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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Clin Transl Neurol
Prif Awduron: Devinsky, Orrin, King, LaToya, Bluvstein, Judith, Friedman, Daniel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2021
Pynciau:
Mynediad Ar-lein: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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