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Correction to: Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.
Neurogenetics
January 2025
School of Clinical Medicine, Fujian Medical University, Fuzhou, China.
Idiopathic pulmonary arteriovenous malformation: a rarity in clinical practice.
J Vasc Bras
January 2025
Universidade Federal da Paraíba - UFPB, Hospital Universitário Lauro Wanderley - HULW, João Pessoa, PB, Brasil.
Pulmonary arteriovenous malformations (PAVM) are characterized by abnormal pulmonary vessels forming arteriovenous shunts that compromise oxygenation of the blood, causing hypoxemia, and predispose to infections and cerebral ischemia. The patient in this case was a 38-year-old male who presented with tachypnea and dyspnea, cyanosis of extremities, and significant digital clubbing. The patient had structural epilepsy secondary to neurosurgery for a cerebral abscess during childhood.
View Article and Find Full Text PDFCorrelation between selenium levels and selenoproteins expression in idiopathic generalized epilepsy: a study from Karachi.
BMC Neurol
January 2025
Department of Neurology, Dow University Hospital, Dow University of health sciences, Karachi, Pakistan.
Background: Oxidative damage has been implicated in multiple neurodegenerative diseases, including epilepsy. Selenium, in the form of selenoproteins is an integral part of the human antioxidant defense system. Though a relationship between the altered selenium levels and epilepsy has been reported, limited evidence is available about the expression pattern of selenoproteins in epileptic patients.
View Article and Find Full Text PDFRYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature.
Am J Med Genet B Neuropsychiatr Genet
January 2025
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
The RYR3 gene encodes a brain-type ryanodine receptor that functions to release calcium from intracellular storage and plays an essential role in calcium signaling. The associations between RYR3 variants and brain disorders remain unknown. We performed whole-exome sequencing in patients with idiopathic (non-lesional) partial epilepsy of unknown etiology.
View Article and Find Full Text PDFDiffusion tensor imaging for detecting biomarkers of idiopathic epilepsy in dogs.
Front Vet Sci
January 2025
Department of Clinical Studies, Ontario Veterinary College, University of Guelph, Guelph, ON, Canada.
Idiopathic epilepsy (IE) is the most common neurological disease in dogs. Approximately 1/3 of dogs with IE are resistant to anti-seizure medications (ASMs). Because the diagnosis of IE is largely based on the exclusion of other diseases, it would be beneficial to indicate an IE biomarker to better understand, diagnose, and treat this disease.
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