1.Analysis of Animal Models of Retinitis Pigmentosa Based on Diagnostic Features of Chinese and Western Medicine
Xiaoyu LI ; Lina LIANG ; Jiefeng CHEN ; Xiaoxiao ZHU ; Yina QI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):198-203
Retinitis pigmentosa (RP) is the most common hereditary blinding eye disease in clinical practice, with the pathogenesis remaining unclear. Patients experience progressive apoptosis of retinal photoreceptor cells, accompanied by degeneration of retinal pigment epithelium (RPE) cells. Current Western medical treatments mainly focus on gene therapy and stem cell transplantation, showing limited efficacy. In contrast, clinical observations have confirmed the therapeutic effects of traditional Chinese medicine (TCM) treatments. Establishing an RP animal model that aligns with the diagnostic features of both TCM and Western medicine could help combine the strengths of both approaches, thereby broadening the treatment options for RP. This study categorizes and summarizes the existing RP animal models in terms of classification, types, inheritance patterns, and alignment with clinical manifestations. It is found that current RP models are primarily derived from natural animal models such as RD mice and RCS rats, transgenic animal models like RPE-65 knockout mice and rhodopsin gene knockout mice, and chemically induced models such as those created by monochromatic light exposure or N-ethyl-N-nitrosourea (ENU) administration. These three categories of models focus more on detecting RP-related histopathological, molecular biological, and cellular immunological indicators, but offer limited observation of the overall characteristics of the disease and lack insight into syndrome differentiation. Although RP is a congenital genetic disease, its progression is influenced by acquired factors such as environment, constitution, emotions, and care. Current models do not fully capture the characteristics of this disease. Therefore, establishing an RP animal model based on the diagnostic features of both TCM and Western medicine will have significant implications for future experimental and clinical research.
2.Analysis of Animal Models of Retinitis Pigmentosa Based on Diagnostic Features of Chinese and Western Medicine
Xiaoyu LI ; Lina LIANG ; Jiefeng CHEN ; Xiaoxiao ZHU ; Yina QI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):198-203
Retinitis pigmentosa (RP) is the most common hereditary blinding eye disease in clinical practice, with the pathogenesis remaining unclear. Patients experience progressive apoptosis of retinal photoreceptor cells, accompanied by degeneration of retinal pigment epithelium (RPE) cells. Current Western medical treatments mainly focus on gene therapy and stem cell transplantation, showing limited efficacy. In contrast, clinical observations have confirmed the therapeutic effects of traditional Chinese medicine (TCM) treatments. Establishing an RP animal model that aligns with the diagnostic features of both TCM and Western medicine could help combine the strengths of both approaches, thereby broadening the treatment options for RP. This study categorizes and summarizes the existing RP animal models in terms of classification, types, inheritance patterns, and alignment with clinical manifestations. It is found that current RP models are primarily derived from natural animal models such as RD mice and RCS rats, transgenic animal models like RPE-65 knockout mice and rhodopsin gene knockout mice, and chemically induced models such as those created by monochromatic light exposure or N-ethyl-N-nitrosourea (ENU) administration. These three categories of models focus more on detecting RP-related histopathological, molecular biological, and cellular immunological indicators, but offer limited observation of the overall characteristics of the disease and lack insight into syndrome differentiation. Although RP is a congenital genetic disease, its progression is influenced by acquired factors such as environment, constitution, emotions, and care. Current models do not fully capture the characteristics of this disease. Therefore, establishing an RP animal model based on the diagnostic features of both TCM and Western medicine will have significant implications for future experimental and clinical research.
3.Clinical efficacy of Wenshen Chushi Decoction combined with LIPUS on erectile dysfunction with renal deficiency and phlegm-dampness syndrome
Wen-xiong ZHU ; Yi-feng YUAN ; Tao LIU ; Bo LI ; Liu-ya LONG ; Qi-hua CHEN ; Ju-qiao HE
National Journal of Andrology 2025;31(6):519-525
Objective:To explore the clinical efficacy of Wenshen Chushi Decoction combined with low intensity pulsed ultra-sound(LIPUS)on erectile dysfunction(ED)caused by renal deficiency and phlegm-dampness syndrome.Methods:One hundred and twenty ED patients were included from the Department of Andrology in the First Hospital of Hunan University of Traditional Chinese Medicine.The patients in control group were treated with Wenshen Chushi Decoction.While the patients in observation group were trea-ted with Wenshen Chushi Decoction combined with LIPUS for 8 consecutive weeks.After the treatment,the efficacy was evaluated using the International Index of Erectile Function-5(IIEF-5)score,Penile Flow Index(PFI),Traditional Chinese Medicine Syndrome Score,Self-Rating Depression Scale(SDS)score,and Self-Rating Anxiety Scale(SAS)score.Safety was also observed.And the ef-ficacy was followed up 4 weeks after the end of treatment.Results:Fifty-seven cases were enrolled into control group finally with 55 cases in the treatment group.After the treatment,all the patients in both of groups showed an improvement in IIEF-5 scores(P<0.01).Compared with the control group(19.09±2.22),the IIEF-5 score in observation group(20.42±2.39)increased signifi-cantly(P<0.01).After the treatment,the scores of PFI,TCM syndrome and SDS in both groups decreased(P<0.01,P<0.05,P<0.01).Compared with the control group([3.77±1.21],[9.91±1.71]and[39.88±2.63]points),the observation group([2.92±1.08],[4.78±1.45],and[34.51±2.09]points)showed a more significant decrease(P<0.01).There was no significant difference in total effective rate between the two groups(P>0.05).During follow-up,the IIEF-5 scores of both groups of patients were higher than those before(P<0.05,P<0.01),and the observation group score was higher than that in the control group([17.15±3.37]vs[13.63±1.96],P<0.01).No adverse reaction and abnormality of indicators occurred in both of two groups.Conclusion:Wenshen Chushi Decoction has a significant therapeutic effect on ED caused by renal deficiency and phlegm-dampness syndrome.It can not only improve the quality of erection,but also improve the physical and mental symptoms associated with ED,which makes therapeutic effect lasting longer.
4.Anti-inflammatory and anti-apoptotic effects and mechanism of total flavonoids of hawthorn leaves on rat intestinal epithelial cells
Kai WANG ; Pei LIU ; Kexin QI ; Jingyi WANG ; Chenlu SUN ; Danning SHI ; Hongyue CHEN ; Daoling HE ; Yan ZHU ; Ling GAN
Chinese Journal of Veterinary Science 2025;45(7):1450-1457
This study aims to investigate the anti-inflammatory and anti-apoptotic effects of total flavonoids of hawthorn leaves(TFHL)on lipopolysaccharide(LPS)-induced inflammatory injury in rat intestinal epithelial(IEC-6)cells,as well as the underlying mechanisms.An in vitro inflam-mation model was first established by treating IEC-6 cells with lipopolysaccharide(LPS).IEC-6 cells were then incubated with three concentrations of TFHL for 24 h prior to a further 24 h LPS treatment.RT-qPCR was used to quantify mRNA levels of the inflammatory genes COX-2 and iN-OS,while Western blotting was used to assess protein levels of the apoptotic markers Bax,cleaved Caspase-3,Bcl-2,and the JNK/p-JNK signaling pathway.Finally,cells were pretreated with TFHL and/or the JNK inhibitor SP600125 for 24 h before LPS exposure for 24 h,in order to evaluate the combined effects of TFHL and SP600125 on LPS-induced inflammatory cytokine expression and apoptotic protein levels in IEC-6 cells.The results showed that,compared with the LPS group,the mRNA level of COX-2 and iNOS in the 2.5,5.0,10.0 mg/L TFHL group and the Bax and Caspase-3 protein levels decreased significantly(P<0.01),and the Bcl-2 protein level was significantly higher(P<0.01),p-JNK protein level and p-JNK/JNK ratio decreased significantly(P<0.01);compared with the LPS group,the COX-2 and iNOS mRNA levels of the TFHL+LPS group de-creased significantly(P<0.01),Bax,and Caspase-3 protein levels decreased significantly(P<0.01),and the level of Bcl-2 protein increased significantly(P<0.05);compared with the LPS group,the COX-2 and iNOS mRNA levels of the TFHL+SP600125 group decreased significantly(P<0.01),Bax and Caspase-3 protein levels decreased significantly(P<0.01),and Bcl-2 protein level increased significantly(P<0.01).These findings indicate that TFHL exerts anti-inflammato-ry and anti-apoptotic effects in LPS-challenged IEC-6 cells by inhibiting the JNK signaling path-way.
5.Isolation,identification,and biological characterization of enterotoxigenic Escherichia coli from a South China tiger
Jing-ru XU ; Zhi-hao ZHU ; Yu-qi LI ; Si-si FAN ; Ya-li KANG ; Yu-bin ZHUO ; Ling-shan HUANG ; Shu-qi QIU ; XUE-YUXI ; Xiao-ping WU ; Yu-ting LIAO ; Wei-ye LIN ; Xiao-ziyi XIAO ; Xue-jin LI ; Teng-teng CHEN ; Xi-pan LIN ; Kai-xiong LIN ; Ke-wei FAN
Chinese Journal of Zoonoses 2025;41(6):567-573
This study was aimed at identifying the pathogenic bacteria responsible for the death of a young tiger at the Fujian Meihua Mountain South China Tiger Breeding Research Institute.Tissue samples from the lungs,liver,and intestines of the deceased tiger were collected,and the bacteria were cultured inasterile environment.The bacterial strains were characterized according to their morphological and molecular biological properties,including assessment of virulence genes and antibiotic resistance genes,mouse lethality tests,and antibiotic susceptibility evaluations.A predominant bacterial strain isolated from the liver of the deceased tiger was identified as enterotoxigenic Escherichia coli(ETEC)strain Tiger22513F.Phylogenetic analysis of the 16S rRNA gene revealed that the Tiger22513F strain exhibited close genetic similarity to the reference strain ETEC(MF919609.1),with 99.9%nucleotide similarity,and resided on the same evolutionary branch.The Tiger22513F strain contained 11 antibiotic resistance genes(tetA,sul1,sul3,cmlA,floR,blaTEM,blaSHV,blaCMY-2,qnrA,qnrS,and qnrD)along with five virulence genes(VT1,fyuA,tsh,iucD,and ST).Mouse lethality tests indicated significant pathogenicity toward mice,affecting primarily the lungs,liver,and intestines.Antibiotic susceptibility testing demonstrated that this strain exhibited resistance to various classes of beta-lactam antibiotics,as well as quinolones and aminoglycosides.This investigation successfully isolated a multi-drug resistant enterotoxigenic Escherichia coli strain with pronounced pathogenicity from the liver of a deceased tiger;thus providing valuable scientific insights for clinical diagnosis,as well as prevention and control measures,against ETEC infections in South China tigers.
6.To evaluate the clinical efficacy of"dynamic and static combination"of shaking,pulling and poking ma-nipulation of lateral malleolus combined with brace fixation in the treatment of Hepple type Ⅰ-Ⅲ OLT
Shulong WANG ; Dongxiao LI ; Huan LIANG ; Ruizheng ZHU ; Junde WU ; Xuyue PAN ; Zhanhua MA ; Yinze QI ; Feng ZHAO ; Ayong HUANG ; Zhimin YANG ; Zhaojun CHEN
The Journal of Practical Medicine 2025;41(14):2210-2216
Objective To investigate the clinical efficacy of the"dynamic and static combination"approach in the treatment of Hepple Ⅰ-Ⅲ type osteochondral lesions of the talus(OLT),utilizing external ankle shaking,pulling,and poking manipulations in conjunction with ankle brace fixation.Methods A total of 82 patients diagnosed with OLT,who sought treatment at four hospitals between June 2022 and December 2023,were included in the study.Both the experimental and control groups received ankle immobilization using braces through-out the treatment period.The control group was administered Voltaren Emulgel topically twice daily(morning and evening),with each treatment course lasting 30 days,for a total of one course.The experimental group received additional therapeutic intervention involving shaking,pulling,and poking manipulations,conducted twice weekly,with the same duration and number of treatment courses as the control group.Follow-up assessments were scheduled at 2 weeks,4 weeks,and 2 months post-treatment.Outcome measures included the pain rating index(PRI),visual analogue scale(VAS)for pain intensity,current pain intensity(PPI),American Orthopaedic Foot & Ankle Society(AOFAS)ankle and hindfoot scores,proprioceptive function,and the size of OLT.Results During the longitudinal assessment conducted at 2-week,4-week,and follow-up intervals,the experimental group exhibited superior clinical outcomes compared to the control group,with statistically significant decreases in PRI,PPI,and AOFAS scores(all P<0.05).VAS scores showed progressive improvement over time,with significant intergroup differences observed at both the 4-week and follow-up assessments(P<0.05).Biomechanical analysis performed post-intervention indicated improved kinematic repositioning accuracy in the experimental group,as reflected by significantly reduced active-passive error angles(P<0.05).Importantly,measurements of OLT area revealed notable therapeutic effects in the experimental group(P<0.05),whereas no statistically significant changes were observed in the control group throughout the study period(all P>0.05).Conclusions Under the guidance of the"dynamic and static combination"concept,the integration of shaking,pulling,and poking manipu-lation with conventional Western medicine-based conservative treatment for OLT demonstrates more pronounced advantages in alleviating pain,improving ankle joint function,restoring proprioception,facilitating lesion recovery,and enhancing overall quality of life.
7.Pathophysiological classification and clinical characteristics of hyperuricemia
Le YAN ; Shuang LIU ; Zhiwei CAO ; Ronger GU ; Shaoling YANG ; Hang SUN ; Qi CHEN ; Cuiling ZHU ; Haibing CHEN
Chinese Journal of Endocrinology and Metabolism 2025;41(8):627-633
Objective:To explore the clinical and biochemical characteristics of patients with hyperuricemia according to different pathophysiological subtypes. This may facilitate rapid identification of each subtype in clinical settings and provide evidence for personalized urate-lowering treatment.Methods:Patients diagnosed with hyperuricemia at the Department of Endocrinology and Metabolism, Tenth People′s Hospital of Tongji University between October 2015 and January 2024 were included. Based on 24-h urinary uric acid excretion(UUE) and the fractional excretion of uric acid(FEUA), patients were classified into four subtypes: renal uric acid underexcretion type(RUE), renal uric acid overload type(ROL), combined type and renal normal type. Clinical and biochemical variables-including sex, age, BMI, smoking history, comorbidities, blood glucose, and serum uric acid-were analyzed. Binary logistic regression was used to identify factors associated with each subtype.Results:Among 2 073 patients with hyperuricemia, 55.8% were RUE type, 6.9% were ROL type, 31.3% were combined type and 6.0% were renal normal type. RUE type had lower blood glucose levels and fewer cases of diabetes [ OR=0.685(95% CI 0.478-0.980), P<0.05]. ROL type showed a higher incidence of tophi, positively correlated with smoking history [ OR=1.672(95% CI 1.009-2.771), P<0.05], and negatively correlated with serum uric acid levels [ OR=0.994(95% CI 0.990-0.998), P=0.001]. Combined type had the youngest onset age, shortest disease duration, and the fewest comorbidities, and was associated with higher BMI [ OR=1.035(95% CI 1.001-1.070), P<0.05]. Renal normal type had the oldest age of onset, the highest proportion of female patients and comorbidities, and was associated with lower serum uric acid levels[ OR=0.994(95% CI 0.989-0.998), P=0.007], higher BMI[ OR=1.064(95% CI 1.003-1.129), P<0.05], and increased tophi incidence[ OR=2.261(95% CI 1.206-4.237), P=0.011]. Conclusion:Each pathophysiological subtype of hyperuricemia exhibits distinct clinical and biochemical characteristics, which may serve as useful references for subtype identification and personalized management in clinical practice.
8.A test-negative study on the protective effectiveness of acellular pertussis vaccine in children aged 2 months to 6 years based on propensity score matching method
Yao ZHU ; Yang ZHOU ; Xiaohua QI ; Xuejiao PAN ; Linling DING ; Fuxing CHEN ; Kai GAO ; Yu HU ; Hanqing HE
Chinese Journal of Preventive Medicine 2025;59(11):1834-1839
Objective:To evaluate the protective effectiveness (VE) of the acellular pertussis vaccine (aPV) against pertussis in children aged 2 months to 6 years.Methods:A test-negative case-control study was conducted among children aged 2 months to 6 years who sought medical care for cough and underwent pertussis nucleic acid testing at sentinel surveillance hospitals in Zhejiang Province in 2024. Cases were defined as those with positive pertussis nucleic acid test results, while controls were test-negative individuals matched 1∶1 based on propensity scores using the caliper matching method. Conditional logistic regression models were used to calculate odds ratios ( ORs) and VEs. Results:Among the 658 participants, 31.76% (209 cases) tested positive for pertussis. After propensity score matching, 203 cases and 203 controls were included in the analysis. The VE of 1-2, 3, and 4 doses of aPV against pertussis was 52.46% (95% CI:-39.82%-83.84%), 65.22% (95% CI: 6.86%-87.02%), and 72.21% (95% CI: 34.33%-88.24%), respectively. For pertussis-related hospitalization, the VE of 1-3 and 4 doses was 80.95% (95% CI:31.38%-94.71%) and 86.79% (95% CI: 51.89%-96.37%). The VE for those who completed 4 doses of vaccination and had intervals of less than 2 years, 2 years, 3 years, and 4 years or more after vaccination were 91.15% (95% CI: 67.61%-97.58%), 84.70% (95% CI: 43.71%-95.84%),56.23% (95% CI:-47.58%-87.02%), and 49.92% (95% CI:-83.74%-86.35%), respectively. Conclusion:The VE of aPV against pertussis in children aged 2 months to 6 years increases with the number of doses administered, and it is more effective in preventing hospitalization due to pertussis. The VE declines rapidly over time after the last dose. It is recommended to follow the new pertussis immunization program for timely and full vaccination.
9.Risk factors for lymph node metastasis after RARP in high-risk prostate cancer patients and construction of a nomogram
Qi CAI ; Ziyan AN ; Zhoujie YE ; Jinpeng SHAO ; Kaipeng BI ; Zheng WANG ; Guanqiu CHEN ; Jie ZHU ; Guangfu CHEN ; Shaoxi NIU ; Baojun WANG ; Xin MA ; Jiangping GAO ; Weijun FU
Chinese Journal of Urology 2025;46(8):593-599
Objective:This study investigated the independent risk factors for lymph node metastasis(LNM)in high-risk prostate cancer(HRPCa)patients undergoing robot-assisted radical prostatectomy(RARP),and constructed a nomogram model based on clinical data to improve the accuracy and clinical practicality of preoperative prediction of LNM.Methods:A retrospective analysis was conducted on the clinical data of 218 HRPCa patients who received RARP treatment at the First Medical Center of the PLA General Hospital from January 2020 to March 2025 as the modeling group. The age of the modeling group was(66.91±6.94)years old. 75 cases(34.40%)had a history of smoking,and 48 cases(22.02%)had a history of drinking. There were a body mass index(BMI)of 25.55(23.58,27.00)kg/m 2,a total prostate-specific antigen(tPSA)of 20.59(10.42,30.61)ng/ml,a free prostate-specific antigen(fPSA)of 1.87(1.04,3.26)ng/ml,a prostate volume(PV)of(41.19±21.00)ml,a prostate-specific antigen density(PSAD)of 0.52(0.30,0.84)ng/ml 2. Among the patients,60 cases(27.52%)had a preoperative biopsy Gleason score >8,and the percentage of positive biopsy cores(PPBC)was 50%(31%,80%). Thirty-one patients(14.22%)were staged clinically as >T 2c. The diagnostic criteria for high-risk prostate cancer(HRPCa)were defined as meeting any one of the following:PSA >20 ng/ml,Gleason score on prostate biopsy ≥8,or clinical stage ≥T 3. Among the 218 patients in the modeling cohort,67 cases(30.73%)met two of the criteria,and 7 cases(3.21%)met all three criteria. All 218 patients underwent RARP,and based on postoperative pathology,they were divided into the LNM group and the non-LNM group. The relationship between the number of diagnostic criteria met and the occurrence of LNM was analyzed. An external validation cohort included 42 HRPCa patients who underwent RARP at the Third,Fifth Medical Centers of the PLA General Hospital between January 2023 and May 2025. Their mean age was(66.79±5.92)years. Eighteen patients(42.86%)had a smoking history,and nine(21.43%)had a history of alcohol consumption. The median BMI was 26.00(23.80,27.13)kg/m 2. The median tPSA level was 17.34(8.97,27.30)ng/ml. The median fPSA was 1.51(0.83,2.52)ng/ml,and the median PV was(35.57 ± 15.25)ml. The median PSAD was 0.57(0.23,0.87)ng/ml 2,and the median PPBC was 58%(36%,71%). Three patients(7.14%)had a clinical stage >T 2c,and 12 patients(28.57%)had a Gleason score >8 on preoperative biopsy. Univariate and multivariate binary logistic regression analyses were used to identify independent risk factors for LNM,and a nomogram model was constructed based on these factors. The predictive performance of the model was evaluated using receiver operating characteristic(ROC)curves and calibration plots,and the model was validated in the external cohort. Result:According to postoperative pathology,45 patients were classified into the LNM group,and 173 into the non-LNM group. The probability of LNM increased proportionally with the number of diagnostic criteria met for HRPCa(meeting two criteria: OR = 4.762,95% CI 2.323-9.761, P < 0.01;meeting three criteria: OR = 10.667,95% CI 2.187-52.025, P=0.003). Binary logistic regression analysis revealed that age( OR=0.913,95% CI 0.859-0.971, P = 0.004),tPSA( OR=1.039,95% CI 1.018-1.061, P<0.01),PPBC( OR = 5.656,95% CI 1.101-29.056, P = 0.038),and clinical T stage(T 2c stage: OR=2.945,95% CI 0.888-9.769, P=0.077;>T 2c stage OR = 18.351,95% CI 4.790-70.306, P < 0.01)were independent risk factors for postoperative LNM in HRPCa patients after RARP. The ROC curve of the nomogram model based on these factors showed an area under the curve(AUC)of 0.853(95% CI 0.790-0.917). In the external validation cohort,the nomogram achieved an AUC of 0.743(95% CI 0.556-0.929). The calibration plots demonstrated good agreement between the predicted probabilities and actual observations. Conclusions:Age,tPSA,PPBC,and clinical T stage were independent predictors of postoperative LNM in HRPCa patients undergoing RARP. The greater the number of HRPCa diagnostic criteria met,the higher the likelihood of postoperative LNM. The nomogram developed in this study could effectively predict the risk of LNM in HRPCa patients after RARP.
10.Clinical and genetic characteristics of SCN2A gene related developmental delay
Jialu GU ; Shaofang SHANGGUAN ; Jianhong WANG ; Jiayi LI ; Hua XIE ; Xia QU ; Nan PENG ; Xi WANG ; Qi XU ; Yike ZHU ; Xinghui LI ; Xuefeng SUN ; Xiaoli CHEN ; Lin WANG
Chinese Journal of Preventive Medicine 2025;59(5):667-676
Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.

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