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Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy
OBJECTIVE: The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage‐gated sodium channel Na(v)1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the...
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| Veröffentlicht in: | Ann Clin Transl Neurol |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
John Wiley and Sons Inc.
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4748308/ https://ncbi.nlm.nih.gov/pubmed/26900580 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.276 |
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