Thirteen New Patients of Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.

Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the gene have recently been defined as Houge-Janssens syndrome 1.

Effects of two chd2-knockout strains on the morphology and behavior in zebrafish.

The chromodomain helicase DNA binding domain 2 (CHD2) gene is an ATPase and a member of the SNF2-like family of helicase-related enzymes. CHD2 plays critical roles in human brain development and function, and homozygous mutation of Chd2 in mice results in perinatal lethality. To further elucidate the effects of chd2, we used CRISPR/Cas9 to create two chd2-knockout strains (fdu901, 11,979-11982delGGGT, and fdu902, 27350delG) in zebrafish.

Attention deficit hyperactivity disorder in children with epilepsy: a multicenter cross-sectional analysis in China.

Background: The diagnosis and treatment of attention deficit hyperactivity disorder (ADHD) comorbid with epilepsy have been insufficiently addressed in China. We conducted a study in China to investigate the current status, diagnosis, and treatment of ADHD in children to further our understanding of ADHD comorbid with epilepsy, strengthen its management, and improve patients' quality of life.

Methods: We carried out a multicenter cross-sectional survey of children with epilepsy across China between March 2022 and August 2022.

Clinical analysis of developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: A single tertiary care center experience in China.

Purpose: To analyze the electroclinical features of patients with developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (DEE/EE-SWAS) and study the efficacy of different therapies on seizure control, electroencephalogram (EEG) improvements of electrical status epilepticus during sleep (ESES), and cognition outcomes.

Methods: Patients with DEE/EE-SWAS who underwent at least one follow-up EEG 3 months after therapy were retrospectively enrolled. The demographic and clinical characteristics of the patients were analyzed.

PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.

Introduction: PIGW-related glycosylphosphatidylinositol deficiency is a rare disease that manifests heterogeneous clinical phenotypes.

Methods: We describe a patient with PIGW deficiency and summarize the clinical characteristics of the case. In addition, we conducted a literature review of previously reported patients with pathogenic variants of PIGW.

Telemedicine during the COVID-19 epidemic improves outcomes in children with tuberous sclerosis complex: A 1206 visits retrospective cohort study.

Aims: To evaluate the benefits of telemedicine in children with tuberous sclerosis complex during the COVID-19 pandemic.

Methods: A retrospective cohort study was conducted, comparing telemedicine and in-person visits within the timeframe spanning from June 1, 2021, to June 1, 2022. Disparities in demographics, emergency visits, hospitalizations, adverse effects (AEs) associated with sirolimus, and the incidence of drug-refractory epilepsy (DRE) between telehealth and in-person care were assessed.

Etiologies and clinical characteristics of acute ataxia in a single national children's medical center.

Objective: To analyze etiologic factors of pediatric acute ataxia and to identify the severity of its underlying causes for urgent medical intervention.

Methods: Clinical data of children diagnosed with acute ataxia between December 2015 and December 2021 from one national medical center were analyzed retrospectively.

Results: A total of 99 children (59 boys, 40 girls), median age at disease onset 55 (range: 12-168) months, were enrolled.

[Clinical and genetic analysis of a child with Cerebral creatine deficiency syndrome due to variant of SLC6A8 gene].

Objective: To explore the clinical features and genetic variant in a child with Cerebral creatine deficiency syndrome (CCDS).

Methods: A child who had presented at the Affiliated Children's Hospital of Fudan University on March 5, 2021 was selected as the study subject. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing.

Long-term effectiveness and seizure recurrence risk factors of ketogenic diet for pediatric refractory epilepsy: Experience from a tertiary care center in China.

Objective: This study aimed to assess the long-term effectiveness and seizure recurrence risk in children with drug-resistant epilepsy who achieved seizure freedom on a ketogenic diet (KD). Predictors associated with seizure recurrence were also evaluated.

Methods: Patients with drug-resistant epilepsy who received KD therapy for at least 3 months between May 2011 and April 2020 were included.

Long-term efficacy and safety of tacrolimus in young children with myasthenia gravis.

Objective: This study was performed to evaluate the efficacy and long-term safety of tacrolimus for young children with myasthenia gravis (MG).

Methods: Children with corticosteroids (CSs)-ineffective, CSs-dependent or CSs-intolerable MG treated with tacrolimus for at least one year were recruited. The Myasthenia Gravis Foundation of America (MGFA) clinical classification and MGFA post-intervention status (MGFA-PIS) were used to evaluate before tacrolimus administration and at the last visit, respectively.

Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

Objective: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism.

Identification of a novel splicing variant in the phosphatidylinositol glycan class S () gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report.

Background: Glycosylphosphatidylinositols (GPI) are glycolipids that act as membrane anchors of many cell surface proteins. The phosphatidylinositol glycan class S () gene encodes an essential component of the multi-subunit, membrane-bound, GPI transamidase that comprises 4 other proteins including PIGK, GPAA1, PIGT, and PIGU. To date, 13 patients with variants have been identified with developmental delay, seizures, and hypotonia, and only one canonical splicing variant has been reported.

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.

Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study, we report twelve unrelated individuals with variants using next-generation sequencing.

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report.

Background: Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of the corpus callosum is underdevelopment or thinness of the corpus callosum. SMA and callosal hypoplasia are relatively rare, and there is limited information sharing the diagnosis and treatment for SMA patients with callosal hypoplasia.

Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.

Background: There is a large population of people with spinal muscular atrophy (SMA) in China, and new disease-modifying therapies have become available recently. However, comprehensive data on the management and profile of treatment-naive SMA patients in China are still lacking.

Methods: As a retrospective study, a large cohort of treatment-naive patients with clinical and genetic diagnoses of 5q SMA were enrolled, ranging from neonatal to 18 years old, from the Neurology Department of Children's Hospital of Fudan University between January 2013 and December 2020.

Unrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study.

Objective: To analyze the efficiency of unrelated umbilical cord blood transplantation (UCBT) in the treatment of hereditary leukodystrophy following busulfan- and cyclophosphamide-based myeloablative chemotherapy.

Methods: A retrospective study was performed in patients with hereditary leukodystrophy who underwent UCBT after myeloablative chemotherapy between April 2015 and March 2020.

Results: The study cohort included 12 pediatric patients (ten males), nine with cerebral adrenoleukodystrophy (ALD) and three with juvenile globoid cell leukodystrophy (GLD).

Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.

Objective: Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order to identify treatment targets.

Methods: We conducted whole-exome sequencing of patients with myoclonic atonic epilepsy (MAE) and characterized the seizure phenotypes and EEG patterns.

A Hybrid Expert System for Individualized Quantification of Electrical Status Epilepticus During Sleep Using Biogeography-Based Optimization.

Electrical status epilepticus during sleep (ESES) is an epileptic encephalopathy in children with complex clinical manifestations. It is accompanied by specific electroencephalography (EEG) patterns of continuous spike and slow-waves. Quantifying such EEG patterns is critical to the diagnosis of ESES.

Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex.

Aim: To assess whether prenatal diagnosis and early intervention are beneficial for developmental outcomes and epilepsy prognosis in individuals with tuberous sclerosis complex (TSC).

Method: This retrospective study originated from a single-centre TSC-specific cohort. We enrolled 273 individuals (138 males, 145 females; 2 years-7 years 6 months, mean 4 years 5 months, SD 1 year 6 months) with definitive TSC who completed TSC1/TSC2 genetic testing and were followed up to 2 years of age.

EMD-WOG-2DCNN based EEG signal processing for Rolandic seizure classification.

Approximately 65 million people have epilepsy around the world. Recognition of epilepsy types is the basis to determine the treatment method and predict the prognosis in epilepsy patients. Childhood benign epilepsy with centrotemporal spikes (BECTS) or benign Rolandic epilepsy is the most common focal epilepsy in children, accounting for 15-20% of childhood epilepsies.

Clinical characteristics, disease course, and outcomes of paediatric patients with myelin oligodendrocyte glycoprotein-Ab associated disease: A retrospective clinical study.

Objective: To delineate the outcomes of paediatric patients with myelin oligodendrocyte glycoprotein antibody disease (MOGAD).

Methods: We retrospectively analyzed the clinical characteristics, treatment, and outcomes of 34 paediatric patients with MOGAD from July 2015 to January 2020.

Results: The median age at disease onset was 75.