A5101852575- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- RNA modifications and cancer
- Congenital heart defects research
- Advanced Wireless Communication Technologies
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- RNA Research and Splicing
- ATP Synthase and ATPases Research
- Renal Diseases and Glomerulopathies
- Digestive system and related health
- Immunodeficiency and Autoimmune Disorders
- Urinary Tract Infections Management
- Cancer Genomics and Diagnostics
- Functional Brain Connectivity Studies
- Lysosomal Storage Disorders Research
- Urinary Bladder and Prostate Research
- Renal Transplantation Outcomes and Treatments
- Glycosylation and Glycoproteins Research
- Epigenetics and DNA Methylation
- Diabetes and associated disorders
- Glycogen Storage Diseases and Myoclonus
East China Normal University
2025
Peking University First Hospital
2020-2024
Huazhong University of Science and Technology
2024
Peking University
2020-2024
First Affiliated Hospital of Zhengzhou University
2019-2024
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...
This study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects GABRG2-related epilepsy its prognosis explore potential prospects for personalized medicine.Through multicenter collaboration in China, we analyzed genotype-phenotype correlation antiseizure medication (ASM) patients with epilepsy. The three-dimensional protein structure GABRG2 variant was modeled predict effect missense variants using PyMOL 2.3 software.In 35 variants, 22 were de novo, 18 novel....
This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male four female patients with were enrolled, including siblings brothers. Ten different (nine missense one splicing site) identified, among which six novel. All confirmed be de novo peripheral blood DNA. Eight (73%, 8/11) had epilepsy; seizure onset age ranged from 6 h after birth 4 months (median age, 2.5 months). Focal seizures observed all eight patients, epileptic spasms occurred (75%,...
Aim To explore the genotypes and phenotypes of CACNA1A variants in children with epilepsy. Method Eighteen (six males, 12 females) were identified using next‐generation sequencing. Results There 14 missense variants, two nonsense one frameshift variant, splice site variant. Sixteen de novo. Age at seizure onset ranged from 1 day to 8 years; median age was months. Multiple types observed, including focal, generalized tonic–clonic, myoclonic, absence seizures, as well epileptic spasms tonic...
Abstract Aim To explore the phenotypic spectrum and refine genotype–phenotype correlation of DYNC1H1 ‐related epilepsy. Method The clinical data 15 patients with epilepsy in our cohort 50 from 24 published studies variants were evaluated. Results In cohort, 13 identified (seven males, eight females). Twelve de novo seven new. Age at seizure onset ranged 3 months to 4 years 5 (median age 1 year). Common types epileptic spasms, focal seizures, tonic myoclonic seizures. Mild‐to‐severe...
Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which characterized by epilepsy, delay, microcephaly, unspecific facial dysmorphism, paroxysmal movement disorders. Most previous studies showed that the phenotypes of include encephalopathy(DEE) DEE Only one study patient variant had disorders no epilepsy. Case presentations Two cases variants are presented here: was diagnosed as DEE, he recurrent afebrile focal status epilepticus...
Abstract Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, many cases remain unknown the causes. This study aim to summarize clinical features causes PME patients. Methods Sanger sequencing target gene, Next Generation Sequencing (NGS) panels epilepsy, trio-based Whole Exome (WES) detection cytosine-adenine-guanine (CAG) repeat number were used investigate Results Thirty-eight children whose...
To investigate the abnormal changes of intrinsic neural time scale (INT) in male smoking addicts based on whole brain resting state functional magnetic resonance imaging (rs-fMRI).
Abstract We summarize the copy number variations (CNVs) and phenotype spectrum of infantile epileptic spasms syndrome (IESS) in a Chinese cohort. The CNVs were identified by genomic variation sequencing. clinical data analyzed. 74 IESS children with enrolled. 35 kinds identified. There 11 deletions 5 duplications not reported previously IESS, including 2 epilepsy. 87.8% de novo, 9.5% inherited from mother 2.7% father. Mosaicism occurred one patient Xq21.31q25 duplication. 16.2% (12/74) 1p36...
Reconfigurable intelligent surface (RIS) has been treated as a core technique in improving wireless propagation environments for the next generation communication systems. This paper proposes new coded caching problem, referred to Intelligent Surface (RIS)-assisted multiple-antenna caching, which is composed of server with multiple antennas and some single-antenna cache-aided users. Different from existing multi-antenna problems, we introduce passive RIS (with limited number units) into...
Objective: To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants. Methods: Data 6 IRF2BPL variants seen from May 2017 to September 2020 Department Pediatrics Peking University First Hospital were retrospectively collected. The clinical characteristics genetic test results analyzed. Results: A total (1 boy 5 girls) identified. age seizure onset was 3.5 7.0 months. Epileptic spasms observed patients,...
Objective: To summarize the clinical characteristics and features of electroencephalograph (EEG) children with DEPDC5 gene variants related epilepsy. Methods: The data, variation, EEG head magnetic resonance image (MRI) 20 epileptic admitted to Department Pediatrics, Peking University First Hospital from May 2017 November 2020 were retrospectively analyzed. Results: Twenty patients heterozygous enrolled, 8 nonsense variants, 6 missense 3 frame-shift 2 splicing 1 was large fragment deletion....
Objective: To summarize the genotypes and clinical features of neonatal-onset genetic epilepsy. Methods: Patients (114 cases) with identified gene variants were collected from May 2013 to 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic neuroimaging characteristics analyzed. Results: A total 141 epilepsy patients enrolled, including 76 males 65 females involving 33 genes. Top five genes KCNQ2 (56 cases), SCN2A (25 STXBP1 (9 CDKL5 (8...
Objective: To summarize the phenotypes of epilepsy in patients with MBD5 gene variants. Methods: A total 9 epileptic patients, who were treated Department Pediatrics, Peking University First Hospital from July 2016 to September 2021 and detected pathogenic variants, enrolled. The features clinical manifestations, electroencephalogram (EEG), neuroimaging analyzed retrospectively. Results: Among 6 male 3 female. Age at seizure onset ranged 5 89 months. Multiple types observed, including...
Objective: To summarize the genetics and clinical phenotypes of epilepsy children with 2q24.3 microdeletion. Methods: All patients microdeletion were retrospectively collected at Pediatric Department Peking University First Hospital from March 2017 to July 2022. The features manifestations, electroencephalogram (EEG), neuroimaging analyzed. Results: There 13 included. had de novo copy number variation (CNV) a deletion size ranged 0.18-7.31 Mb. main pathogenic genes in region SCN3A, SCN2A,...
Objective: To analyze the genotypes and clinical phenotypes of patients with epilepsy associated IQSEC2 gene variants. Methods: The genotypes, seizure types, electroencephalogram, neuroimage 6 variants in Department Pediatrics, Peking University First Hospital from July 2019 to October 2021 were analyzed. Results: There 5 males 1 female. Six de novo, including 2 frameshift (c.3801_3808dup/p.Q1270Rfs*130, c.1459_1460delAT/p.M487Vfs*2), nonsense (c.3163C>T/p.R1055*, c.1417G>T/p.E473*),...
Objective To discuss the clinical effect of Xingpi Yang’er granule combined with deaminopressin in treatment monosymptomatic nocturnal enuresis (MNE) and arousal difficulty children. Methods A total 101 children (NE, NE group) 80 normal physical examination (normal were selected from First Affiliated Hospital Zhengzhou University January 2016 to 2018. The data a sleep score (AS score) these analyzed. further divided into four groups according methods: behavior group (group A, 13...
对郑州大学第一附属医院儿科收治的1例高IgE综合征(HIES)伴脊柱侧弯患儿的临床资料行回顾性分析。患儿，男，7岁5个月，婴儿期反复皮肤湿疹，自1岁开始头面部反复红斑、丘疹、脓疱，眼距增宽，高腭弓，右眼眼球凸出，4岁时发现脊柱侧弯。血常规嗜酸性粒细胞计数0.77×109/L，IgE 25.92×106 IU/L。颈部脓肿病理活检：淋巴结反应性增生，局灶性化脓性炎。基因检测提示STAT3基因21号外显子1 909位点突变。予抗感染治疗后症状缓解。提示HIES早期临床表现无特异性，对于反复皮疹、脓疱，尤其合并脊柱侧弯、眼距增宽、面部不对称等患儿，需警惕HIES，早期识别，减少误诊。