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Article
Open AccessFamilial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients
SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...
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Article
Open AccessFirst case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ...
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Article
Open AccessThe patterns of response of 11 regimens for infantile spasms
Infantile spasms (ISs) is a devastating form of an early infantile epileptic encephalopathy. The patterns of response of multiple regimens, and the difference in response rates for the cases who receive first-...
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Article
Myoloid-Related Protein 8, an Endogenous Ligand of Toll-Like Receptor 4, Is Involved in Epileptogenesis of Mesial Temporal Lobe Epilepsy Via Activation of the Nuclear Factor-κB Pathway in Astrocytes
The role of Toll-like receptor 4 (TLR4) in the activation of innate immunity has been extensively studied in the past several years. Here, we are the first to report that myeloid-related protein 8 (MRP8), an e...
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Article
Role of ventriculoperitoneal shunt surgery in grade IV tubercular meningitis with hydrocephalus
Hydrocephalus is a common complication of tuberculous meningitis (TBM) in children. The role of ventriculoperitoneal shunt (VPS) placement in grade IV patients is controversial. The aim of this study is to inv...
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Article
Open AccessProtein kinase C-α signals P115RhoGEF phosphorylation and RhoA activation in TNF-α-induced mouse brain microvascular endothelial cell barrier dysfunction
Tumor necrosis factor-α (TNF-α), a proinflammatory cytokine, is capable of activating the small GTPase RhoA, which in turn contributes to endothelial barrier dysfunction. However, the underlying signaling mechani...
