Results 121 to 130 of about 3,839 (263)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son   +3 more
wiley   +1 more source

Differential Item Functioning on the Patient Health Questionnaire 8 by Disease Subtype, Language, Sex, and Age Among People With Systemic Sclerosis: A Scleroderma Patient‐Centered Intervention Network Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu   +110 more
wiley   +1 more source

New Onset of Fibromyalgia After Exposure to a Combat Environment: A Longitudinal Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective Traumatic life events are hypothesized to be triggers for the onset of fibromyalgia. Posttraumatic stress disorder (PTSD) is a common comorbidity of fibromyalgia. However, limited prospective data are available on the development of fibromyalgia after exposure to high‐magnitude stress.
Jay B. Higgs   +15 more
wiley   +1 more source

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