Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Analysis of air temperature reduction and indirect carbon savings by strategies of urban green space creation. [PDF]
Sci RepKim JE, Eum JH, Son JM.
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Examining streetscape visuals and emotional responses through social media and street view image analysis. [PDF]
Int J Health GeogrYang X, Shen J.
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Research on the open space ratios of residential plots in major Chinese cities meeting public centralized green space standards. [PDF]
Sci RepZhao B, Liu X, Yan F, Wang C, Huang M.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
<i>Acinetobacter</i> spp. with lower susceptibility to quaternary ammonium compounds enriched in microbial communities of frequently used sinks. [PDF]
Appl Environ MicrobiolCruz MC +9 more
europepmc +1 more source
Exploring the relationship between urban visual density and responsible tourism behavior: a multimodal study of Macao. [PDF]
Front PsycholWang Y, Lyu H, Wu Y, Ouyang Y.
europepmc +1 more source