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SCN1A Splice Variants Exhibit Divergent Sensitivity to Commonly Used Antiepileptic Drugs
PURPOSE: A common genetic variant (rs3812718) in a splice donor consensus sequence within the neuronal sodium channel gene SCN1A (encoding Na(V)1.1) modulates the proportion of transcripts incorporating either the canonical (5A) or alternative (5N) exon 5. A pharmacogenetic association has been repo...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3093448/ https://ncbi.nlm.nih.gov/pubmed/21453355 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1528-1167.2011.03040.x |
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