ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus.

Aim: To expand the phenotypic spectrum of ADGRL1 and explore the correlation between epilepsy and the ADGRL1 genotype.

Method: We performed whole-exome sequencing in a cohort of 115 families (including 195 males and 150 females) with familial febrile seizure or epilepsy with unexplained aetiology. The damaging effects of variants was predicted using protein modelling and multiple in silico tools.

Cushing's syndrome caused by adrenocortical oncocytoma: A case report.

Adrenal cortical eosinophilic adenoma usually presents as non-functional adrenal tumor but may lead to Cushing's syndrome in patients. The present article reports a patient with Cushing's syndrome caused by right adrenocortical oncocytoma. The patient was treated in Urology Department of Wuchuan People's Hospital (Zunyi, China) in November 2022 because of hirsutism, weight gain and hypertension.

Only anti-GM4 antibody positivity in a Chinese girl with overlapping MFS/GBS: a case report.

Background: Guillain-Barré syndrome (GBS), as the most common cause of acute flaccid paralysis worldwide, is considered a part of a clinical spectrum in which discrete, complete, or incomplete forms of GBS and overlapping syndromes lie on the basis of their clinical features. The term overlapping Miller Fisher syndrome (MFS)/GBS is used when patients with MFS also suffer from progressive motor weakness of the limbs. Anti-ganglioside GQ1b has been specifically associated with MFS and ophthalmoplegia.

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.

Background: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive.

Case Presentation: We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.

The increase of Nrf2 m6A modification induced by FTO downregulation promotes hippocampal neuron injury and aggravates the progression of epilepsy in a rat model.

Epilepsy is a common chronic neurological disorder characterized by widespread neuronal death. The purpose of this study was to investigate the role of nuclear factor erythroid 2-related factor 2 (Nrf2) m6A methylation in epilepsy. To create epileptic models, the rats were given Lithium chloride and pilocarpine, and isolated primary rat hippocampal neurons were cultured in an Mg2 -free medium.

Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.

Aims: Etiology of the majority patients with idiopathic partial epilepsy (IPE) remains elusive. We thus screened the potential disease-associated variants in the patients with IPE.

Methods: Trios-based whole exome sequencing was performed in a cohort of 320 patients with IPE.

Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.

Purpose: Genotype-phenotypic correlation of KCNH1 variant remains elusive. This study aimed to expand the phenotypic spectrum of KCNH1 and explore the correlations between epilepsy and molecular sub-regional locations.

Methods: We performed whole-exome sequencing in a cohort of 98 patients with familiar febrile seizure (FS) or epilepsy with unexplained etiologies.

Abnormalities of hemispheric specialization in drug-naïve and drug-receiving self-limited epilepsy with centrotemporal spikes.

Purpose: Self-limited epilepsy with centrotemporal spikes (SLECTS) is a pediatric benign epilepsy but often accompanied by subsequent (in adulthood) functional changes such as language, which are thought to have distinct areas of hemispheric lateralization and functional differentiation. This study aimed to explore hemispheric specialization measured by resting-state functional magnetic resonance imaging (rs-fMRI) functional connectivity in drug-naïve and drug-receiving SLECTS.

Methods: Hemispheric specialization was quantified in three groups of children, including 21 drug-naïve patients (DNP) with SLECTS, 34 drug-receiving patients (DRP) with SLECTS and 36 demographically matched typical development (TD).

Weakness in both lower limbs for 1 week and blepharoptosis for 3 days in a boy aged 1 year and 7 months.

A boy, aged 1 year and 7 months, was hospitalized due to weakness in both lower limbs and blepharoptosis, which showed progressive aggravation and developed into irregular breathing. Neurological examinations showed lethargy, blepharoptosis, grade 4 muscle strength of both upper limbs, grade 3 muscle strength of both lower limbs, and disappearance of tendon reflex. Laboratory tests revealed albuminocytological dissociation in cerebrospinal fluid, disappearance of H reflex, and positive serum anti-GD1b IgG.

[Progressive psychomotor regression for 2.5 years in a boy aged 5 years].

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities.

Clinical Characteristics and Prognosis of Antibody-Negative Autoimmune Encephalitis in Children: A Single-Center Retrospective Study.

Background: Autoimmune encephalitis (AE) is a group of immune-mediated brain diseases. However, new diagnostic criteria for AE in children indicate that partial pediatric patients with AE may be diagnosed without evidence of positive autoantibodies. Therefore, the clinical characteristics and prognosis of children with antibody-negative but probable AE require further investigation.

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.

Background: Mutations in PIGN, resulting in a glycosylphosphatidylinositol (GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reported a patient with PIGN mutation leading to developmental and epileptic encephalopathy and PNKD, to expand upon the genotype-phenotype correlation of PIGN.

Comparison of Clinical Characteristics Among COVID-19 and Non-COVID-19 Pediatric Pneumonias: A Multicenter Cross-Sectional Study.

Background: The pandemic of Coronavirus Disease 2019 (COVID-19) brings new challenges for pediatricians, especially in the differentiation with non-COVID-19 pneumonia in the peak season of pneumonia. We aimed to compare the clinical characteristics of pediatric patients with COVID-19 and other respiratory pathogens infected pneumonias.

Methods: We conducted a multi-center, cross-sectional study of pediatric inpatients in China.

[Fever for 2 months and disturbance of consciousness for 1 week in a preschool-aged girl].

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome (ROHHADS) is a rare multi-system disease, and delayed diagnosis and treatment may lead to catastrophic cardiopulmonary complications. As far as we know, no patient with ROHHADS has been reported in China, and this article reports a child with ROHHADS to improve the awareness of this disease among clinicians. A girl, aged 3 years, had the clinical manifestations of rapid weight gain, fever, disturbance of consciousness, and convulsion.

Surface-based morphometry study of the brain in benign childhood epilepsy with centrotemporal spikes.

Background: The study aimed to explore cortical morphology in benign childhood epilepsy with centrotemporal spikes (BECTS) and the relationship between cortical characteristics and age of onset and intelligence quotient (IQ).

Methods: Cortical morphometry with surface-based morphometry (SBM) was used to compare changes in cortical thickness, gyrification, sulcal depth, and fractal dimension of the cerebral cortex between 25 BECTS patients and 20 healthy controls (HCs) with two-sample -tests [P<0.05, family-wise error (FWE) corrected].

Impact of Brain Functional Network Properties on Intelligence in Children and Adolescents with Focal Epilepsy: A Resting-state MRI Study.

Rationale And Objective: Epilepsy is a common pediatric disease that often leads to cognitive and intellectual impairments. Here, we explore the reorganized functional networks in children and adolescents with focal epilepsy (CAFE) and analyze the relationship between network reorganization and intellectual deficits to reveal the underlying link between them.

Materials And Methods: Fifty-four CAFE (6-16 years old; right-handed) and 42 well-matched healthy controls were recruited.

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.

Background: Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). Clinically, the disorder is classified as one of two forms: the late-onset mild form or the classic early-onset form. The latter is life-threatening and always leads to death during early childhood.

Vaccine-Associated Neurological Adverse Events: A Case Report and Literature Review.

Vaccination is an effective strategy to reduce the burden of preventable illness. However, many clinical reports revealed that various vaccinations may associate with neurological disorders, mainly including autoimmune disease, febrile seizure, and vaccine-associated paralytic poliomyelitis (VAPP). Although more and more reports revealed that part of the above post-vaccine neurological disorders is not directly related to vaccination, it may be merely a coincidence.

Vagus nerve stimulation for pediatric patients with intractable epilepsy between 3 and 6 years of age: study protocol for a double-blind, randomized control trial.

Background: 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 for seizure reduction and mental development in young participants between 3 and 6 years of age who suffer from intractable epilepsy. However, robust clinical evidence for quantifying the difference of the efficacy and safety of VNS treatment in this specific patient population has yet to be reported.

Japanese Encephalitis Virus-Induced Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report and Review of Literature.

Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe) was originally described as a paraneoplastic disease with more than 50% cases involving a tumor. However, tumor incidence in anti-NMDARe in children is much lower. Herpes simplex virus-induced anti-NMDARe has been well-described; however, findings on Japanese encephalitis virus (JEV)-induced anti-NMDARe are scarce.

[A report of two children with fever, headache, and purpura].

In this study, two school-aged children had an acute onset in spring and had the manifestations of fever, headache, vomiting, disturbance of consciousness, purpura and ecchymosis, and positive meningeal irritation sign. There were increases in peripheral white blood cells and neutrophils, but reductions in the hemoglobin level and platelet count in the two children. They had a significant increase in C-reactive protein.