Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.

Background: Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.

A long journey to treat epilepsy with the gut microbiota.

Epilepsy is a common neurological disorder that affects approximately 10.5 million children worldwide. Approximately 33% of affected patients exhibit resistance to all available antiseizure medications, but the underlying mechanisms are unknown and there is no effective treatment.

Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent missense variant p.R327H in Chinese children.

gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated the clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.

Astrocyte-derived complement C3 is activated in patients with tuberous sclerosis complex and mediates immune injury: an integrated bioinformatics analysis.

Background: Tuberous sclerosis complex (TSC) is a genetic disorder associated with multiple neurological manifestations. Cortical tubers (CT) are recognized as the hallmark brain lesions of TSC and contribute to neurological and psychiatric symptoms. To understand the molecular mechanism of neuropsychiatric features of TSC, the differentially expressed genes (DEGs) in CT from patients with TSC and those in normal cortex (NC) from participants acting as healthy controls were investigated.

The Role of Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association.

To prove microtubule associated serine/threonine kinase 3 () gene is associated with neurodevelopmental diseases (NDD) and the genotype-phenotype correlation. Trio exome sequencing (trio ES) was performed on four NDD trios. Bioinformatic analysis was conducted based on large-scale genome sequencing data and human brain transcriptomic data.

A Ketogenic Diet and the Treatment of Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is characterized by stereotyped behavior and deficits in communication and social interaction. There are no curative treatments for children with ASD. The ketogenic diet (KD) is a high-fat, appropriate-protein, and low-carbohydrate diet that mimics the fasting state of the body and is proven beneficial in drug-resistant epilepsy and some other brain diseases.

Pediatric Autoimmune Encephalitis and Its Relationship With Infection.

Autoimmune encephalitis (AE) is an increasingly recognized inflammatory disorder of the central nervous system and is most often characterized by antibodies against intracellular and neuronal surface antigens. AE is a devastating disease that may result in developmental delay or regression in children. However, the pathogenesis of AE is not clear, and immune system disorders after infection likely play an important role in AE.

Role of endoplasmic reticulum stress-associated gene TRIB3 in rats following kainic acid-induced seizures.

TRIB3 (tribblespseudokinase 3) is a pseudokinase that affects several cellular functions, and its expression is increased during endoplasmic reticulum stress (ER stress). How recurrent seizures affect the regulation of TRIB3 in the hippocampus during epilepsy remains unclear. In this study, we investigated the role of TRIB3 in the kainic acid (KA)-induced seizures and related brain injury.

Characterization of Intestinal Microbiota and Probiotics Treatment in Children With Autism Spectrum Disorders in China.

Most previous studies have found that human intestinal microbiota affect the symptoms of autism spectrum disorder (ASD), especially gastrointestinal (GI) symptoms, but regarding this, there is limited data of non-western ethnicity. Probiotics can reconstitute the host intestinal microbiota and strengthen gastrointestinal function, however, clinical data proving the effect of probiotics treatment on ASD is lacking. This study explored the significant differences between ASD and neurotypical (NT), and the improvement of applied behavior analysis (ABA) training in combination with probiotics, vs.

Corrigendum: Prevalence of Anemia and Its Associated Risk Factors Among 6-Months-Old Infants in Beijing.

[This corrects the article DOI: 10.3389/fped.2019.

Prevalence of Anemia and Its Associated Risk Factors Among 6-Months-Old Infants in Beijing.

The worldwide prevalence of anemia is ~24.8%. Iron deficiency anemia is common in children and women and associated with sensory, motor, cognitive, language, and socioemotional deficits.

Inhibition of TRIB3 Protects Against Neurotoxic Injury Induced by Kainic Acid in Rats.

Epilepsy refers to a group of neurological disorders of varying etiologies characterized by recurrent seizures, resulting in brain dysfunction. Endoplasmic reticulum (ER) stress is highly activated in the process of epilepsy-related brain injury. However, the mechanisms by which ER stress triggers neuronal apoptosis remain to be fully elucidated.

Recombinant Human Erythropoietin Protects Against Hippocampal Damage in Developing Rats with Seizures by Modulating Autophagy via the S6 Protein in a Time-Dependent Manner.

Epilepsy is among the most common neurological disorders. Recurrent seizures result in neuronal death, cognitive deficits and intellectual disabilities in children. Currently, recombinant human erythropoietin (rhEPO) is considered to play a neuroprotective role in nervous system disorders.

Recombinant human erythropoietin protects against brain injury through blunting the mTORC1 pathway in the developing brains of rats with seizures.

Aims: Recurrent seizures can result in neuronal death, cognitive deficits and intellectual disability, which causes devastating damage in children. Recombinant human erythropoietin (rhEPO) is considered a neuroprotective factor in many nervous system diseases. However, the precise mechanisms through which rhEPO exerts its neuroprotective effects on epilepsy remain unknown.

The Influence of Different Caregivers on Infant Growth and Development in China.

Objective: An increasing number of parents in China ask grandparents or babysitters to care for their children. Modern parents are often the only child in their family because of China's One-Child Policy and thus may lack interaction with siblings. Accordingly, the present study aimed to explore whether different caregivers affect the physical and development of infants in China.

Endogenous sulfur dioxide regulates hippocampal neuron apoptosis in developing epileptic rats and is associated with the PERK signaling pathway.

Epilepsy is among the most common neurological diseases in children. Recurrent seizures can result in hippocampal damage and seriously impair learning and memory functions in children. However, the mechanisms underlying epilepsy-related brain injury are unclear.

Alterations of apoptosis and autophagy in developing brain of rats with epilepsy: Changes in LC3, P62, Beclin-1 and Bcl-2 levels.

Current studies have indicated that apoptotic and autophagic signaling pathways are triggered by epileptic seizures, but the precise roles of these processes in epilepsy-induced neuronal loss remain unclear. Identifying a concrete molecular mechanism may help researchers develop relevant epilepsy therapies that are more effective than existing treatments. Autophagy is a type of conserved degradation that contributes to cellular homeostasis.

Fragile X Syndrome: Prevalence, Treatment, and Prevention in China.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. Although FXS has been studied for several decades, there is relatively little basic science or clinical research being performed on FXS in China. Indeed, there is a large gap between China and Western countries in the FXS field.

Autism Symptoms in Fragile X Syndrome.

Fragile X syndrome (FXS) is recognized as the most common genetic cause of intellectual disability and autism spectrum disorder (ASD). Although symptoms of ASD are frequently observed in patients with FXS, researchers have not yet clearly determined whether the symptoms in patients with FXS differ from the symptoms in patients without ASD or nonsyndromic ASD. Behavioral similarities and differences between FXS and ASD are important to improve our understanding of the causes and correlations of ASD with FXS.

The Gut Microbiota and Autism Spectrum Disorders.

Gastrointestinal (GI) symptoms are a common comorbidity in patients with autism spectrum disorder (ASD), but the underlying mechanisms are unknown. Many studies have shown alterations in the composition of the fecal flora and metabolic products of the gut microbiome in patients with ASD. The gut microbiota influences brain development and behaviors through the neuroendocrine, neuroimmune and autonomic nervous systems.

Reduced AKT phosphorylation contributes to endoplasmic reticulum stress-mediated hippocampal neuronal apoptosis in rat recurrent febrile seizure.

Aims: Febrile seizure (FS) is one of the most common types of seizures in childhood. Recurrent FS can result in hippocampus injury and thus impair learning capacity and memory, while the underlying molecular mechanisms are still elusive. Studies indicated that endoplasmic reticulum stress (ERS), involved in many diseases including some neurodegenerative diseases, can increase the expression of tribbles-related protein 3 (TRIB3), which thus inhibits the activity of AKT.

Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesis.

Congenital heart disease (CHD) is one of most common birth defects, causing fetal loss and death in newborn all over the world. Atrial and ventricular septal defects were the most common CHD subtypes in most districts. During the past decades, several genes were identified to control atrial septum formation, and mutations of these genes can cause cardiac septation defects.