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Primary Erythromelalgia: Historical Perspective and Current Update.
Cureus
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Medical Education, Nova Southeastern University Dr. Kiran C. Patel College of Allopathic Medicine, Davie, USA.
Erythromelalgia is a condition characterized by intense burning pain, redness, and heat in the extremities that has garnered increasing attention in recent years. This literature review provides a comprehensive historical perspective and current update on primary erythromelalgia or PEM, categorizing and tracing the clinical knowledge of the condition and identifying key milestones of historical research. In a sequential fashion, the review explores the evolution of understanding of PEM, starting from its initial descriptions in the medical literature to the present day.
View Article and Find Full Text PDFDifferential Regulation of Nav1.1 and SCN1A Disease Mutant Sodium Current Properties by Fibroblast Growth Factor Homologous Factors.
Cells
February 2025
Biology Department, School of Science, Indiana University Indianapolis, Indianapolis, IN 46202, USA.
Fibroblast growth factor homologous factors (FHFs) regulate the activity of several different voltage-gated sodium channels (Nas). However, more work is needed to determine how specific FHF isoforms and variants affect the properties of different Na isoforms. In addition, it is not known if FHFs can differentially modulate the properties of Na variants associated with disease.
View Article and Find Full Text PDFLong QT syndrome type 3 gain-of-function of Na1.5 increases ventricular fibroblasts proliferation and pro-fibrotic factors.
Commun Biol
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Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.
The long QT syndrome type 3 (LQT3) is a cardiac channelopathy caused by gain-of-function mutations in the SCN5A gene, encoding the sodium channel Na1.5. As Na1.
View Article and Find Full Text PDFAbnormality of Voltage-Gated Sodium Channels in Disease Development of the Nervous System. A Review Article.
CNS Neurol Disord Drug Targets
February 2025
Institute of Brain Disorders, Department of Physiology, Dalian Medical University Liaoning Provence China.
Sodium channels are necessary for electrical activity in modules of the nervous system. When such channels fail to work properly, it may cause different neurological diseases. This review will discuss how particular mutation in these channels leads to different diseases.
View Article and Find Full Text PDFCardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?
Pediatr Neurol
March 2025
Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Pediatrics Research Group, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain; Pediatric Neurology Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy associated with loss-of-function variants in the SCN1A gene. Although predominantly expressed in the central nervous system, SCN1A is also expressed in the heart, suggesting a potential link between neuronal and cardiac channelopathies. Additionally, DS carries a high risk of sudden unexpected death in epilepsy (SUDEP).
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