Epilepsia, EarlyView.Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer +7 more
wiley +1 more source
Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases. [PDF]
Ophthalmol SciLindquist M +3 more
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter. [PDF]
Invest Ophthalmol Vis SciWu V +16 more
europepmc +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Rest‐activity patterns across development in two mouse models of autism and epilepsy
Epilepsia Open, EarlyView.Abstract Objective Sleep disturbances are common in individuals with autism spectrum disorder (ASD) and epilepsy and are increasingly recognized as comorbidities that affect disease severity and quality of life. This study investigated rest‐activity patterns across development in two genetic mouse models relevant to ASD and epilepsy: synapsin 2 (Syn2 ...
Ipsa Dash +4 more
wiley +1 more source
Assessing Agreement between Blue-Light and Green-Light Autofluorescence of Macular Hyperautofluorescent Rings in Inherited Retinal Diseases. [PDF]
Ophthalmol SciDaich Varela M +4 more
europepmc +1 more source
Exploration, EarlyView.This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi +5 more
wiley +1 more source
Base and Prime Editing for Inherited Retinal Diseases: Delivery Platforms, Safety, Efficacy, and Translational Perspectives. [PDF]
PharmaceuticsZhang H, Li Y, Li J, Li X, Li T.
europepmc +1 more source
Mango Seed Valorization: Sustainable Source of Nutrients, Bioactives, and Value‐Added Applications
Food Chemistry International, EarlyView.Highlighting mango seed as a valuable yet overlooked by‐product, promoting its utilization and reducing agroindustrial waste. ABSTRACT Mango (Mangifera indica L.) is one of the most widely cultivated tropical fruits, generating large quantities of by‐products during processing, with mango seed representing 20%–25% of the whole fruit weight ...
Priyanka Yadav +3 more
wiley +1 more source