High frequency deep brain stimulation of the hippocampus in a rat model for temporal lobe epilepsy [PDF]
Boon, Paul +9 more
core +1 more source
Objective The optimal treatment for distal medium vessel occlusion (DMVO) stroke remains uncertain, and evidence comparing endovascular therapy (EVT) with medical management (MM) is limited. We aimed to develop and validate a predictive modeling tool to assess individual treatment benefit in DMVO stroke using explainable counterfactual treatment ...
Mohamed F. Doheim +14 more
wiley +1 more source
Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research. [PDF]
Bakhos C +11 more
europepmc +1 more source
Diverse Genetic Etiologies of Unilateral Polymicrogyria
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai +21 more
wiley +1 more source
Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report. [PDF]
Pejanovic-Skobic N +5 more
europepmc +1 more source
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov +42 more
wiley +1 more source
Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano +20 more
wiley +1 more source
Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology. [PDF]
Vasilevsky N +19 more
europepmc +1 more source
An overview of epilepsy with a focus on the effects and implications of the condition for children and their families [PDF]
Featherstone, VA
core +1 more source
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo +16 more
wiley +1 more source

