Objective:To discuss the improved methods for the isolation and culture of primary chondrocytes from the neonatal rats,and to establish an efficient and economical in vitro chondrocyte culture system.Methods:The primary chondrocytes were isolated from the joints of neonatal rats and divided into overnight digestion(OD)group and rapid digestion(RD)group for separation.The chondrocytes in OD group were digested overnight by type Ⅱ collagenase,while the chondrocytes in RD group were separated by the combination of pre-digestion with physical and chemical digestion methods.The chondrocytes were cultured in modified media containing 0％(blank group 1),1％,2％,4％,and 10％fetal bovine serum(FBS),0(blank group 2),0.1,0.2,0.4,0.8,1.0,and 2.0 g·L-1 vitamin C(VC),and 0(blank group 3),0.5,1.0,2.0,4.0,8.0,10.0 μg·L-1 poly(lactic-co-glycolic acid)(PLGA)nanoparticles.The media containing different concentrations of FBS,VC,and PLGA were mixed with Dulbecco's modified Eagle's medium/nutrient mixture F-12(DMEM/F12),and were divided into related groups based on the concentrations of ingredients.Cell counter was used to count the chondrocytes in various groups and the survival rates and diameters of the chondrocytes in various groups were detected;Toluidine blue staining was used to detect the morphology of the chondrocytes in various groups;CCK-8 method was used to detect the proliferative activities of the chondrocytes in various groups;cell adhesion assay was used to detect the adhesion rates of the chondrocytes in various groups;Hoechst/propidium iodide(PI)staining was used to detect the apoptosis of the chondrocytes in various groups;MTT assay was used to detect the proliferation activities of the chondrocytes in various groups after treated with modified media.The cells were divided into DMEM/F12+10％FBS group,DMEM/F12+1％FBS group,and DMEM/F12+1％FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group.Real-time fluorescence quantitative PCR(RT-qPCR)method was used to detect the expression levels of sex-determining region Y-box 9(SOX9),collagen type Ⅱ alpha 1 chain(Col2A1),collagen type X alpha 1 chain(Col10A1),and matrix metallopeptidase 13(MMP13)mRNAs in the chondrocytes in various groups after treated with modified media;immunofluorescence staining was used to detect the expressions of type Ⅱ collagen(COL Ⅱ)and SOX9 in the chondrocytes in various groups after treated with modified media.Results:The survival rate of primary chondrocytes in OD group was lower than that in RD group,and the average cell diameter was larger than that in RD group.The primary chondrocytes in OD group were larger and spindle-shaped,and most cells exhibited pseudopodia;in RD group,the primary chondrocytes were smaller,mostly rhomboid in shape,with only a portion of the cells showing pseudopodia.The Toluidine blue staining results showed significant coloration in both groups,but the digestion time of the chondrocytes in RD group was shorter,and compared with OD group,the actual culture time of the chondrocytes was reduced by 9-13 h,and more immature morphology of the primary chondrocytes were observed.The proliferation activity of the primary chondrocytes in OD group was slow at 24 h of culture but increased at 48 h of culture,and the proliferation activity of the primary chondrocytes was significantly higher at 48 h of culture compared with 12 h of culture(P＜0.01).Compared with 12 h of culture,the proliferation rates of the primary chondrocytes in RD group were increased at 24 and 48 h of culture(P＜0.01).At 24 and 48 h of culture,compared with OD group,the proliferation rates of the primary chondrocytes in RD group were increased(P＜0.05).The number of apoptotic chondrocytes in RD group was lower than that in OD group,and no necrotic chondrocytes were observed in either group.The proliferation activities of chondrocytes of the rats were increased with the rising of FBS concentration in the culture medium.Compared with blank group 1,the proliferation activities of chondrocytes of the rats after treated with culture mediums containing 1％,2％,4％,and 10％FBS were significantly increased(P＜0.05).Compared with blank group 2,the proliferative activities of chondrocytes of the rats after treated with culture mediums containing 0.2-1.0 g·L-1 VC were significantly increased(P＜0.05),and the highest proliferation activity was found when the concentration of VC was 0.4 g·L-1(P＜0.01).Compared with blank group 3,the proliferation activities of chondrocytes of the rats after treated with culture mediums containing 1-4 μg·L-1 PLGA were significantly increased(P＜0.05),and the highest proliferation activity was found after treated with culture medium containing 1 μg·L-1 PLGA(P＜0.05).Compared with DMEM/F12+10％FBS group,the expression levels of SOX9 mRNA and Col2A1 mRNA in the chondrocytes in DMEM/F12+1％FBS group were significantly increased(P＜0.05 or P＜0.01).Compared with DMEM/F12+10％FBS group,the expression levels of SOX9 mRNA and Col2A1 mRNA in the chondrocytes in DMEM/F12+1％FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group were significantly increased(P＜0.01).The immunofluorescence staining results showed that the green fluorescence signal of COL Ⅱ and the red fluorescence signal of SOX9 were observed in some chondrocytes in DMEM/F12+10％FBS group under fluorescence microscope,and the fluorescence intensity was weak.In DMEM/F12+1％FBS group,most chondrocytes exhibited COL Ⅱ green fluorescence signal and SOX9 red fluorescence signal,and the fluorescence intensity was significantly stronger than that in DMEM/F12+10％FBS group.In DMEM/F12+1％FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group,the COLⅡ green fluorescence signal and SOX9 red fluorescence signal were found in all the chondrocytes,and the fluorescence intensity was significantly higher than those in DMEM/F12+10％FBS and DMEM/F12+1％FBS groups.The expression levels of COLⅡ and SOX9 proteins in the chondrocytes in DMEM/F12+1％FBS group were significantly higher than those in DMEM/F12+10％FBS group,and the expression levels of COL Ⅱ and SOX9 proteins in the chondrocytes in DMEM/F12+1％FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group were significantly higher than those in DMEM/F12+10％FBS group.Conclusion:The improved methods for the isolation and culture of primary chondrocytes of the rats can overcome the shortcomings of traditional methods,shorten the isolation time of primary chondrocytes,and improve the quality of in vitro culture of primary chondrocytes.

Objective:To investigate the diagnostic method and value of echocardiography in screening right patent ductus arteriosus(PDA) of infants.Methods:This was a prospective study.Thirty-one infants with right PDA diagnosed by ultrasound and confirmed by prenatal ultrasonography, electronic computed tomography angiography, angiocardiography and/or surgery in Hebei Children′s Hospital from April 2014 to May 2022 were collected as research subjects, and the association of right ductus arteriosus with aortic arch anomalies and complex cardiac malformations were summarized. The diagnostic method and value of ultrasonic screening were summed up.Results:Of the 31 cases, 30 cases were correctly diagnosed by ultrasound and 1 case was misdiagnosed, who was a left aortic arch descending to the right, a crossover variation of the right and left pulmonary arteries, and a rightward displacement of the ductus arteriosus. Among these cases diagnosed correctly, 27 cases (including 24 cases with right aortic arch and 3 cases with left aortic arch) presented that ductus arteriosus was open and its ostium of pulmonary artery end was located in the proximal right pulmonary artery in views of parasternal short-axis view of great vessels at cardiac base with the combination of two dimensions and color Doppler flow imaging. Other 3 cases of right aortic arch were all single ventricle with transposition of the great artery. Due to the parallel relationship of the two great arteries, the standard parasternal short-axis view of great vessels could not be obtained, and the right ductus arteriosus was found in the high parasternal views.In all of the 27 cases with right aortic arch and right ductus arteriosus, high parasternal views showed that one end of the ductus arteriosus was connected to the right aortic arch isthmus and the other end was connected to the right pulmonary artery. In all of the 3 cases with left aortic arch and right ductus arteriosus, the high parasternal views showed that one end of the ductus arteriosus was connected to the right subclavian artery and the other end was connected to the right pulmonary artery. Among the 27 cases with right aortic arch, 16 cases were accompanied with mirror image branches, 9 cases of which had complex cardiac malformations; 10 cases were associated with aberrant left subclavian artery, 1 case of which had complex cardiac malformations; 1 case was with isolated left subclavian artery, and without complex cardiac malformations. All 3 cases of left aortic arch were accompanied with isolated right subclavian artery and none of them were associated with complex cardiac malformations. Clinical outcomes of 30 cases with right PDA: 14 cases underwent ductus arteriosus ligation due to thick ductus or other heart malformations. In other 16 cases, 4 cases were closed spontaneously, 9 cases had persistent small ductus arteriosus, and 3 cases were lost to follow-up.Conclusions:Right ductus arteriosus is mostly related to the right aortic arch, and those with mirror image branches are prone to complex cardiac malformations; cases of left aortic arch with right ductus arteriosus are tend to accompany isolated right subclavian artery. Ultrasound has an important application in the screening and diagnosis of right PDA.

More than 85% of patients with uveal melanoma (UM) carry a GNAQ or GNA11 mutation at a hotspot codon (Q209) that encodes G protein α subunit q/11 polypeptides (Gα_q/11). GNAQ/11 relies on palmitoylation for membrane association and signal transduction. Despite the palmitoylation of GNAQ/11 was discovered long before, its implication in UM remains unclear. Here, results of palmitoylation-targeted mutagenesis and chemical interference approaches revealed that the loss of GNAQ/11 palmitoylation substantially affected tumor cell proliferation and survival in UM cells. Palmitoylation inhibition through the mutation of palmitoylation sites suppressed GNAQ/11^Q209L-induced malignant transformation in NIH3T3 cells. Importantly, the palmitoylation-deficient oncogenic GNAQ/11 failed to rescue the cell death initiated by the knock down of endogenous GNAQ/11 oncogenes in UM cells, which are much more dependent on Gα_q/11 signaling for cell survival and proliferation than other melanoma cells without GNAQ/11 mutations. Furthermore, the palmitoylation inhibitor, 2-bromopalmitate, also specifically disrupted Gα_q/11 downstream signaling by interfering with the MAPK pathway and BCL2 survival pathway in GNAQ/11-mutant UM cells and showed a notable synergistic effect when applied in combination with the BCL2 inhibitor, ABT-199, in vitro. The findings validate that GNAQ/11 palmitoylation plays a critical role in UM and may serve as a promising therapeutic target for GNAQ/11-driven UM.
Humans ; Mice ; Animals ; Lipoylation ; NIH 3T3 Cells ; Uveal Neoplasms/genetics* ; Melanoma/genetics* ; Cell Proliferation ; Proto-Oncogene Proteins c-bcl-2 ; GTP-Binding Protein alpha Subunits, Gq-G11/genetics*

Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.

Objective:To explore the effects of dietary phosphate restriction education on serum phosphorus level, dietary phosphate intake and the knowledge of hyperphosphatemia in maintenance hemodialysis (MHD) patients.Methods:This study was a retrospective cohort study. A total of 116 hemodialysis patients in Huashan Hospital, Huadong Hospital and Tongji Hospital from October 2019 to December 2020 were enrolled in this study. They were divided into short-term group (84 cases) and long-term group (32 cases). The short-term group did not receive education or received education≤60 minutes. Meanwhile, the long-term group received education>60 minutes. Serum phosphorus level, dietary phosphate intake and knowledge of hyperphosphatemia were compared between the two groups after 4 weeks.Results:At baseline, age [64(56, 69) years old vs 65(60, 73) years old, Z=-1.493, P=0.136], the proportion of males [58.3%(49/84) vs 56.3%(18/32), χ2=0.041, P=0.839], dialysis age [55(26, 130) months vs 53(20, 132) months, Z=-0.062, P=0.951], body mass index, diabetes history, single-pool Kt/V, proportion of calctriol used, blood calcium, blood phosphorus, intact parathyroid hormone and dietary protein, dietary phosphorus and dietary phosphorus protein ratio had no statistical significance between short-term group and long-term group (all P>0.05). Adequate dietary phosphate restriction education reduced dietary phosphate intake [777.98(653.81, 943.16) mg/d vs 896.56(801.51, 1 015.51) mg/d, Z=-2.903, P=0.004], phosphate/protein ratio [13.16(11.52, 14.21) mg/g vs 15.27(13.31, 17.48) mg/g, Z=-3.929, P<0.001] and serum phosphorus level [(1.42±0.37) mmol/L vs (1.85±0.44) mmol/L, t=4.984, P<0.001]. Meanwhile, such education significantly improved achievement rate of serum phosphorus (62.5% vs 41.7%, χ2=4.034, P=0.045). In addition, patients in long-term group answered more questions correctly (completely correct plus partially correct) about the causes (93.8% vs 72.6%, χ2=6.120, P=0.013), poor prognosis (78.1% vs 52.4%, χ2=6.372, P=0.012) of hyperphosphatemia as well as the types of food with high phosphate (65.6% vs 52.4%, χ2=1.650, P=0.199). Conclusion:Adequate dietary phosphate restriction education reduces serum phosphorus level and dietary phosphate intake, and improves the knowledge of hyperphosphatemia in MHD patients.

Objective:To investigate the feasibility of "twelve-section ultrasonic screening diagnosis method" in screening for neonatal complex congenital heart disease (CHD) in primary hospitals.Methods:This is a prospective study. A total of 71 580 newborns were screened for CHD using the "twelve-section ultrasonic screening diagnosis method" from four pilot units in Hebei province, which were Bo'ai Hospital of Huanghua Development Zone, Traditional Chinese Medicine Hospital of Fengning County, Maternity & Child Healthcare Hospital of Tang Country, and Maternity & Child Healthcare Hospital of Rongcheng Country, from November 2015 to December 2019. Another 262 children with CHD were enrolled, including 39 with complex CHD. These cases received ultrasonography at four pilot units above and then were transferred to CHD Screening Diagnosis and Treatment Center of Hebei Children's Hospital (our center) prior to the implementation of "twelve-section ultrasonic screening diagnosis method" from June 2012 to June 2014, who were all confirmed by surgery. Set the diagnosis results of our center as the gold standard, the sensitivity, specificity, and diagnostic consistency rate in screening for complex CHD cases were calculated. Receiver operating characteristic (ROC) analysis and Chi-square test were used to compare and analyze the sensitivity for screening neonatal complex CHD before and after implementing the method. The screening results of complex CHD after implementing the method between the pilot units and our center as well as between the four pilot units were compared and analyzed using Chi-square test. Results:A total of 553 (0.77%) CHD cases were detected by the "twelve-section ultrasound screening diagnosis method", including 66 cases of complex CHD and 487 cases simple CHD. Among the cases screened using the method, there were three false negative cases (one case with total anomalous pulmonary venous drainage, one with abnormal coronary artery originating from pulmonary artery, and one with atresia of distal to the left subclavian artery, aortic arch and left aortic arch of double-arch), one false positive case (false echo loss of aortopulmonary septal that was misdiagnosed as aortopulmonary septal defect), five cases of misdiagnosis (one common pulmonary venous atresia case that was misdiagnosed as total anomalous pulmonary venous drainage, one persistent stenosis of the fifth aortic arch that was misdiagnosed as coarctation of aorta, one pulmonary artery sling that was misdiagnosed as absence of left pulmonary artery, one severe coarctation of aorta that was misdiagnosed as interruption of aortic arch, and one aortic isthmus atresia that was misdiagnosed as coarctation of aorta), and all were complex CHD cases. A total of 68 cases (12.3%) of complex CHD were confirmed by our center. The overall sensitivity, specificity, and diagnostic consistency rate of screening were 95.6% (65/68), 99.8% (484/485), and 86.8% (59/68), respectively and the area under ROC curve was 0.98. Before the implementation, the overall sensitivity, specificity, and diagnostic coincidence rates of ultrasonic screening for complex CHD were 69.2%(27/39), 95.5%(213/223), and 61.5% (24/39), respectively, and the area under ROC curve was 0.82. The sensitivity of complex CHD screening was significantly increased after implementing the method ( χ2=14.28, P<0.05). There was no significant statistical significance in the sensitivity for screening complex CHD after the implementation between the pilots and our center or between the four pilots (all P>0.05). Conclusions:"Twelve-section ultrasonic screening diagnosis method" is suitable for the screening of neonatal complex CHD in hospitals at the county level. However patients with some special types of complex CHD are recommended to be transferred for a more accurate diagnosis.

Objective:To explore the echocardiographic characteristics of isolated brachiocephalic artery branches, and to analyze the reason of missed diagnosis and misdiagnosis in order to improve the diagnostic accuracy.Methods:Echocardiographic features of isolated subclavian artery and brachibrachial trunk confirmed by operation or CT angiography (CTA) or digital subtraction angiography (DSA) were retrospectively analyzed in Hebei Children′s Hospital from May 2017 to July 2021. Related literatures of other rare types of isolated brachiocephalic artery branches retrieved in PubMed were reviewed, and the echocardiographic characteristics of such vascular malformations were summarized.Results:A total of 4 children with isolated brachiocephalic artery branches were included. Echocardiography correctly diagnosed isolated brachiocebrachial trunk in 1 case and missed or misdiagnosis in 3 cases, including isolated subclavian artery was missed in 1 case, isolated subclavian artery was misdiagnosed as aberrant subclavian artery in 1 case and patent ductus arteriosus in 1 case. A total of 105 cases of isolated brachiocephalic artery branches were reviewed, including isolated brachiocephalic artery in 31 cases (53.3%), isolated common carotid artery in 15 cases (29.5%), isolated common carotid artery in 15 cases (14.3%) and isolated internal carotid artery in 3 cases (2.9%). The characteristic of echocardiography was that the brachiocephalic branch of the aortic arch was disconnected from the aortic arch, often via the ductus arteriosus or directly connected to the bifurcation of the pulmonary artery.Conclusions:Isolated brachiocephalic artery branches have certain characteristic echocardiographic features and these kinds of vascular malformations are accompanied by different degrees of stealing blood phenomenon. Careful tracing of the origin of brachiocephalic artery branches and combined with cervical vascular ultrasound when necessary can improve the diagnosis rate of isolated brachiocephalic artery branch lesions.

Objective:To explore the impacts of workload and expected income index on the salary satisfaction of medical staff at public hospitals.Methods:From October 15th to November 10th, 2020, the salary system reform monitoring questionnaire for medical staff in public hospitals formulated by development center for medical science & technology National Health Commission was adopted to evaluate the workload, actual income, expected income and salary satisfaction of 120 pilot public hospitals for salary reforms in 21 cities (prefectures) in Sichuan province. The questionnaire survey was conducted among 8 651 medical staff of these hospitals. Descriptive analysis was carried out on the results of the questionnaire; the ratio of expected income to actual income, namely the expected income index, was used to reflect the relative difference between expected income and actual income; χ2 test and binary logistic regression were used to analyze the influencing factors of salary satisfaction. Results:8 133 valid questionnaires were recovered. The average working time per week of the survey subjects was 48.17 hours, and the average longest continuous working time was 15.30 hours; 85.63% (6 964) of the medical staff had expected income index greater than 1. The average score of salary satisfaction was 58.22 points and 57.72% (4 694) of the medical staff were dissatisfied. The longer the continuous working time (16-72 h versus 8-9 h, OR=0.755), the greater the expected income index (>1 versus =1, OR=0.522), and the lower the salary satisfaction. Conclusions:The workload of medical staff was heavy, the salary failed to meet the expected level, the sense of satisfaction was low. It is suggested to monitor in real time and dynamically adjust the workload of medical staff in combination with the actual situation, formulate the salary level in line with the technical labor value of different medical staff, and establish a comprehensive performance appraisal mechanism.

Objective:To study the clinical and genetics features of two families with dentatorubral-pallido-luysian atrophy (DRPLA), and to summarize the correlation between genotypes and phenotypes.Methods:The peripheral blood, clinical data and auxiliary examination results of probands and related members in 2 families with hereditary epilepsy and ataxia were collected from July 2018 to March 2019 in Peking University First Hospital.By whole exome sequencing and detecting the cytosine-adenine-guanine (CAG) repeats with capillary electrophoresis and fragment analysis, the genetic testing was conducted on the probands and their family members.The clinical and genetic characteristics of all affected members in the 2 families were also analyzed.Results:Two families were diagnosed with DRPLA.All 11 patients presented with psychomotor retardation, and 7 of them had seizures (including myoclonus, focal seizures and generalized tonic-clonic seizures, etc.). There were significant differences in clinical manifestations among different patients in the same family, and the filial generation had seizures at an earlier age with a more severe phenotype than the parental generation.The youngest onset age was 2 years old, and the largest was 45 years old.Five cases had seizures in childhood.Of the 11 patients, 5 cases were deceased, and the cause of death included seizure attacks, sudden unexpected death in epilepsy (SUDEP) and disease progression.The number of CAG repeat times in the fifth exon of the ATN1 gene were found abnormal in 6 surviving patients.The grandfather of the proband in pedigree 2 had normal clinical manifestations, but he also showed abnormal CAG repeats in the fifth exon of the ATN1 gene, which might be an intermediate allele. Conclusions:DRPLA is mainly featured by epilepsy, ataxia, psychomotor retardation and anticipation in clinical.This disease is rare in children with seizures as the first symptom, and has poor prognosis.An early diagnosis can facilitate genetic counseling.

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 May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic and neuroimaging characteristics were analyzed.Results:A total of 141 neonatal-onset epilepsy patients with identified gene variants were enrolled, including 76 males and 65 females and involving 33 epilepsy genes. Top five genes were KCNQ2 (56 cases), SCN2A (25 cases), STXBP1 (9 cases), CDKL5 (8 cases) and KCNT1 (6 cases), accounting for 73.8% (104/141). The age of seizure onset was 3(1-28) days of age, 71.6% (101/141) were within 1 week of age. The age of genetic diagnosis was 4 months (1 month to 13 years) of age. A total of 130 patients presented focal seizures; 47 patients presented epileptic spasms. Other seizure types included generalized tonic-clonic seizures, clonic seizures, myoclonic seizures, tonic seizures and absence seizures. Fifty-eight patients experienced multiple seizure types. The results of video-electroencephlogram (VEEG) were abnormal in 127 patients and in 62 patients clinical seizures were captured. Global developmental delay was presented in 122 patients. Epilepsy syndromes were diagnosed in 59 patients. Thirteen patients were diagnosed as Ohtahara syndrome (OS), 9 as epilepsy of infancy with migrating focal seizures (EIMFS), 17 as West syndrome (WS), 4 as OS developed to WS, 9 as benign neonatal epilepsy (BNE), 2 as benign familiar neonatal-infantile epilepsy (BFNIE), 2 as benign infantile epilepsy (BIE) and 3 as benign familial infantile epilepsy (BFIE). Sixty-seven patients were diagnosed as unclassified early infantile epileptic encephalopathy (EIEE), 13 patients could not be diagnosed as any epilepsy syndrome, and 2 patients were diagnosed as pyridoxine-dependent epilepsy. Forty-six patients had abnormal neuroimaging including cortical atrophy, corpus callosum dysplasia and cerebellar atrophy, involving 19 genes.Conclusions:Neonatal-onset epilepsy is related to many different genes. Seizure onset age of most patients is within one week after birth. Focal seizures and epileptic spasms are more common. Some patients show abnormal neuroimaging.