Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome. Our understanding of the etiologies of DEEs has been revolutionized with next-generation sequencing, with more than 900 genes implicated, in addition to structural causes. It is therefore now possible to consider precision medicine and novel therapeutic approaches for these devastating diseases with trials of repurposed and new drugs, including gene therapies. Trials are being designed to target either DEE diseases more broadly, specific DEE syndromes, or specific genetic DEEs. To serve this purpose, a clear operational definition of DEEs is needed to ensure that appropriate patients are selected for trials with precisely defined, targeted outcome measures. Herein we propose the operational definition of DEEs to set the stage for the development of DEE therapies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997937 | PMC |
| http://dx.doi.org/10.1111/epi.18265 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cathodal High-Definition Transcranial Direct Current Stimulation Primed Intermittent Theta-Burst Stimulation for Upper Limb Motor Recovery in Stroke: A secondary analysis.
Arch Phys Med Rehabil
September 2025
Department of Rehabilitation Medicine, Wuxi Central Rehabilitation Hospital, The Affiliated Mental Health Center of Jiangnan University, Wuxi, Jiangsu, China. Electronic address:
Objective: To identify baseline factors linked to a positive response to intermittent theta-burst stimulation (iTBS) in individuals with stroke.
Design: Secondary analysis of a randomized controlled trial.
Setting: A single rehabilitation hospital.
Endoscopic transorbital approach for orbital cavernous hemangioma: A case series.
Neurochirurgie
September 2025
School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy; Neurosurgery, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.
Background: Orbital cavernous hemangiomas (OCH) are the most common benign orbital tumors, often presenting with proptosis. The endoscopic transorbital approach (ETOA) is increasingly being utilized for the treatment of OCH, offering minimal invasiveness and superior cosmetic outcomes. This study aims to evaluate the safety, efficacy, and clinical outcomes of ETOA for OCH.
View Article and Find Full Text PDFQuantum Information Theory on Sparse Wave Functions and Applications for Quantum Chemistry.
J Phys Chem A
September 2025
Dipartimento di Scienze Fisiche e Chimiche, Università degli Studi dell'Aquila, Coppito, L'Aquila 67100, Italy.
In recent years Quantum Computing prominently entered in the field of Computational Chemistry, importing and transforming computational methods and ideas originally developed within other disciplines, such as Physics, Mathematics and Computer Science into algorithms able to estimate quantum properties of atoms and molecules on present and future quantum devices. An important role in this contamination process is attributed to Quantum Information techniques, having the 2-fold role of contributing to the analysis of electron correlation and entanglements and guiding the construction of wave function variational ansatzes for the Variational Quantum Eigensolver technique. This paper introduces the tool SparQ (Sparse Quantum state analysis), designed to efficiently compute fundamental quantum information theory observables on post-Hartree-Fock wave functions sparse in their definition space.
View Article and Find Full Text PDFPre-Donation Cardiac Arrest and Liver Transplantation Outcomes: Implications for Ischemic Preconditioning.
Clin Transplant
September 2025
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Background: Liver transplantation is the definitive treatment for end-stage liver disease and some cancers. The use of livers from donors following pre-donation cardiac arrest (PDCA), especially with prolonged downtime duration, has been limited outside of the US due to fears over inferior outcomes from ischemic injury. However, PDCA may induce ischemic preconditioning, paradoxically improving post-transplant outcomes.
View Article and Find Full Text PDFSignificant differences in the rate of periprosthetic joint infections in revision hip and knee arthroplasty depending on the applied definition.
Arch Orthop Trauma Surg
September 2025
Adult Reconstruction and Joint Replacement Service, Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA.
Background: Differentiating periprosthetic joint infections (PJI) from aseptic failure is challenging in total joint arthroplasty. To date, there is no consensus about the most accurate criteria to diagnose PJI. The current study compares common diagnostic PJI criteria.
View Article and Find Full Text PDF