A5101430996- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Genomic variations and chromosomal abnormalities
- Biochemical and Molecular Research
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Machine Learning in Bioinformatics
- Pharmacological Effects and Toxicity Studies
- ATP Synthase and ATPases Research
- Neurological diseases and metabolism
- Viral Infectious Diseases and Gene Expression in Insects
- Heat shock proteins research
- Adolescent and Pediatric Healthcare
- Prenatal Screening and Diagnostics
- Renal and related cancers
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Axon Guidance and Neuronal Signaling
- Cancer-related gene regulation
- Infectious Encephalopathies and Encephalitis
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
Peking University First Hospital
2017-2024
Peking University
2017-2024
Shenzhen Children's Hospital
2020-2023
Institute of Molecular and Cell Biology
2007
Roswell Park Comprehensive Cancer Center
1988
Wwtr1 is a widely expressed 14-3-3-binding protein that regulates the activity of several transcription factors involved in development and disease. To elucidate physiological role Wwtr1, we generated Wwtr1-/- mice by homologous recombination. Surprisingly, although known to regulate Cbfa1, factor important for bone development, show only minor skeletal defects. However, animals present with renal cysts lead end-stage Cysts predominantly originate from dilation Bowman's spaces atrophy...
Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one the most severe developmental and epileptic encephalopathies. We delineate genetic causes genotype–phenotype correlations a large EIMFS cohort. Methods Phenotypic molecular data were analyzed on patients recruited through an international collaborative study. Results ascertained 135 from 128 unrelated families. Ninety‐three (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel...
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen 15 parents multiple tissue samples. used ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect of the proband's pathogenic mutation SCN1A, causal gene DS 112 families. Ten paternal sperm samples found exhibit mutations,...
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...
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....
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....
Benign familial epilepsies that present themselves in the first year of life include benign neonatal epilepsy (BFNE), neonatal-infantile (BFNIE) and infantile (BFIE). We used Sanger sequencing targeted next-generation to detect gene mutations a Chinese cohort patients with these three disorders. A total 79 families were collected, including 4 BFNE, 7 BFNIE, 68 BFIE. Genetic testing led identification 60 (60 out 79, 75.9%). 42 had PRRT2 mutations, 9 KCNQ2 8 SCN2A 1 GABRA6 mutation. In four...
The aim of this report was to refine the genotypes and phenotypes chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. identified by application next-generation sequencing epilepsy or whole exome sequencing. Sixteen identified, among which 15 have not yet been reported. Thirteen de novo. Age at seizure onset ranged from 3 months 10 years 5 months. Seizures observed generalized tonic-clonic, myoclonic, atonic, atypical...
Objective: We aimed to explore the associated clinical phenotype and natural history of patients with SYNGAP1 gene variations during early childhood identify their genotype-phenotype correlations. Methods: This study used a cohort 13 epilepsy developmental disorder due mutations, namely, 7 from Shenzhen Children's Hospital between September 2014 January 2020 6 previously published studies. Their data were studied. Results: A total children variants (eight boys five girls) identified. The age...
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic caused de novo ATP1A3 pathogenic variants. In this study, the aim was to identify origin variants in Chinese cohort. 105 probands including 101 4 familial cases, 98 patients with were identified, 96.8% confirmed as novo. Micro-droplet digital polymerase chain reaction applied for detecting mosaicism 80 available families. blood...
Progressive myoclonic epilepsy (PME) is a group of rare diseases characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME has high genetic heterogeneity, more than 40 genes are reportedly associated with this disorder. SEMA6B encodes member the semaphorin family was first reported to cause in 2020. Herein, we present case due novel gene mutation 6-year-old boy born healthy non-consanguineous Chinese parents. His developmental milestones were...
Transgenic mice are being used as an assay to identify the DNA sequences that direct tissue specificity and physiological regulation of murine renin gene expression. In initial studies, a segment encoding duplicated gene, Ren-2, has been injected into pronuclei fertilized eggs homozygous for Ren-1c allele. The 24 kb XhoI fragment utilized consists 5.3 upstream flanking 9.5 3' sequence in addition 10 9 exons natural gene. Seventeen transgenic founder were identified which at least 7 exhibited...
PurposeTo summarize the clinical features and neuroimaging changes of epilepsy associated with TBC1D24 mutations.MethodsGenetic testing was conducted in all patients without acquired risk factors for epilepsy. Epilepsy identified compound heterozygous mutations by next-generation sequencing (NGS) panel or whole exome (WES) were enrolled. The enrolled followed up to features.ResultsNineteen mutations. Nine carried same pathogenic variant c.241_252del. seizure onset age ranged from 1 day 8...
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...
Objective: To summarize the phenotype of epileptic children with SCN2A mutations. Methods: Epileptic patients who were treated in Pediatric Department Peking University First Hospital from September 2006 to October 2017 and detected mutations by targeted next-generation sequencing enrolled. Clinical manifestations all analyzed retrospectively. Results: A total 21 (16 boys 5 girls) collected. Twenty-one identified. Ten had inherited one their parents 11 de novo The age epilepsy onset was 2...
Objective: To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. Methods: All patients compound heterozygous were retrospectively collected at Pediatric Department Peking University First Hospital from March 2015 to July 2017, and manifestations, electroencephalogram, neuroimaging analyzed. Results: Eighteen cases included. The age seizure onset was 1 day 8 months, median 90 days. Seizure types included generalized tonic-clonic seizures (GTCS) in 3 cases,...
To summarize the clinical features of epilepsy and (or) developmental delay associated with KCNB1 gene variants in children.
Abstract Aim To investigate the seizure course of PCDH19 clustering epilepsy ( ‐CE) in a cohort female children China. Method This ambidirectional study examined 113 patients with ‐CE through multicentre collaboration. Prognostic factors for freedom were evaluated by multivariate Cox regression analysis. Results The median period from onset was 6 years months. Of patients, 78% and 56% experienced at least 1 year 2 respectively. In younger than 5 n = 30), to 10 52), older 31), 57%, 81%, 94%...
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 investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Methods: Clinical data and peripheral blood DNA samples all BFNIE probands their family members were collected from Peking University First Hospital between December 2012 April 2016. phenotypes affected analyzed. Genomic was extracted standard protoco1. Mutations PRRT2 screened using Sanger sequencing. For that not detected by sequencing, candidate gene further...
Objective To summarize the clinical phenotype and genotype features of 3 children with progre-ssive myoclonic epilepsy (PME) caused by KCNC1 gene mutations, to review related literatures. Methods The mutations in Department Pediatrics, Peking University First Hospital from October 2016 January 2019 were analyzed.The 25 patients which had been reported internationally also collected analyzed. Results Three this study identified de novo 2 c. 959G>A (p.Arg320His) mutation, 1 child...
To determine the type and frequency of SCN1A deletions duplications among patients with Dravet syndrome (DS).For DS in which no mutations gene were detected by PCR-DNA sequencing, multiplex ligation-dependent probe amplification (MLPA).In 680 patients, 489 had identified sequencing. In 191 who negative for 15 (15/191, 7.9%) heterozygous or duplications, included 14 (14/15, 93.3%) 1 duplication. There 13 types mutations, including whole 3 partial 11 one patient. By testing parents, found to...