SETD1B variants associated with absence seizures.

Aim: Exploring the association between SETD1B variants and absence seizures (ASs).

Methods: We engaged a small cohort of four pediatric epilepsy patients with identified SETD1B variants and conducted a comprehensive review of 50 documented instances. Clinical profiles were meticulously compiled, and genetic screening was executed via trio-based whole-exome sequencing.

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.

Variants loci and phenotype correlation of related neuro-renal syndrome: three cases reports and literature review.

Background: -related neuro-renal syndrome (NRS), caused by pathogenic variants of the gene, is characterized by epilepsy, developmental delay (DD) and renal disorders. The severity of the neurological effects as well as the presence of renal disorders is variable among patients. Here, we report three additional patients with clinical features compatible with NRS and summarize the association between the variants' loci and phenotype of -related NRS.

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

Objective: To analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS).

Methods: A total of 75 PDE patients with variants were diagnosed at the Department of Pediatrics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024, and five PDE patients with the phenotype of IESS were selected. The clinical manifestations, treatment, blood biochemistry, metabolic screening, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), and gene testing results of the five PDE patients were analyzed.

Electrochemical Sulfonylation/Cyclization of -Alkenylacrylamides with Sodium Sulfinates or Sulfonyl Hydrazides.

Two general protocols for the regioselective electrochemically enabled sulfonylation cyclization of -alkenylacrylamides with sodium sulfinates or sulfonyl hydrazides were described. These methods were carried out under mild, chemical oxidant-free, and transition-metal-free conditions with a broad substrate scope and good functional group tolerance to provide sulfonyl-containing 4-pyrrolin-2-ones, which is readily scalable to the gram scale.

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.

A generalized seizure type: Myoclonic-to-tonic seizure.

Background And Purpose: To test the hypothesis that myoclonic seizures can evolve to tonic seizures, we documented the electroclinical features of this under-recognized seizure type.

Methods: We observed a distinct seizure pattern starting with myoclonus without returning to an interictal state, which subsequently evolved into generalized tonic seizures. The detailed symptomatic and electroencephalographic characteristics of this seizure were extracted, and the clinical manifestations, drug curative responses in patients with this seizure were reviewed and analyzed.

POLR3-related leukodystrophy caused by biallelic and pathogenic variants: a single-center experience.

Objectives: This study aimed to investigate the clinical, radiological, and genetic features of POLR3-related leukodystrophy caused by mutations in or .

Methods: Fourteen Chinese patients with POLR3-related leukodystrophy were enrolled in this cross-sectional observational study. The clinical manifestations, brain MRI and genetic tests of the patients were evaluated.

Tongue Biting Event in Patients with Sleep-Related Facial Mandibular Myoclonus: A Case Series Study.

Background: Sleep-related facial mandibular myoclonus (SRFMM) remains rare in clinical practice. The aim of this study was to provide a comprehensive understanding of the electroclinical manner, therapeutic regimen, and prognosis of SRFMM.

Methods: Twenty-three patients who were diagnosed with SRFMM by clinical manifestation, video-electroencephalography (EEG) and electromyography over bilateral masseter and temporalis muscles were enrolled.

Genotype and phenotype correlation of -related neurological disorders.

Background: PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with variants in and analyse the impact of variants on protein-protein interaction.

Methods: We identified seven patients with variants by trio-based whole-exome sequencing.

Electroclinical Features and Long-Term Photosensitivity Outcome in Patients With Photoparoxysmal Response With Epilepsy.

Background: To investigate electroclinical phenotypes and long-term photosensitivity outcome in a large pediatric cohort of patients with epilepsy with photosensitivity.

Methods: Patients with epilepsy with photosensitivity with four or more years of follow-up were included. Sustained terminal remission (STR) of photosensitivity (≥3.

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.

Risk prediction of second primary malignant tumor in primary differentiated thyroid cancer patients: a population-based study.

Purpose: To investigate the risk factors of second primary malignant tumor (SPMT) in patients with differentiated thyroid cancer (DTC) and establish a competing risk nomogram to predict the probability of SPMT occurrence.

Methods: We retrieved data from the Surveillance, Epidemiology, and End Results (SEER) database for patients diagnosed with DTC between 2000 and 2019. The Fine and Gray subdistribution hazard model was employed to identify SPMT risk factors in the training set and develop a competing risk nomogram.

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review.

Structural rearrangements of chromosome 4p gives rise to a group of rare genomic disorders that mainly result in two different clinical entities: Wolf-Hirschhorn syndrome (WHS) and partial 4p trisomy. The severity of the phenotype depends on the size of the deletion or locus duplication. Here, we present two unrelated individuals with a copy number variation of chromosome 4p.

CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.

Background: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion.

Objective: The objective of this study was to confirm a novel SCA subtype caused by CAG expansion.

Methods: We performed long-read whole-genome sequencing combined with linkage analysis in a five-generation Chinese family, and the finding was validated in another pedigree.

Flexible Wearable Electronic Fabrics with Dual Functions of Efficient EMI Shielding and Electric Heating for Triboelectric Nanogenerators.

Traditional conductive fabrics are prepared by the synthesis of conductive polymers and the coating modification of metals or carbon black conductive materials. However, the conductive fabrics cause a significant decline in performance after washing or mechanical wear, which limits their application. Moreover, the single function of the traditional conductive fabric is also the reason that limits its wide application.

Efficacy of vigabatrin in the treatment of infantile epileptic spasms syndrome: A systematic review and meta-analysis.

This systematic review and meta-analysis aimed to evaluate the efficacy of vigabatrin (VGB) in treating infantile epileptic spasms syndrome (IESS). Databases of PubMed, Embase, Web of Science, MEDLINE, and Cochrane Library were systematically searched. All the relevant randomized controlled trials (RCTs) and observational studies (OSs) of VGB for IESS were included and analyzed separately.

PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.

Background: The PACS gene family has been demonstrated to be related to intracellular vesicular trafficking. The phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy, intellectual disability/developmental delay, and malformations, such as facial abnormalities.

Methods: We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation sequencing.

VEEG monitoring and electrographic seizures in 232 pediatric patients in ICU at a tertiary hospital in China.

Objectives: To investigate neonatal electroencephalography (EEG) background activity and electrographic seizures in patients in the pediatric intensive care unit (PICU) who underwent bedside video-electroencephalography (vEEG) monitoring.

Methods: A total of 232 pediatric patients admitted or transferred to PICU that underwent vEEG monitoring were retrospectively enrolled in this study, and electrographic status epilepticus was observed after vEEG monitoring.

Results: The median age was 1.

-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.

Objective: To analyze the genotypes and phenotypes of mosaic male patients with -related epilepsy (-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity.

Methods: Clinical data and peripheral blood samples of 11 male mosaic patients were collected and analyzed in our study. The VAF of the gene from peripheral blood was quantified using amplicon-based deep sequencing.

Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.

Background: To summarize the clinical and genetic characteristics of patients with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.

Methods: Clinical and genetic data of the patients were collected and analyzed.

Results: Eighteen patients from 17 families with variants in PNPO were collected, and 15 cases survived to date.

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Objective: To determine the contribution of genetic etiologies in epilepsy with photosensitivity.

Methods: A total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed.

Results: Pathogenic variants were identified in 35 patients, including (7) (6), (3), (3), (2), (1), (1), (1), (1) (1), (1), (1), (1), (1), (1), 5q33.

Jeavons syndrome featured with visual sensitivity existing as occipital cortex originating focal-to-generalized continuum epilepsy.

Objective: To study the relationship between eye closure sensitivity (ECLS), photosensitivity, and the mechanism of Jeavons syndrome (JS).

Methods: The interictal and the ictal epileptiform discharges (EDs) of 80 patients with electroencephalograms were classified (I: focal posterior EDs; II: the posterior spread into the frontal EDs; and III: generalized EDs) and analyzed under different provoked conditions.

Results: During the interictal and the ictal period, the positive rates of ECLS were higher than those of photosensitivity (100% vs 57.

A prediction model integrating synchronization biomarkers and clinical features to identify responders to vagus nerve stimulation among pediatric patients with drug-resistant epilepsy.

Aims: Vagus nerve stimulation (VNS) is a neuromodulation therapy for children with drug-resistant epilepsy (DRE). The efficacy of VNS is heterogeneous. A prediction model is needed to predict the efficacy before implantation.