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Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

OBJECTIVE: SCN8A encephalopathy is a developmental and epileptic encephalopathy (DEE) caused by de novo gain‐of‐function mutations of sodium channel Na(v)1.6 that result in neuronal hyperactivity. Affected individuals exhibit early onset drug‐resistant seizures, developmental delay, and cognitive im...

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Vydáno v:Ann Neurol
Hlavní autoři: Lenk, Guy M., Jafar‐Nejad, Paymaan, Hill, Sophie F., Huffman, Lucas D., Smolen, Corrine E., Wagnon, Jacy L., Petit, Hayley, Yu, Wenxi, Ziobro, Julie, Bhatia, Kritika, Parent, Jack, Giger, Roman J., Rigo, Frank, Meisler, Miriam H.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7064908/
https://ncbi.nlm.nih.gov/pubmed/31943325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25676
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