Results 191 to 200 of about 5,172,195 (247)

Deciphering the impact of ABCA4 genetic variants of unknown significance in inherited retinal disease through computational and functional approaches. [PDF]

Adv Protein Chem Struct Biol
Cevik S, Jones JS, Biswas SB, Biswas-Fiss EE.   +3 more
europepmc   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

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, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease. [PDF]

Retina
Simunovic MP, Moore AT, Grigg J, Sergouniotis P, Mahroo OA, Vincent A, Singh M, Fischer MD, Edwards T, Mack H, Hogden M, Chen FK, Hewitt A, Ayton L, Leroy B, Jamieson R, Gillies MC, Barthelmes D.   +17 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

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease. [PDF]

Int J Mol Sci
Priglinger CS, Gerhardt MJ, Priglinger SG, Schaumberger M, Neuhann TM, Bolz HJ, Mehraein Y, Rudolph G.   +7 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, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Systematic Identification of Candidate Genes for Inherited Retinal Disease Gene Therapy Integrating Worldwide IRD Cohort and Single-Cell Analysis. [PDF]

J Ophthalmol
Wang CY, Chen L, Lin TY, Huang SP.
europepmc   +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, Filip Fredlund, Jenny Wickham, My Andersson, Christine T. Ekdahl   +4 more
wiley   +1 more source

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel. [PDF]

Mol Genet Genomic Med
Midgley N, Rebello G, Holtes LK, Ramesar R, Roberts L.   +4 more
europepmc   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

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, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source