SCN8A

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Sodium channel, voltage gated, type VIII, alpha subunit also known as SCN8A or Nav1.6 is a protein which in humans is encoded by the SCN8A gene.[1] It is a voltage-gated sodium channel.

The ion channel was discovered by John Caldwell and colleagues at the University of Colorado Health Sciences Center in the rat,[2] and by Miriam Meisler and colleagues at the University of Michigan Medical School in the mouse.[3]

Mutations in this gene have been associated to cases of early infantile epileptic encephalopathy (PMID 24352161). The first known mutation in humans was a missense (c.5302A>G [p.Asn1768Asp]) mutation discovered by Krishna Veeramah and Michael Hammer at the University of Arizona.[4]

An SCN8A Website and Registry has been established at the University of Arizona and approved by the Institutional Review Board for collecting information from families about SCN8A-related epilepsy (http://www.scn8a.net).


See also

References

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Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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