supported by the National Natural Science Foundation of China(NSFC:81771517,81271422);the Key Project of the 14th Five-Year Plan of Educational Science in Henan Province(2021JKZD09);the Key Scientific and Technological Project in Henan Province(212102310654);the Henan Province Medical Science and Technology Key Project Jointly Constructed by Province and Ministry(SBGJ202102189);the Key R&D and Promotion Projects in Henan Province(222102310615);Natural Science Foundation of Henan Province(242300421307);the Tai-hang Scholar Research Fund from Xinxiang Medical University;and the Henan Collaborative Innovation Center of Prevention and Treatment of Mental Disorders,the Second Affiliated Hospital of Xinxiang Medical University(XTkf11).
Palmitoyl-protein thioesterase 1(PPT1)is a lysosomal depalmitoylation enzyme that mediates protein posttranslational modifications.Loss-of-function mutation of PPT1 causes a failure of the lysosomal degradation of pal...
supported by grants from the Shenzhen Health and Family Planning Commission(SZSM201812005);the Shenzhen Key Discipline Fund(SZXK033);the Shenzhen Science and Technology Plan Project(JCY20210324135211030).
Background In this study,we aimed to assess the efcacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome(IESS)and examine the factors infuencing the post-surgical outcomes.Meth...
Objective To explore the disease spectrum and corresponding clinical indicators of infantile cholestasis so as to provide a basis for the diagnosis of this type of disease at an early stage.Methods The clinical data w...
funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081);National Key Research and Development Program of China(No.2016YFC1000707).
Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adren...
Introduction: Infantile spinal muscular atrophy (ISA) is an autosomal recessive disease caused by primary degeneration of cells in the anterior horn of the spinal cord, leading to muscle weakness and hypotonia. Its in...
funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081).
Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile ep...
BACKGROUND Treatment of infantile-onset inflammatory bowel disease(IO-IBD)is often challenging due to its aggressive disease course and failure of standard therapies with a need for biologics.Secondary loss of respons...
Objective To observe the effect of acupuncture combined with infantile tuina on intestinal flora and its efficacy in children with tic disorders(TD),and to explore its mechanism.Methods A total of 15 childrenwith TD w...
This work was supported by the National Science Fund for Distinguished Young Scholars(81825021);the National Natural Science Foundation of China(81773707);the Youth Innovation Promotion Association of the Chinese Academy of Sciences(2020284);the Fund of Science and Technology Commission of Shanghai Municipality(19431906000).
De novo missense mutations in SCN8A gene encoding voltage-gated sodium channel NaV1.6 are linked to a severe form of early infantile epileptic encephalopathy named early infantile epileptic encephalopathy type13(EIEE1...