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Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

The sodium channel Nav1.6, 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 Nav1....

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Autori principali: Janelle Elizabeth O'Brien, Miriam H Meisler
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2013-10-01
Serie:Frontiers in Genetics
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Accesso online:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00213/full
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