Results 171 to 180 of about 45,133 (250)
A prospective natural history study protocol for clinical trial readiness in synaptic disorders
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee +38 more
wiley +1 more source
WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse
Epilepsia, EarlyView.Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper +11 more
wiley +1 more source
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 +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 +3 more
wiley +1 more source
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Epilepsia Open, EarlyView.Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia +4 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi +10 more
wiley +1 more source
International Journal of Cancer, EarlyView.ABSTRACT Somatostatin receptors (SSTR) mediate the antiproliferative, antisecretory, and proapoptotic effects of somatostatin and its synthetic analogs. Their surface expression on neuroendocrine tumor (NET) cells is required for somatostatin analog therapy and radiopharmaceutical therapy (RPT).
Neeraj Kumari +10 more
wiley +1 more source
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
iNew Medicine, EarlyView.A tFNA‐based siRNA delivery system targeting IGFBP7 effectively silences IGFBP7 expression and attenuates renal dysfunction, tubular injury, and cell death in both septic (CLP) and ischemic (I/R) murine models of acute kidney injury. ABSTRACT Objective Acute kidney injury (AKI) is a common and serious clinical condition, yet effective targeted ...
Shao‐qi Wu +11 more
wiley +1 more source