Results 171 to 180 of about 94,750 (283)

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

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons. [PDF]

JPRAS Open
Bleeker AJ, Sullivan NAT, Brouwer AH, de Koster EJ, van Egmond-Ebbeling MB, Voskuil-Kerkhof ESM, Schellekens PAW, van den Boogaard MH, Breugem CC.   +8 more
europepmc   +1 more source

OPHTHALMOLOGICAL SYNOPSES [PDF]

British Journal of Ophthalmology, 1966
openaire   +2 more sources

Neuro-Ophthalmology [PDF]

Postgraduate Medical Journal, 1941
openaire   +2 more sources

Fenfluramine in SCN1A‐related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability

Epilepsia Open, EarlyView.
Abstract The SCN1A gene is implicated in a broad spectrum of epilepsy phenotypes, ranging from self‐limited genetic epilepsy with febrile seizures plus (GEFS+) to severe developmental and epileptic encephalopathies such as Dravet syndrome (DS). While fenfluramine (FFA) has demonstrated strong efficacy in DS, its role in SCN1A‐related epilepsies beyond ...
Giovanni B. Dell'Isola, Alice Muda, Lucio Giordano, Renzo Guerrini, Alessandra Boncristiano, Nicola Pietrafusa, Maria Polselli, Francesca Bisulli, Francesca Ragona, Antonella Riva, Pasquale Striano, Domenica Immacolata Battaglia, Federico Vigevano   +12 more
wiley   +1 more source

Clinical Ophthalmology [PDF]

British Journal of Ophthalmology, 2000
openaire   +2 more sources

Stigma, attitude, and knowledge of epilepsy in Italy: A survey on 1159 subjects

Epilepsia Open, EarlyView.
Abstract Objective Stigma remains a major determinant of impaired quality of life (QoL) in people with epilepsy (PwE). We aimed to investigate perceptions of epilepsy‐related stigma in the Italian general population, assess knowledge of epilepsy and seizure first aid, and identify factors associated with stigmatizing attitudes.
Marina Romozzi, Federico Tosto, Raffaele Turano, Lapo Sbrenna, Davide Chiffi, Flavia Bianchi, Vincenzo Trigila, Catello Vollono, Giovanni Assenza, Mario Tombini, Paolo Calabresi, Sonia Di Tella, Luigi Francesco Iannone   +12 more
wiley   +1 more source

Keratoscleritis and Choroidal Exudative Detachment in the Setting of Ocular Pyoderma Gangrenosum. [PDF]

Case Rep Ophthalmol Med
Bodeen J, El Zein L, Yamanuha JJ, Chanbour W.   +3 more
europepmc   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Successful Dichoptic Therapy for Amblyopia in a Child Unable to Tolerate Occlusion Therapy due to Autism Spectrum Disorder. [PDF]

Case Rep Ophthalmol Med
Nakatsuka S, Iwata Y, Ito H, Nakano Y, Mokuno K, Handa T.   +5 more
europepmc   +1 more source