Article
Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.
Journal of neurophysiology - 15 Aug 2014
Schutte Ryan J, Schutte Soleil S, Algara Jacqueline, Barragan Eden V, Gilligan Jeff, Staber Cynthia, Savva Yiannis A, Smith Martin A, Reenan Robert, O'Dowd Diane K
Abstract excerpt
Hundreds of mutations in the SCN1A sodium channel gene confer a wide spectrum of epileptic disorders, requiring efficient model systems to study cellular mechanisms and identify potential therapeutic targets. We recently demonstrated that Drosophila knock-in flies carrying the K1270T SCN1A mutation known to cause a form of genetic epilepsy with febrile seizures plus (GEFS+) exhibit a heat-induced increase in...
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