Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
An Extrinsic Fabry Perot Fiber Optic Current Transformer Based on PZT Coupling. [PDF]
Bai S, Li Z, Li Y, Chen Q.
europepmc +1 more source
Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl +6 more
wiley +1 more source
Low cost full field optical coherence tomography device using a DVD optical head and smartphone camera. [PDF]
Ebrahimi M, Zakery A.
europepmc +1 more source
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Clinical Challenges in the Management of Complex Tooth Impaction and Transposition: A Case Series. [PDF]
AlBalbeesi HO, Alshayea EI.
europepmc +1 more source
Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella +5 more
wiley +1 more source
Mechanically Induced Switching Between Orbital- and Fano-Resonance Rectification in a Dual-Anchored Molecular Junction. [PDF]
Sun X +8 more
europepmc +1 more source
Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli +13 more
wiley +1 more source
Domain Adaptation-Based Sorting Method for UAV Swarm Targets on Multi-Station Features. [PDF]
Zhang X +5 more
europepmc +1 more source

