Results 221 to 230 of about 10,917,188 (341)

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Real-World Comparison of Overall Survival Among Patients With and Without Inherited Retinal Diseases. [PDF]

Vision (Basel)
Lam BL, Mendoza-Santiesteban CE, Pilon D, Milentijevic D, Morrison L, Schwartzbein S, Vanden Eynde C, Lafeuille MH, Lefebvre P, Gregori NZ.   +9 more
europepmc   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Mental health outcomes in patients with inherited retinal diseases: a systematic review and meta-analysis. [PDF]

Int J Retina Vitreous
Abu Serhan H, Ahmed A, Sbei O, Kojan W, Chaudhry M, Khalid M, Sheraz A, Al-Moujahed A.   +7 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

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

Inherited Retinal Diseases with High Myopia: A Review. [PDF]

Genes (Basel)
Liu C, Sheri N, Benson MD.
europepmc   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Burden and characteristics of inherited retinal diseases in China. [PDF]

Sci Rep
Lin Y, Dou X, Li L, Zhou W, Zhang W, Wang L, Wang JZ, Shen Y.   +7 more
europepmc   +1 more source

Artificial Intelligence in Ophthalmology: Current Status, Challenges, and Future Perspectives

Health Care Science, EarlyView.
Current research of artificial intelligence (AI) in ophthalmology. ABSTRACT Artificial intelligence (AI) is revolutionizing ophthalmology by providing innovative solutions for disease screening, diagnosis, personalized treatment, and the delivery of global healthcare services.
She Chongyang, Tao Yong
wiley   +1 more source