A5065353094- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Glycogen Storage Diseases and Myoclonus
- Amino Acid Enzymes and Metabolism
- Neonatal and fetal brain pathology
- Mitochondrial Function and Pathology
- earthquake and tectonic studies
- EEG and Brain-Computer Interfaces
- Reconstructive Surgery and Microvascular Techniques
- Genomic variations and chromosomal abnormalities
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Natural Language Processing Techniques
- Ion channel regulation and function
- RNA modifications and cancer
- Neurological disorders and treatments
- RNA regulation and disease
- Seismology and Earthquake Studies
- High-pressure geophysics and materials
- Topic Modeling
- Earthquake Detection and Analysis
Peking University People's Hospital
2023-2025
Peking University
2016-2025
Peking University First Hospital
2016-2025
Zhengzhou Children's Hospital
2025
Zhengzhou University
2025
Air Force Medical University
2024
Xijing Hospital
2024
Kunming University
2022-2024
Kunming Medical University
2018-2023
Tiangong University
2022
M2‑like tumour‑associated macrophages (TAMs) have been demonstrated to promote the growth of anaplastic thyroid carcinoma (ATC). However, underlying mechanism TAMs in ATC remains unclear. Thus, present study, role and were investigated. induced by treatment with PMA, plus IL‑4 IL‑13, identified flow cytometry. Transwell sphere formation assays applied assess invasion stemness cells. The expression levels insulin‑like factor (IGF)‑1 IGF‑2 examined ELISA reverse transcription‑quantitative PCR....
Abstract Background More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion. Objective The objective of this study was to confirm a novel SCA subtype caused by Methods We performed long‐read whole‐genome sequencing combined linkage analysis in five‐generation Chinese family, finding validated another pedigree. three‐dimensional structure function THAP11 mutant protein were predicted....
Two general protocols for the regioselective electrochemically enabled sulfonylation cyclization of
Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent attacks triggered sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it only responsible for approximately half affected individuals, indicating that other loci are most likely involved in etiology this disorder. To explore underlying PRRT2-negative PKD, we used combination strategy including linkage analysis, whole-exome sequencing and copy number...
The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis 72 Chinese children with SCN2A variants.The variants were detected by next-generation sequencing. All patients followed up at a pediatric neurology clinic in our hospital or telephone.In variants, seizure onset age ranged from first day life 2 years 6 months. epilepsy phenotypes included febrile seizures (plus) (n = 2), benign (familial) infantile 9), familial neonatal-infantile 3), neonatal 1), West...
ABSTRACT Importance Perampanel (PER) is used less extensively in children than adults. Currently, there a lack of data from PER clinical studies with large sample sizes Chinese and adolescents epilepsy, especially those refractory epilepsy. Objective To evaluate the effectiveness, retention, safety treatment epilepsy China. Methods This was multicenter, prospective, observational study. Children who received as adjunctive therapy were included. The primary effectiveness endpoint proportion...
Introduction Different ecotypes exhibit distinct life histories and occupy various environmental conditions for local adaptation. Coilia nasus , an anadromous fish, resides in offshore waters of the Pacific Northwest reproduces connected rivers lakes, including middle-lower Yangtze River. Populations C. have differentiated into two ecotypes: migratory landlocked. Methods This study examined spatiotemporal distributions these their habitats by analyzing DNA collected from Poyang Lake Tai...
The regional hazard mapping for the whole Eastern Asia was coordinated by SSB Regional Centre in Beijing, originating from expansion of test area initially established border region China-India-Nepal-Myanmar- Bangla Dash, coordination with other Centres (JIPE, Moscow, and AGSO, Canberra) direct assistance USGS. All Asian countries have participated directly this effort, addition Japan, which an existing national map incorporated. depicts expected peak ground acceleration 10% exceedance...
Background Mutations in the PCDH19 gene have mainly been reported female patients with epilepsy. To date, mutations hundreds of females and only 10 mosaic male epileptic mosaicism. Objective We aimed to investigate occurrence 42 families comprising at least one patient -related Methods Two variants were identified using targeted next-generation sequencing. Forty by Sanger sequencing Multiple Ligation Probe Amplification (MLPA). Microdroplet digital PCR was used quantify mutant allelic...
Recently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most them were noted with developmental epileptic encephalopathy (DEE) or (EE). This study aimed to determine etiologies clinical characteristics ESES DEE/EE.We performed a cohort cases DEE EE ESES. Tio-based testing was 74 analyzed identify underlying variants.Pathogenic likely pathogenic variants identified 17/74 cases, including KCNQ2 (n = 6),...
Regioselective cyanoalkylalkenylation of 3-aza-1,5-dienes with oxime esters induced by visible light.
Background Electroencephalogram (EEG) activity in normal subjects and epileptic patients is often closely related to the eye's status such as eye opened (EO), closure (ECL) eyes closed (EC). ECL period immediately after closing of only lasts for less than 3 seconds if remain closed. EC long are Epileptiform changes on EEG induced by or called sensitivity (ECLS) (ECS). ECLS occurs mainly but not exclusively photosensitive ECS has been seen rarely patients. This study aimed investigate...
Aim To analyze the clinical outcome and neuroimaging over a long duration follow‐up in currently largest series of acute encephalopathy after status epilepticus patients with Dravet syndrome. Method Clinical data syndrome history (coma >24h) from February 2005 to December 2016 at Peking University First Hospital were reviewed retrospectively. Results Thirty‐five (15 males, 20 females) enrolled total 624 (5.6%). The median onset age was 3 years 1 month. varied between 40 minutes 12 hours....
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 genetic features HMDs in Chinese population. Methods 119 patients hypomyelinating population were enrolled evaluated based their history, manifestation, laboratory examinations, series follow-up, etiological tests including chromosomal analysis, multiplex...
Abstract CSNK2B , which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported five cases only. Among 816 probands suspected hereditary whose initial report trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely variants nine identified after reanalysis their raw Trio-WES data....