Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
Four deleted subtelomeric regions and one duplicated region found in this study were smaller than any previously reported, which will be helpful for further defining the candidate dosage sensitive gene associated with DD/MR.
High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
It is suggested that 22q13 deletions may be a more frequent cause for Chinese ID patients than previously thought, and the SHANK3 gene is involved in the neurite development.
Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood.
Long-term effects of seizures in neonatal rats on spatial learning ability and N-methyl-D-aspartate receptor expression in the brain.
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Varied yields exist in DD/ID patients with different phenotypic presentation, and the presence of comorbid conditions can be among factors to consider when planning CMA.
Germline de novo variants in CSNK2B in Chinese patients with epilepsy
Evidence is provided that variants in CS NK2B are associated with epilepsy with or without ID/DD, and CSNK2B-related epilepsy is relatively easy to be controlled.
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus–Merzbacher-like disease
Alterations of NR2B and PSD-95 expression after early-life epileptiform discharges in developing neurons
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy
It is revealed that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE and a computational model suggested that lower intracellular magnesium concentration enhanced synaptic N-methyl-D-aspartate receptor (NMDAR) currents.
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Targeted next generation sequencing of 454 genes is an effective test strategy for patients with unexplained intellectual disability/developmental delay and findings further delineate the corresponding phenotypes, expand the mutation spectrum and support the involvement of PTPRD in the disease.