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Article
Open AccessSurgical treatment of pediatric intractable frontal lobe epilepsy due to malformation of cortical development
Malformation of cortical development (MCD) is a common cause of intractable epilepsy in children. In this study, the effectiveness of frontal lobe epilepsy (FLE) surgery in children with intractable epilepsy d...
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Article
Open AccessClinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy
Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to s...
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Article
Open AccessVagus nerve stimulation for pediatric patients with intractable epilepsy between 3 and 6 years of age: study protocol for a double-blind, randomized control trial
Recent clinical observations have reported the potential benefit of vagus nerve stimulation (VNS) as an adjunctive therapy for pediatric epilepsy. Preliminary evidence suggests that VNS treatment is effective ...
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Article
Pneumocystis Pneumonia during Rituximab Treatment in Children with Autoimmune Nerve System Diseases
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Article
Open AccessUpregulation of HMGB1-TLR4 inflammatory pathway in focal cortical dysplasia type II
We attempted to determine whether the inflammatory pathway HMGB1-TLR4 and the downstream pro-inflammatory cytokines is upregulated in focal cortical dysplasia (FCD) type II and whether there is a correlation b...
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Article
Open AccessCNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens
Rare copy number variations (CNVs) are a known genetic etiology in neurodevelopmental disorders (NDD). Comprehensive CNV analysis was performed in 287 Chinese children with mental retardation and/or developmen...
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Article
Open AccessFragile X syndrome screening in Chinese children with unknown intellectual developmental disorder
Fragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainlan...
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Article
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic generalized epilepsies (IGEs), the epilepsy-associated gene(s) in this region is/are sti...
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Article
Open AccessSubmicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR). Fine map** of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing...
