Dravet syndrome is a rare and severe form of epilepsy caused primarily by inherited loss-of-function mutations in a gene called SCN1A. This gene encodes a sodium ion channel known as Nav1.1 and is required for the proper ...
Sep 20, 2013
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For years, a multidisciplinary team of Johns Hopkins researchers has tracked an elusive creature, a complex of proteins thought to be at fault in some cases of sudden cardiac death. As they report Nov. 5 in the online edition ...
Nov 5, 2014
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Ion channels, which allow potassium and sodium ions to flow in and out of cells, are crucial in neuronal 'firing' in the central nervous system and for brain and heart function. These channels use a "ball-and-chain" mechanism ...
Mar 18, 2020
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A new study led by researchers from Florida International University (FIU) reveals a mechanism linking the pesticide DDT to Alzheimer's disease.
Aug 17, 2022
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In a development that may finally offer hope to children with Dravet syndrome and their parents, a promising investigational new therapeutic appears to alter the destructive course of the deadly disease in a mouse model.
Aug 26, 2020
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Molecular clocks in cells throughout the body control many physiologic changes in a 24-hour day/night circadian rhythm—among them the timing of sleep and wakefulness.
Nov 14, 2016
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Cystic fibrosis is one of the most common inherited single gene diseases, with an incidence of 1 out of 3,000 newborns in central Europe. An EU study developed a novel gene therapy approach for improving fluid absorption ...
Sep 20, 2012
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Yale researchers have identified a drug target that may alleviate joint degeneration associated with osteoarthritis, a debilitating condition that afflicts as many as 30 million people in the United States alone, which they ...
Jan 3, 2024
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A new Northwestern Medicine study may help explain why patients with the same epilepsy gene mutation experience different levels of disease severity. The findings, published in the Proceedings of the National Academy of Sciences ...
Feb 7, 2017
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Researchers from Case Western Reserve University have identified a potential new approach to better controlling epileptic seizures.
May 19, 2021
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