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Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder

OBJECTIVE: Ataluren is a compound that reads through premature stop codons and increases protein expression by increasing translation without modifying transcription or mRNA stability. We investigated the safety and efficacy of ataluren in children with nonsense variants causing Dravet Syndrome (DS)...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Devinsky, Orrin, King, LaToya, Bluvstein, Judith, Friedman, Daniel
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7951093/
https://ncbi.nlm.nih.gov/pubmed/33538404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51306
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