Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
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
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
Clinical characteristics of <i>Pneumocystis jirovecii</i> pneumonia in non-HIV patients: a retrospective study. [PDF]
Li M +5 more
europepmc +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
Correction to "Male Sex Is Associated With Severe Pulmonary Hypertension and Worse Outcome in Chronic Obstructive Pulmonary Disease Patients Referred for Right Heart Catheterization". [PDF]
europepmc +1 more source
Assessing the burden of diabetes mellitus in dengue patients: A systematic review and meta-analysis. [PDF]
Lin J +7 more
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
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
Clinical profile and risk factors of severe adenoviral infections among hospitalised children in South India: a cross-sectional study. [PDF]
Abraham S +5 more
europepmc +1 more source
Predicting severe COVID-19 disease in adults: A single-centre cohort study during the first three pandemic waves in 2020-2021 in Vilnius, Lithuania. [PDF]
Kubiliute I +7 more
europepmc +1 more source

