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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書誌詳細
出版年:Ann Neurol
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2020
主題:
Research Articles
オンライン･アクセス: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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