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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Nav1.6 ： ウィキペディア英語版 SCN8A 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.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6334 )〕 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,〔(【引用サイトリンク】url=http://www.jneurosci.org/cgi/reprint/15/5/3231 )〕 and by Miriam Meisler and colleagues at the University of Michigan Medical School in the mouse.〔(【引用サイトリンク】url=http://www.nature.com/ng/journal/v10/n4/abs/ng0895-461.html )〕 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 ()) mutation discovered by Krishna Veeramah and Michael Hammer at the University of Arizona.〔(【引用サイトリンク】url = http://www.cell.com/ajhg/abstract/S0002-9297(12)00038-9 )〕 ==See also== * Sodium channel 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「SCN8A」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.