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Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
TLDR
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.
Long-term effects of seizures in neonatal rats on spatial learning ability and N-methyl-D-aspartate receptor expression in the brain.
TLDR
Recurrent seizures induced in neonatal rats might cause long-term spatial learning ability deficit and modify NR expression in the cerebral cortex and hippocampus of adult rats.
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus–Merzbacher-like disease
TLDR
GJA12 gene mutations in two Chinese PMLD patients are analyzed and a novel homozygous frameshift mutation p.P73fsX106, caused by paternal UPD for chromosome 1, was identified in patient 1 with PMLD.
High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
TLDR
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.
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
TLDR
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.
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
TLDR
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.
Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood.
TLDR
Most cases showed a stabilized or improved pattern after an acute or subacute onset, which is different from most other inherited metabolic diseases or leukodystrophies, and the number of genes involved in cavitating leukoencephalopathies is expanded to 22.
Long-term effects of neonatal seizures on subsequent N-methyl-d-aspartate receptor-1 and gamma-aminobutyric acid receptor A-α1 receptor expression in hippocampus of the Wistar rat
TLDR
It is suggested that recurrent or single prolonged seizures during the neonatal period may have long-term effects on the balance between excitatory NMDA system and inhibitory GABA system in hippocampus of rats.
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
TLDR
Physicians should not give up the discovery of disease-causing mutations before re-examining the WES data and clinical phenotype by themselves or by collaborating with bioinformatic experts in the genetic test centers, especially for patients with strongly suspected genetic disease whose initial WES result was "negative".
Alterations of NR2B and PSD-95 expression after early-life epileptiform discharges in developing neurons
TLDR
A decrease in expression of NR2B NMDAR sub unit and PSD‐95 is found shortly after insult, which may show that brief magnesium‐free media treatment of primary cultured rat cortical neurons, an in vitro model of seizure brain injury, has a major influence on the expression ofNR2B subunit and PSd‐95.
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