A5053195007- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Single-cell and spatial transcriptomics
- Neonatal Respiratory Health Research
- Retinal Development and Disorders
- Ion Transport and Channel Regulation
- Peptidase Inhibition and Analysis
- Neuroinflammation and Neurodegeneration Mechanisms
- Non-Invasive Vital Sign Monitoring
- Amino Acid Enzymes and Metabolism
- EEG and Brain-Computer Interfaces
- Inhalation and Respiratory Drug Delivery
- Occupational and environmental lung diseases
- MicroRNA in disease regulation
- Air Quality and Health Impacts
- Neonatal and fetal brain pathology
- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
Shenzhen Children's Hospital
2019-2025
China Medical University
2022
Objective Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) emerged as robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based techniques. Methods Exome-based epilepsy panel tests, clinical exome (CES), and whole (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) copy number (CNVs) interpreted based each patient’s...
Abstract Background The ketogenic diet (KD) therapy is a primary treatment for drug-resistant epilepsy, and beta-hydroxybutyrate (BHB) the main ketone produced during KD. However, pattern of increase in BHB levels not well understood, reference range need to be defined. aim this study was evaluate first three months, especially one week, after KD initiation, explore physiological BHB. Methods In our study, fasting initiation strategy used majority patients (252/300, 84%) who underwent 24–48...
Approximately 75% of epilepsy cases emerge in childhood, and 10%-30% these pediatric are resistant to standard drug therapies; however, the underlying causes resistance remain poorly understood. Focal cortical dysplasia (FCD) is a primary contributor often associated with resistance. We performed single-nucleus RNA sequencing (snRNA-seq) patch-clamp recording fresh brain tissue samples that were obtained from FCD patients during surgery. Our study revealed significant transcriptomic changes...
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with from neurology clinic Shenzhen Children's Hospital September 2020 to October 2021. The average monthly seizure frequency within 2 months before enrollment was recorded as baseline. PER administered after enrollment. response rate (the reduction ≥50% compared baseline) regarded major index. adverse...
This study aimed to identify characteristic proteins in infantile epileptic spasm syndrome (IESS) patients' plasma, offering insights into potential early diagnostic biomarkers and its underlying causes. Plasma samples were gathered from 60 patients with IESS 40 healthy controls. Data-independent acquisition proteomic analysis was utilized differentially expressed (DEPs). These DEPs underwent functional annotation through Gene Ontology (GO) the Kyoto Encyclopedia of Genes Genomes (KEGG)...
Abstract Background West syndrome is a devastating disorder characterized by triad of epileptic spasms, abnormal electroencephalography (EEG), and developmental arrest or psychomotor delay. In addition to early diagnosis, knowing the etiology condition also important for its treatment. Among various etiologies, genetic factors, especially mutations ion channel genes, are very common strongly linked syndrome. Case presentation A boy who had spasms from age 4 months was diagnosed with based on...
Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by with variable degree intellectual disability. WDR62 has been reported as the second causative gene MCPH2. West syndrome severe epilepsy composed triad spasms, hypsarrhythmia, and mental retardation. There are limited clinical reports regarding mutation syndrome. Here we report boy who was identified followed up from age 3 months to 5 14 days. He had first seizure classic epileptic spasm...
Objective To compare the scores of amplitude-integrated electroencephalogram (aEEG) tracings between preterm infants who were smaller for gestational age (SGA) and those appropriate gestation(AGA). Methods A total 139 collected in Neonatal Intensive Care Unit Affiliated Hospital Guangdong Medical College during period Mar.2013 to Feb.2014.One hundred fourteen patients met inclusion criteria with ages from 32 36 weeks at birth, including 54 SGA 60 AGA infants.The aEEG recordings...
Objective Despite numerous guidelines, the overall outcome of infantile spasms is poor, with only a small number patients being able to attend school. The purpose this study was investigate long-term outcomes. Patients had poor access recommended first-line anti-seizure medications (ASMs), such as hormones (corticotropin or prednisolone/prednisone) and vigabatrin, their alternative treatment other ASMs ketogenic diet. Methods suffering from who at least 2 years medical records in electronic...
Abstract About 75% cases of epilepsy begin during childhood, and 10 - 30% pediatric patients are resistant to drug treatment. The predominant seizure type in children is focal cortical dysplasia (FCD) which highly associated with drug-resistant epilepsy, but its underlying cause poorly understood. We performed single-cell RNA sequencing patch-clamp recording on fresh brain tissues obtained from FCD shortly after surgery reveal critical factors contributing FCD. report that known genes or...