One of the important causes of developmental epileptic encephalopathy (DEE) is the mutation of ion channel genes, including the mutation of the CACNA1E gene. CACNA1E-related DEE cases were first reported in 2018.The mutation types include new missense mutations, nonsense mutations and frameshift mutations, but the correlation between mutation sites and types with the phenotype of DEE is not clear.This review aims to summarize the reported CACNA1E-related DEE cases, and explore the correlation between the clinical phenotype of CACNA1E-related DEE and gene mutation sites and mutation types.Meanwhile, possible pathogenesis of CACNA1E-related DEE and the progress of drug intervention were reviewed to provide references for the diagnosis and precise treatment of DEE.

Objective To improve the survival rate and life quality of peritoneal dialysis(PD)patients,we es-tablished a retraining model based on ADDIE model,including optimizing the content,form and frequency.Methods From January 1,2022 to May 3,2023,based on the 5 stages of ADDIE model,we investigated the needs of pa-tients,invited 55 experts in the peritoneal dialysis field to design the final draft of the retraining model through 2 rounds of Delphi expert consultations,and 23 peritoneal dialysis patients were preexperimented to evaluate and re-vise the retraining model.Results The questionnaire recovery rates of the 2 rounds of expert consultation were 100％and 96.36％,respectively.The coordination coefficients of the first-level catalog were 0.379 and 0.384,and the coordination coefficients of the second-level catalog were 0.446 and 0.427,respectively.The Chi-square test showed that P＜0.05,indicating statistical significance.The content of the retraining model included 4 sections,33 subdirectories and 9 training forms,which were combined online and offline.The training frequency was different due to the different contents,and the single content of a single training form was mainly 15 min.Conclusion The PD patient retraining model constructed in this study is scientific,reliable and innovative.Its content is easy to un-derstand and diverse in forms.The training duration and frequency are in line with the memory rule,and the eval-uation takes into account both process and result.