CCDC22 variants caused X-linked focal epilepsy and focal cortical dysplasia.

Background: The CCDC22 gene plays vital roles in regulating the NF-κB pathway, an essential pathway for neuroinflammation, neurodevelopment, and epileptogenesis. Previously, variants in CCDC22 were reported to be associated with intellectual disability. This study aimed to explore the association between CCDC22 and epilepsy.

Vegetation increases global climate vulnerability risk by shifting climate zones in response to rising atmospheric CO.

Global climate zones are experiencing widespread shifts with ongoing rise in atmospheric CO, influencing vegetation growth and shifting its distributions to challenge ecosystem structure and function, posing threats on ecological and societal safety. However, how rising atmospheric CO affects the pace of global climate zone shifts is highly uncertain. More attentions are urgently required to understand the underlying mechanisms and quantifications of regional climate vulnerability in response to rising CO.

Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.

Objectives: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy.

variants in childhood epilepsies and the molecular subregional effects.

Background: The gene, encoding the GABRR subunit α1, plays vital roles in inhibitory neurons. Previously, the gene has been identified to be associated with developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). This study aims to explore the phenotypic spectrum of and molecular subregional effect analysis.

Epilepsy-associated genes: an update.

Purpose: To provide an updated list of epilepsy-associated genes based on clinical-genetic evidence.

Methods: Epilepsy-associated genes were systematically searched and cross-checked from the OMIM, HGMD, and PubMed databases up to July 2023. To facilitate the reference for the epilepsy-associated genes that are potentially common in clinical practice, the epilepsy-associated genes were ranked by the mutation number in the HGMD database and by case number in the China Epilepsy Gene 1.

Efficacy and safety of perampanel as early add-on therapy in Chinese patients with focal-onset seizures: a multicenter, open-label, single-arm study.

Background: No interventional study has been conducted in China to assess efficacy and safety of perampanel in treating Chinese patients with epilepsy, nor has there been any study on perampanel early add-on therapy in China. This interventional study aimed to assess efficacy and safety of perampanel as an early add-on treatment of focal-onset seizures (FOS) with or without focal-to-bilateral tonic-clonic seizures (FBTCS) in Chinese patients.

Methods: In this multicenter, open-label, single-arm, phase 4 interventional study, Chinese patients ≥ 12 years old with FOS with or without FBTCS who failed anti-seizure medication (ASM) monotherapy from 15 hospitals in China were enrolled and treated with perampanel add-on therapy (8-week titration followed by 24-week maintenance).

Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.

Objectives: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy.

HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.

Background: HCFC1 encodes transcriptional co-regulator HCF-1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X-linked cobalamin metabolism disorders and mental retardation-3. This study aimed to explore the role of HCFC1 variants in common epilepsy and the mechanism underlying phenotype heterogeneity.

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.

Ultrasound-Guided Modified Seldinger Placement of Tenckhoff Catheters in Pediatric Patients Undergoing Peritoneal Dialysis: Single Center Experience.

Minimally invasive peritoneal dialysis (PD) catheterization is increasingly common, and percutaneous PD catheters may be placed using a trocar or the Seldinger technique. There are few reports of pediatric percutaneous PD catheter insertion. We retrospectively compared the outcomes from percutaneous placement of Tenckhoff catheters using a modified Seldinger technique with catheter placement by open surgery.

Recessive Variants Associated With Partial Epilepsy and Spasms in Infancy.

Objective: The gene encodes the laminin subunit α5, the most abundant laminin α subunit in the human brain. It forms heterotrimers with the subunit β1/β2 and γ1/γ3 and regulates neurodevelopmental processes. Genes encoding subunits of the laminin heterotrimers containing subunit α5 have been reported to be associated with human diseases.

Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures.

Objective: mutations were associated with X-linked intellectual developmental disorder-109 and in males with autism spectrum disorder (ASD). The relationship between and epilepsy has not been defined.

Method: Trios-based whole-exome sequencing was performed in a cohort of 372 unrelated cases (families) with partial (focal) epilepsy without acquired causes.

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Aims: To identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+).

Methods: The trio-based whole-exome sequencing was performed in a cohort of 462 cases with FS/EFS+. Silico programs, sequence alignment, and protein modeling were used to predict the damaging of variants.

Carbon response of tundra ecosystems to advancing greenup and snowmelt in Alaska.

The ongoing disproportionate increases in temperature and precipitation over the Arctic region may greatly alter the latitudinal gradients in greenup and snowmelt timings as well as associated carbon dynamics of tundra ecosystems. Here we use remotely-sensed and ground-based datasets and model results embedding snowmelt timing in phenology at seven tundra flux tower sites in Alaska during 2001-2018, showing that the carbon response to early greenup or delayed snowmelt varies greatly depending upon local climatic limits. Increases in net ecosystem productivity (NEP) due to early greenup were amplified at the higher latitudes where temperature and water strongly colimit vegetation growth, while NEP decreases due to delayed snowmelt were alleviated by a relief of water stress.

Variants Associated With Idiopathic Generalized Epilepsies.

The objective of this study is to explore the role of gene in idiopathic generalized epilepsies and the potential underlying mechanism for phenotypic variation. Whole-exome sequencing was performed in a cohort of 88 patients with idiopathic generalized epilepsies. Electro-physiological alterations of the recombinant -methyl-D-aspartate receptors (NMDARs) containing GluN2A mutants were examined using two-electrode voltage-clamp recordings.

HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema.

To characterize human leukocyte antigen (HLA) loci as risk factors in aromatic antiepileptic drug-induced maculopapular exanthema (AED-MPE). A case-control study was performed to investigate HLA loci involved in AED-MPE in a southern Han Chinese population. Between January 2007 and June 2019, 267 patients with carbamazepine (CBZ), oxcarbazepine (OXC), or lamotrigine (LTG) associated MPE and 387 matched drug-tolerant controls from six centers were enrolled.