Results 141 to 150 of about 80,524 (246)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
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

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

The Great-toe Jerk [PDF]

BMJ, 1958
openaire   +2 more sources

MiR‐30a‐5p mediates epileptogenesis in epilepsy models by targeting SOX4 to regulate the Wnt/β‐catenin pathway

Epilepsia Open, EarlyView.
Abstract Objective The pathogenesis of epilepsy is closely associated with neuronal synaptic plasticity. MicroRNAs (miRNAs) can regulate various biological processes by binding to specific sequences on target genes. This study employs bioinformatics, molecular dynamics, and experimental approaches to investigate the mechanism by which MiR‐30a‐5p treats
Zhenlin Yang, Xu Zhang, Jingjing Guo, Yuanxin Wei, Jinzi Li   +4 more
wiley   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

Effectiveness and safety of implantable vagus nerve stimulation in people with primary generalized tonic–clonic seizures

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective Most therapies for drug‐resistant epilepsy (DRE) focus on focal‐onset seizures, the most common seizure types. Studying primary generalized tonic–clonic seizures (PGTCS) is more challenging due to diagnostic and recruitment ...
Katherine Eggleston, Justine Curley, Ryan Verner, Maxine Dibue, Charles Gordon, Gaia Giannicola, Kathryn Nichol   +6 more
wiley   +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

The prevalence of Streptococcus equi subsp. equi carriers in the Netherlands

Equine Veterinary Journal, EarlyView.
Abstract Background Streptococcus equi subspecies equi (S. equi) carriers are thought to be important drivers for strangles outbreaks. Limited data are available on the prevalence of carriers in European horse husbandry settings. Objectives To estimate the prevalence of S.
R. M. A. C. Houben, E. M. Broens, M. J. Broekhuizen‐Stins, M. M. Sloet van Oldruitenborgh‐Oosterbaan, C. van Maanen, J. A. P. Heesterbeek   +5 more
wiley   +1 more source