened positive test results could explain GDD/ID from 1,253 cases, the major 132 acids 1,230 cases with negative (863 GDD 367 ID cases), 100 typically developing children (TD). Non-supervisory principal component...
Objective To investigate the pathogenesis of three novel de novo CACNA1C variants (p.E411D, p.V622G, and p.A272V) in causing neurodevelopmental disorders arrhythmia. Methods Several molecular experiments were carried out on transfected human embryonic kidney 293 (HEK 293) Chinese hamster ovary (CHO) cells to explore effects p.E411D, p.A272V electrophysiology, mitochondrial lysosomal functions. Electrophysiological studies, RT-qPCR, western blot, apoptosis assay, mito-tracker fluorescence...