Article
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.
The Journal of clinical investigation - 1 Dec 2021
Li Melody, Jancovski Nikola, Jafar-Nejad Paymaan, Burbano Lisseth E, Rollo Ben, Richards Kay, Drew Lisa, Sedo Alicia, Heighway Jacqueline, Pachernegg Svenja, Soriano Armand, Jia Linghan, Blackburn Todd, Roberts Blaine, Nemiroff Alex, Dalby Kelley, Maljevic Snezana, Reid Christopher A, Rigo Frank, Petrou Steven
Abstract excerpt
De novo variation in SCN2A can give rise to severe childhood disorders. Biophysical gain of function in SCN2A is seen in some patients with early seizure onset developmental and epileptic encephalopathy (DEE). In these cases, targeted reduction in SCN2A expression could substantially improve clinical outcomes. We tested this theory by central administration of a gapmer antisense oligonucleotide (ASO) targeting...
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