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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Detalles Bibliográficos
Autores principales: Wagnon, Jacy L., Barker, Bryan S., Hounshell, James A., Haaxma, Charlotte A., Shealy, Amy, Moss, Timothy, Parikh, Sumit, Messer, Ricka D., Patel, Manoj K., Meisler, Miriam H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748308/
https://www.ncbi.nlm.nih.gov/pubmed/26900580
http://dx.doi.org/10.1002/acn3.276

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748308/
https://www.ncbi.nlm.nih.gov/pubmed/26900580
http://dx.doi.org/10.1002/acn3.276

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