Article
Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome.
The Journal of clinical investigation - 15 Jun 2023
Fadila Saja, Beucher Bertrand, Dopeso-Reyes Iria González, Mavashov Anat, Brusel Marina, Anderson Karen, Ismeurt Caroline, Goldberg Ethan M, Ricobaraza Ana, Hernandez-Alcoceba Ruben, Kremer Eric J, Rubinstein Moran
Abstract excerpt
Dravet syndrome (DS), an intractable childhood epileptic encephalopathy with a high fatality rate, is typically caused by loss-of-function mutations in one allele of SCN1A, which encodes NaV1.1, a 250-kDa voltage-gated sodium channel. In contrast to other epilepsies, pharmaceutical treatment for DS is limited. Here, we demonstrate that viral vector-mediated delivery of a codon-modified SCN1A open reading frame...
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