Results 91 to 100 of about 61,218 (243)
Epilepsia Open, EarlyView.Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza +4 more
wiley +1 more source
Febrile status epilepticus and epileptogenesis: The FEBSTAT study
Epilepsia Open, EarlyView.Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis +14 more
wiley +1 more source
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain
Epilepsia Open, EarlyView.Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad +10 more
wiley +1 more source
Steroidopathies and hormonal imbalance in children and adolescents with autism spectrum disorder
JCPP Advances, EarlyView.Abstract Background Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a multifactorial etiology, many aspects of which remain unclear. Emerging evidence suggests a potential association between ASD and clinical manifestations resulting from hormonal imbalances, henceforth named “steroidopathies.” The present study aims to ...
Concetta de Giambattista +5 more
wiley +1 more source
Journal of the Science of Food and Agriculture, EarlyView.Abstract Omega‐3 fatty acids (omega‐3s) are polyunsaturated fatty acids linked with numerous health benefits. Omega‐3s exhibit multifaceted activities through various mechanisms. Eicosapentaenoic acid (EPA) alleviates oxidative stress by lowering reactive oxygen species and improving oxidative stress in brain tissues and acts against neurodegenerative ...
Md Faruque Ahmad +12 more
wiley +1 more source
Lysosome Evanescence Mediates Autophagic Flux Impairment in Glucose Imbalanced Environments
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Schwann cells (SCs) support axonal function and promote nerve regeneration. This study investigated how various glucose concentrations influence SC viability, oxidative stress, and autophagy, which contribute to diabetic neuropathy. RSC96 SCs were cultured under five glucose conditions (0, 2.5, 5.5, 50, or 100 mM) for 24, 48, and 72 h.
Yuan‐Chen Cheng +6 more
wiley +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Movement Disorders Clinical Practice, EarlyView.Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang +24 more
wiley +1 more source
International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet +47 more
wiley +1 more source