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Sodium channel SCN8A (Na(v)1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

The sodium channel Na(v)1.6, encoded by the gene SCN8A, is one of the major voltage-gated channels in human brain. The sequences of sodium channels have been highly conserved during evolution, and minor changes in biophysical properties can have a major impact in vivo. Insight into the role of Na(v)...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: O'Brien, Janelle E., Meisler, Miriam H.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3809569/
https://ncbi.nlm.nih.gov/pubmed/24194747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2013.00213
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