Chaperone therapy is a new concept of molecular therapeutic approach to protein misfolding diseases, particularly to lysosomal diseases. Initially we started molecular analysis of culture cells, model animals and patients with Fabry disease and G-gangliosidosis. Some mutant enzyme proteins did not express the catalytic activity because of unstable molecular structure in somatic cells. The small molecule compound (chaperone) corrected misfolding of the unstable mutant protein, resulting in restoration of the enzyme activity (chaperone therapy). This pathological molecular event was studied first in endogenous mutant enzymes. Then a similar molecular interaction was found between the chaperone and the exogenous protein supplied for enzyme replacement therapy (ERT) in Pompe disease. This new chaperone-ERT combination therapy will become another useful technology in order to expand the application of chaperone therapy to a wide range of lysosomal diseases. Thus, chaperone therapy is expected in future for stabilization and enhancement of exogenously supplied ERT enzymes as well as endogenous mutant enzymes.

Sevoflurane (Sev) exposure may provoke deleterious effects on cognitive function. This study explores the mechanism of long non-coding RNA growth arrest specific transcript 5 (LncRNA GAS5) in Sev-induced cognitive dysfunction in neonatal rats.

Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder characterized by severe, progressive muscle wasting. Viltolarsen, a formulation consisting of exon 53-skipping antisense oligonucleotides of the dystrophin gene, has been indicated for some patients with DMD. However, reports describing the efficacy and safety of viltolarsen treatment in patients with DMD, particularly those comparing patients receiving viltolarsen with age- and time-period-matched controls, are limited. This study aimed to confirm the safety and efficacy of viltolarsen treatment in patients with DMD.

Migraine, a common primary headache disorder, affects children and adolescents under 18, often bilateral and lasting 2-72  hours, affecting 7.7% of them.

Several studies reported a reduced rate of accesses to pediatric emergency department (ED) for seizures during COVID-19 pandemic. The aim of our study is to evaluate the attendance to pediatric ED for seizures, as well as the influence of seizure type and personal history of seizures on the rate of admissions during the pandemic period.

To investigate the clinical characteristics and management of plexiform neurofibromas (PNs) in Japanese children with neurofibromatosis 1 (NF1) in the beginning of a new era of treatment with mitogen-activated protein kinase/extracellular signal-regulated kinase kinase (MEK) inhibitor selumetinib.

Developmental coordination disorder (DCD) presents motor skill delays in early childhood and has been associated with later maladaptation, necessitating early intervention. However, research on the potential risk factors, particularly in preschool-aged children, remains scarce.

Quantitative EEG is frequently used to monitor children affected by acute encephalopathy (AE), with the expectation of providing comprehensive insights into continuous EEG monitoring. However, the potential of quantitative EEG for estimating outcomes in this context remains unclear. We sought reliable prognostic markers within the color density spectral array (CDSA) of the continuous EEG for AE-affected children undergoing therapeutic hypothermia (TH).

Cytoplasmic FMR1-interacting protein 2 (CYFIP2) is an evolutionarily conserved protein with a critical role in brain development and function. As a key component of the WAVE regulatory complex, CYFIP2 regulates actin cytoskeleton dynamics, essential for maintaining proper neuronal morphology and circuit formation. Recent studies have also shown that CYFIP2 interacts with various RNA-binding proteins, suggesting its involvement in mRNA processing and translation in neurons. Since 2018, de novo CYFIP2 variants have been identified in patients with neurodevelopmental disorders, particularly developmental and epileptic encephalopathy and West syndrome, characterized by early-onset intractable seizures, intellectual disability, microcephaly, and developmental delay. This review summarizes these CYFIP2 variants and examines their potential impact on the molecular functions of CYFIP2, focusing on its roles in regulating actin dynamics and mRNA processing/translation. Additionally, we review various Cyfip2 mouse models, highlighting the insights they offer into CYFIP2 function, dysfunction, and clinical relevance. Finally, we discuss future research directions aimed at better understanding CYFIP2-associated neurodevelopmental disorders and potential therapeutic strategies.

Seizures are commonly reported in patients with myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis (MOG-CCE). However, seizure management during the acute phase has not been established.

Buccal midazolam (buc MDL) is the first buccal mucosal delivery formulation applied for status epilepticus in Japan. Herein, we aimed to investigate the effectiveness and adverse events of buc MDL as a pre-hospital treatment for epileptic seizures in real-world clinical practice.

Post-operative complications of corpus callosotomy (CC) in children, prolonged hospitalization due to inactivity as acute disconnection syndrome is occasionally experienced. We aimed to clarify this issue and its risk factors with a hypothesis that electroencephalogram (EEG) findings as measures of functional lateralization may be among prognostic factors for post-operative recovery.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common encephalopathy syndrome among Japanese children. We report, for the first time, a case of AESD, in which magnetic resonance imaging (MRI) showed no diffusion abnormalities, but hyperperfusion was detected by arterial spin labelling (ASL).

Chorea is a common movement disorder in children, requiring thorough clinical assessment and appropriate tests for etiological diagnosis. Early identification of treatable conditions can lead to effective treatment, reducing morbidity and improving quality of life.

This study undertook neuropharmacological research on the clinical course of controlled medication discontinuation to guide practitioners who are considering stopping medications for youths with attention-deficit hyperactivity disorder (ADHD).

Cerebral adrenoleukodystrophy (CALD) can cause visual impairment, but early symptoms are often missed or misdiagnosed. The framework of cerebral visual impairment (CVI) distinguishes deficits in sensory detection ("lower order") from those of perception and interpretation ("higher order"). This study describes visual deficits in patients with CALD and higher order visual function assessed with a virtual reality (VR) interface combined with eye tracking.

Sleep plays an important role in children's behavior, emotional control, and cognitive development. There is a higher prevalence of sleep problems in children with neurodevelopmental disorders (NDDs) compared to those without disease. There are a few studies regarding sleep problems among Thai preschoolers with NDDs. This study examined sleep problems in preschoolers with NDDs, compared with typically developing children (TD), and studied the association between sleep problems and behavioral problems among preschoolers with NDDs.

To observe the efficacy, safety, and tolerability of perampanel (PER) as add-on therapy in children aged 4-18 years with epilepsy in a real-world environment.

Gut microbiota (GM), the "second genome," exerts influence on human health by impacting brain function through the gut-brain axis. This interaction involves various mechanisms, including immune regulation, metabolites, and neuronal pathways. The application of the next-generation sequencing technology provides a revolutionary tool for the study of GM, which contributes to a deeper comprehension of the GM-host relationship. Children with cerebral palsy (CP), a common neurological disorder in children, are more likely to develop epilepsy, which can exacerbate CP symptoms, particularly those related to cognitive impairment and gastrointestinal tract, such as constipation. The current study identified specific changes in the GM of children with CP accompanied by epilepsy. Furthermore, both diet and oral microbiota have the potential to influence the composition of the GM. Interventions with probiotics and dietary fiber based on GM can improve constipation and cognition, and this approach may be a potential therapeutic strategy.