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Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy.Methods: We conducted a pedigree analysis of 260 Chinese patients with epilepsy onset during infancy or childhood by whole exome sequencing (WES).Results: Of the 260 probands analyzed, a genetic diagnosis was established in 135 patients. One-hundred eighty-eight phenotypes were detected in those 135 positive/likely positive patients, 106 patients had more than two phenotypes, and 67 patients had more than three phenotypes. A total of 142 variants of 81 genes were detected among the positive/likely positive patients. Among these 142 variants, of which 87 of 66 genes were novel.Conclusion: Our findings extend the variant spectrum of genes related to epilepsy. Our results will be useful for genetic testing and counseling for patients with epilepsy.

Summary: Long‐term repopulating haematopoietic stem cells (LT‐HSCs) have the ability to reconstitute the entire haematopoietic system following transplantation permanently. Despite great achievements in HSC transplantation, the limited transplantable HSC number, especially LT‐HSCs, remains critical for successful transplantation and broader applications. In this study, we established a defined serum‐free culture system for in vitro expansion of LT‐HSCs. This culture system (E1) expanded LT‐HSCs from umbilical cord blood, human mobilization peripheral blood and bone marrow. These E1‐expanded HSCs reconstituted the haematopoietic and immune systems in primary and secondary transplanted mice in a short time. Better haematopoietic reconstitution was observed in secondary xenografted mice. Moreover, we obtained the comprehensive expression profile and cellular components of LT‐HSCs from umbilical cord blood. Our study provides a valuable tool for LT‐HSC research and may improve clinical applications of HSCs. [ABSTRACT FROM AUTHOR]