| 1 | SCN8A
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| Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy.
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| Wong JC, Makinson CD, Lamar T, Cheng Q, Wingard JC, Terwilliger EF, Escayg A.
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| Sci Rep 8(1):126. doi: 10.1038/s41598-017-17786-0.
2018
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| 2 | EIEE13, SCN8A
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| Early-onset epileptic encephalopathy with de novo SCN8A mutation.
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| Xiao Y, Xiong J, Mao D, Liu L, Li J, Li X, Luo H, Liu L.
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| Epilepsy Res 139:9-13. doi: 10.1016/j.eplepsyres.2017.10.017. Epub 2017 Oct 28.
2018
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| 3 | RER1, SCN1A, SCN8A
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| The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.
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| Valkova C, Liebmann L, Krämer A, Hübner CA, Kaether C.
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| Sci Rep 7:41248. doi: 10.1038/srep41248.
2017
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| 4 | EIEE13, SCN8A
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| SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
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| Wang J, Gao H, Bao X, Zhang Q, Li J, Wei L, Wu X, Chen Y, Yu S.
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| BMC Med Genet 18(1):104. doi: 10.1186/s12881-017-0460-1.
2017
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| 5 | SCN8A
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| Altered gene expression profile in a mouse model of SCN8A encephalopathy.
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| Sprissler RS, Wagnon JL, Bunton-Stasyshyn RK, Meisler MH, Hammer MF.
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| Exp Neurol 288:134-141. doi: 10.1016/j.expneurol.2016.11.002. Epub 2016 Nov 9.
2017
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| 6 | EIEE13, SCN8A
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| The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.
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| Barker BS, Ottolini M, Wagnon JL, Hollander RM, Meisler MH, Patel MK.
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| Epilepsia 57(9):1458-66. doi: 10.1111/epi.13461. Epub 2016 Jul 4.
2016
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| 7 | FGF14, SCN8A
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| Identification of Amino Acid Residues in Fibroblast Growth Factor 14 (FGF14) Required for Structure-Function Interactions with Voltage-gated Sodium Channel Nav1.6.
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| Ali SR, Singh AK, Laezza F.
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| J Biol Chem 291(21):11268-84. doi: 10.1074/jbc.M115.703868. Epub 2016 Mar 18.
2016
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| 8 | SCN8A
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| Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.
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| Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH.
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| Neurobiol Dis 89:36-45. doi: 10.1016/j.nbd.2016.01.018. Epub 2016 Jan 22.
2016
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| 9 | EIEE13, SCN8A
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| SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
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| Kong W, Zhang Y, Gao Y, Liu X, Gao K, Xie H, Wang J, Wu Y, Zhang Y, Wu X, Jiang Y.
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| Epilepsia 56(3):431-8. doi: 10.1111/epi.12925. Epub 2015 Feb 26.
2015
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| 10 | APP, SCN8A
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| Amyloid precursor protein enhances Nav1.6 sodium channel cell surface expression.
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| Liu C, Tan FC, Xiao ZC, Dawe GS.
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| J Biol Chem 290(19):12048-57. doi: 10.1074/jbc.M114.617092. Epub 2015 Mar 12.
2015
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| 11 | SCN8A
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| Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.
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| Makinson CD, Tanaka BS, Lamar T, Goldin AL, Escayg A.
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| Neurobiol Dis 68:16-25. doi: 10.1016/j.nbd.2014.03.014. Epub 2014 Apr 2.
2014
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| 12 | PUM1, PUM2, SCN8A
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| Pumilio-2 regulates translation of Nav1.6 to mediate homeostasis of membrane excitability.
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| Driscoll HE, Muraro NI, He M, Baines RA.
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| J Neurosci 33(23):9644-54. doi: 10.1523/JNEUROSCI.0921-13.2013.
2013
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| 13 | CALM1, SCN8A
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| Structural basis for the modulation of the neuronal voltage-gated sodium channel NaV1.6 by calmodulin.
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| Reddy Chichili VP, Xiao Y, Seetharaman J, Cummins TR, Sivaraman J.
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| Sci Rep 3:2435. doi: 10.1038/srep02435.
2013
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| 14 | IEED, SCN8A
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| De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP.
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| Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF.
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| Am J Hum Genet 90(3):502-510. Epub 2012 Feb 23. 2012
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| 15 | MAP1B, SCN8A
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| Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b.
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| O'Brien JE, Sharkey LM, Vallianatos CN, Han C, Blossom JC, Yu T, Waxman SG, Dib-Hajj SD, Meisler MH.
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| J Biol Chem 287(22):18459-66. doi: 10.1074/jbc.M111.336024. Epub 2012 Apr 3.
2012
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| 16 | SCN8A
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| Reduced Retinal Function in the Absence of Na(v)1.6.
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| Smith BJ, Côté PD.
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| PLoS One 7(2):e31476. doi: 10.1371/journal.pone.0031476. Epub 2012 Feb 15.
2012
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| 17 | SCN10A, SCN8A
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| Regulation of Nav1.6 and Nav1.8 peripheral nerve Na+ channels by auxiliary β-subunits.
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| Zhao J, O'Leary ME, Chahine M.
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| J Neurophysiol 106(2):608-19. doi: 10.1152/jn.00107.2011. Epub 2011 May 11. 2011
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| 18 | NEDD4L, SCN8A
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| Two Nedd4-binding motifs underlie modulation of sodium channel Nav1.6 by p38 MAPK.
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| Gasser A, Cheng X, Gilmore ES, Tyrrell L, Waxman SG, Dib-Hajj SD.
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| J Biol Chem 285(34):26149-61. doi: 10.1074/jbc.M109.098681. Epub 2010 Jun 8.
2010
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| 19 | SCN8A
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| Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A.
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| Carrithers MD, Chatterjee G, Carrithers LM, Offoha R, Iheagwara U, Rahner C, Graham M, Waxman SG.
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| J Biol Chem 284(12):8114-26. Epub 2009 Jan 9.
2009
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| 20 | SCN8A
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| Functional properties and differential neuromodulation of Na(v)1.6 channels.
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| Chen Y, Yu FH, Sharp EM, Beacham D, Scheuer T, Catterall WA.
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| Mol Cell Neurosci 38(4):607-15. Epub 2008 May 20.
2008
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| 21 | SCN8A
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| Role of the amino and carboxy termini in isoform-specific sodium channel variation.
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| Lee A, Goldin AL.
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| J Physiol 586(16):3917-26. Epub 2008 Jun 19.
2008
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| 22 | SCN8A, SCN1A
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| The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
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| Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.
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| Hum Mol Genet 16(23):2892-9. Epub 2007 Sep 19. 2007
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| 23 | SCN8A
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| Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A.
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| Drews VL, Shi K, de Haan G, Meisler MH.
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| Mamm Genome 18(10):723-31. Epub 2007 Oct 9.
2007
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| 24 | SCN8A, CAAMR
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| Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
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| Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH.
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| J Med Genet 43(6):527-30. Epub 2005 Oct 19. 2006
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| 25 | SCN8A
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| Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter.
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| Drews VL, Lieberman AP, Meisler MH.
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| Genomics 85(2):245-57. 2005
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| 26 | SCN8A
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| Molecular cloning, distribution and functional analysis of the NA(V)1.6. Voltage-gated sodium channel from human brain.
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| Burbidge SA, Dale TJ, Powell AJ, Whitaker WR, Xie XM, Romanos MA, Clare JJ.
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| Brain Res Mol Brain Res 103(1-2):80-90. 2002
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| 27 | D12S2211, SCN8A
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| Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.
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| Plummer NW, et al.
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| Genomics 54 : 287-296. 1998
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| 28 | SCN8A
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| Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.
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| Plummer NW, McBurney MW, Meisler MH.
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| J Biol Chem 272(38):24008-15. 1997
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| 29 | SCN8A
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| Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor end plate disease'.
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| Burgess DL, et al.
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| Nat Genet 10 : 461-465. 1995
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