Results 81 to 90 of about 40,362 (222)

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

Effect of Saccadic Adaptation on Sequences of Saccades

Journal of Eye Movement Research, 2012
Accuracy of saccadic eye movements is maintained thanks to adaptation mechanisms. The adaptive lengthening and shortening of reactive and voluntary saccades rely on partially separate neural substrates. Although in daily-life we mostly perform sequences of saccades, the effect of saccadic adaptation has been mainly evaluated on single saccades.
Panouillères, Muriel, Salemme, Romeo, Urquizar, Christian, Pelisson, Denis   +3 more
openaire   +5 more sources

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +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

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Localization of a single tactile stimulus during saccadic eye movements

i-Perception
To localize tactile events in external space, our perceptual system must transform skin-based locations into an external frame of reference. Such a transformation has been reported to involve reference frames that are unrelated to tactile sensations ...
Kazumichi Matsumiya, Nanami Nakashima
doaj   +1 more source

Loss of cyclin‐dependent kinase‐like 5 results in susceptibility to audiogenic seizures in mice

Epilepsia Open, EarlyView.
Abstract CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early‐onset, treatment‐resistant epilepsy. Mice lacking CDKL5 display several clinically relevant phenotypes, but spontaneous seizures are not consistently reported, and it is unknown if CDD model mice are susceptible to sensory stimulus‐triggered ...
Jordan Higgins, Samuel Egan, Bilal El‐Mansoury, David C. Henshall, Omar Mamad   +4 more
wiley   +1 more source

The Influence of Distractors on Saccade-Target Selection: Saccade Trajectory Effects

Journal of Eye Movement Research, 2008
It has long been known that the path (trajectory) taken by the eye to land on a target is rarely straight (Yarbus, 1967). Furthermore, the magnitude and direction of this natural tendency for curvature can be modulated by the presence of a competing ...
Robin Walker, Eugene McSorley
doaj   +1 more source

Calcitonin gene‐related peptide concentration in cerebrospinal fluid and serum in horses affected by trigeminal‐mediated headshaking

Equine Veterinary Journal, EarlyView.
Abstract Background Trigeminal‐mediated headshaking (TMHS) in horses shares clinical features with human trigeminal neuralgia (HTN). Increased levels of the neuropeptide calcitonin gene‐related peptide (CGRP) have been found in the blood and cerebrospinal fluid (CSF) of HTN patients. Inhibition of CGRP in humans has shown promise for pain relief.
Lisa Annabel Weber, Hilke Oltmanns, Ludovica Chiavaccini, Kirstie J. Pickles, Veronica Roberts, Tanja Kloock, Tobias Niebuhr, Karsten Feige   +7 more
wiley   +1 more source

Quick Models for Saccade Amplitude Prediction

Journal of Eye Movement Research, 2009
This paper presents a new saccade amplitude prediction model. The model is based on a Kalman filter and regression analysis. The aim of the model is to predict a saccade’s am-plitude extremely quickly, i.e., within two eye position samples at the onset ...
Oleg V. Komogortsev, Young Sam Ryu, Do H. Koh   +2 more
doaj   +1 more source