Autosomal dominant -related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

Purpose: Hexokinase 1 () encodes a ubiquitously expressed hexokinase, which is responsible for the first step of glycolysis, phosphorylation of glucose to glucose-6-phosphate. Both autosomal recessive and dominant variants in this gene have previously been shown to cause human disease, and presently, there are clinical data available for 27 individuals with the monoallelic neurodevelopmental disorder with visual defects and brain anomalies. Delineation of the entire phenotypic spectrum and genotype-phenotype relations will aid in management and counseling decisions.

Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice.

Background: This study aimed to explore the clinical utility of targeted MECP2 testing in a large cohort of females with neurodevelopmental delays. Our aim was to identify suitable candidates for testing based on prevailing diagnostic criteria.

Methods: Eligible participants with global developmental delay/arrest or regression before age 36 months underwent MECP2 testing.

Clinical Profile and Predictors of Recurrent Simple Febrile Seizure.

Background: Recurrent simple febrile seizure (SFS) refers to febrile seizure (FS) that recurs within 24 hours. Patients with recurrent SFS often undergo unnecessary neurodiagnostic tests. To address this, we compared the clinical characteristics of recurrent SFS with those of SFS and investigated the risk factors associated with recurrent SFS.

Psychiatric and behavioral concerns of perampanel with concomitant levetiracetam in children with epilepsy.

Purpose: Perampanel (PER) is expanding the therapeutic scope for pediatric epilepsy owing to its efficacy and favorable safety profile. However, concerns about psychiatric and behavioral adverse events (PBAEs) in combination therapy with levetiracetam (LEV) continue to contribute to hesitation in its prescription. We investigated the risk profiles for PBAEs when adding PER to pediatric epilepsy treatment and analyzed the differences according to the presence of concomitant LEV.

Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom.

Background: Teenagers with epilepsy require special attention to ensure a successful treatment journey. Our objective was to delineate the clinical characteristics of adolescent-onset epilepsy (AOE) and investigate the predictive factors influencing first-year seizure freedom.

Methods: We retrospectively analyzed the medical records of patients whose first seizure occurred between the ages of 10 and 19 years and who received antiseizure medication (ASM) treatment for at least 12 months.

Prospective Associations between Cumulative Average Intake of Flavonoids and Hypertension Risk in the CArdioVascular Disease Association Study (CAVAS).

In this study, we aimed to investigate the prospective associations and their shapes between the dietary intake of total flavonoids and their seven subclasses and hypertension risk in a prospective cohort, the KoGES_CArdioVascular disease Association Study (CAVAS), and to consider obesity status as an additional factor. A total of 10,325 adults aged 40 years and older were enrolled at baseline, and 2159 patients were newly diagnosed with hypertension during a median follow-up of 4.95 years.

Seizure Evolution and Outcome in Pediatric Autoimmune Encephalitis.

Background: Our study aimed to characterize seizure incidence and seizure outcome of pediatric autoimmune encephalitis (AE) focusing on subgroup analysis based on antibody (Ab).

Methods: Among 110 pediatric patients with AE, we compared seizure characteristics and outcomes in 68 patients with seizure, who satisfied the proposed criteria of pediatric AE. Accordingly, patients were classified into three groups, anti-myelin oligodendrocyte glycoprotein (anti-MOG) AE, anti-N-methyl-D-aspartic acid receptor (anti-NMDAR) AE, and Ab-negative AE.

Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy.

Introduction: Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder long recognized as the most common genetic cause of infantile mortality described so far. However, the emergence of some innovative therapies, such as nusinersen and onasemnogene abeparvovec (AVXS-101), have made it possible to change the disease course of SMA.

Methods: In this study, five SMA type 1 and one SMA type 2 patients who received AVXS-101 were enrolled (7-24 months of age when administered).

Homeostatic regulation of neuronal excitability by probiotics in male germ-free mice.

Emerging evidence indicates that probiotics can influence the gut-brain axis to ameliorate somatic and behavioral symptoms associated with brain disorders. However, whether probiotics have effects on the electrophysiological activities of individual neurons in the brain has not been evaluated at a single-neuron resolution, and whether the neuronal effects of probiotics depend on the gut microbiome status have yet to be tested. Thus, we conducted whole-cell patch-clamp recording-assisted electrophysiological characterizations of the neuronal effects of probiotics in male germ-free (GF) mice with and without gut microbiome colonization.

Effects of Combined Anti-Hypertensive and Statin Treatment on Memory, Fear Extinction, Adult Neurogenesis, and Angiogenesis in Adult and Middle-Aged Mice.

Hyperlipidemia and hypertension are modifiable risk factors for cognitive decline. About 25% of adults over age 65 use both antihypertensives (AHTs) and statins to treat these conditions. Recent research in humans suggests that their combined use may delay or prevent dementia onset.