Sodium channel protein type 8 subunit alpha

NameSodium channel protein type 8 subunit alpha
SynonymsMED Sodium channel protein type VIII subunit alpha Voltage-gated sodium channel subunit alpha Nav1.6
Gene NameSCN8A
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004086|Sodium channel protein type 8 subunit alpha
MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLE
AGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNL
IRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIAR
GFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTI
VGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF
DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAF
LALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA
TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEI
SKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKF
SIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS
LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIG
GRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCP
PCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQ
FEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL
SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS
YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMV
MVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQ
AHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIID
EDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIK
PEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF
ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF
TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL
VGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLM
EGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYM
YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP
QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLV
FVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIR
LARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA
GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPS
VGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT
QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSG
ELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKT
TSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
Number of residues1980
Molecular Weight225278.005
Theoretical pI6.18
GO Classification
Functions
    ATP binding
voltage-gated sodium channel activity
Processes
    nervous system development
muscle organ development
response to toxic substance
peripheral nervous system development
myelination
neuromuscular process
sodium ion transport
membrane depolarization during action potential
neuronal action potential
sodium ion transmembrane transport
adult walking behavior
sensory perception of sound
Components
    dendrite
node of Ranvier
cytoplasmic membrane-bounded vesicle
Z disc
voltage-gated sodium channel complex
plasma membrane
integral component of membrane
neuronal cell body
axon initial segment
General FunctionVoltage-gated sodium channel activity
Specific FunctionMediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.
Transmembrane Regions128-151 160-179 193-211 218-237 253-277 388-413 748-772 784-807 816-835 842-862 878-898 952-977 1194-1217 1231-1256 1263-1284 1289-1310 1330-1351 1438-1464 1518-1541 1553-1576 1583-1606 1617-1638 1654-1676 1742-1766
GenBank Protein ID4321647
UniProtKB IDQ9UQD0
UniProtKB Entry NameSCN8A_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0019234|Sodium channel protein type 8 subunit alpha (SCN8A)
ATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCACCCCTGAG
TCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCC
GATGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAA
GCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTGCAGTTCCC
CTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGG
AAAACTCTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTG
ATAAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCATTATGTGC
ACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAAT
GTGGAGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGA
GGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGT
GTCATCATGATGGCGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGC
ACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATT
GTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTC
TGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAG
TGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTT
GATTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCATGCTGGAA
CCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATG
AAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTC
TTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTGACTTTA
CGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTC
TATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCA
ACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAG
AAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAA
GATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATC
TCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAA
AAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCA
GAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTT
TCCATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAAC
AGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAG
AATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCC
CTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTAC
AGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAAC
AGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGC
GGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCT
CTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATA
ATGAGTGTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCG
CCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATA
AAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACC
ATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAA
TTTGAACATGTCTTGGCTGTAGGAAATCTGGTTTTCACTGGAATTTTCACAGCGGAAATG
TTCCTGAAGCTCATAGCCATGGATCCCTACTATTATTTCCAAGAAGGTTGGAACATTTTT
GACGGATTTATTGTCTCCCTCAGTTTAATGGAACTGAGTCTAGCAGACGTGGAGGGGCTT
TCAGTGCTGCGATCTTTCCGATTGCTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACC
CTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTG
GTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGC
TACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCAT
GACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACC
ATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTC
ATGGTGATTGGCAACTTGGTGGTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTC
AGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCA
GTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAG
GCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAG
AAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAG
AAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGAT
GAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTG
GGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAA
GGCAGCAAAGATAAACTAGATGACACCAGCTCCTCTGAAGGAAGCACCATTGATATCAAA
CCAGAAGTAGAAGAGGTCCCTGTGGAACAGCCTGAGGAATACTTGGATCCAGATGCCTGC
TTCACAGAAGGTTGTGTCCAGCGGTTCAAGTGCTGCCAGGTCAACATCGAGGAAGGGCTA
GGCAAGTCTTGGTGGATCCTGCGGAAAACCTGCTTCCTCATCGTGGAGCACAACTGGTTT
GAGACCTTCATCATCTTCATGATTCTGCTGAGCAGTGGCGCCCTGGCCTTCGAGGACATC
TACATTGAGCAGAGAAAGACCATCCGCACCATCCTGGAATATGCTGACAAAGTCTTCACC
TATATCTTCATCCTGGAGATGTTGCTCAAGTGGACAGCCTATGGCTTCGTCAAGTTCTTC
ACCAATGCCTGGTGTTGGCTGGACTTCCTCATTGTGGCTGTGGTGGTGAATGCCTTGGTG
GGCGCCATCCCCTCCATCATGAATGTGCTGCTGGTGTGTCTCATCTTCTGGCTGATTTTC
AGCATCATGGGAGTTAACTTGTTTGCGGGAAAGTACCACTACTGCTTTAATGAGACTTCT
GAAATCCGATTTGAAATTGAAGATGTCAACAATAAAACTGAATGTGAAAAGCTTATGGAG
GGGAACAATACAGAGATCAGATGGAAGAACGTGAAGATCAACTTTGACAATGTTGGGGCA
GGATACCTGGCCCTTCTTCAAGTAGCAACCTTCAAAGGCTGGATGGACATCATGTATGCA
GCTGTAGATTCCCGGAAGCCTGATGAGCAGCCTAAGTATGAGGACAATATCTACATGTAC
ATCTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTTCATTGGT
GTCATCATTGATAACTTCAATCAACAAAAGAAAAAGTTCGGAGGTCAGGACATCTTCATG
ACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAG
AAACCTATTCCCCGCCCCTTGAACAAAATCCAAGGAATCGTCTTTGATTTTGTCACTCAG
CAAGCCTTTGACATTGTTATCATGATGCTCATCTGCCTTAACATGGTGACAATGATGGTG
GAGACAGACACTCAAAGCAAGCAGATGGAGAACATCCTCTACTGGATTAACCTGGTGTTT
GTTATCTTCTTCACCTGTGAGTGTGTGCTCAAAATGTTTGCGTTGAGGCACTACTACTTC
ACCATTGGCTGGAACATCTTCGACTTCGTGGTAGTCATCCTCTCCATTGTGGGAATGTTC
CTGGCAGATATAATTGAGAAATACTTTGTTTCCCCAACCCTATTCCGAGTCATCCGATTG
GCCCGTATTGGGCGCATCTTGCGTCTGATCAAAGGCGCCAAAGGGATTCGTACCCTGCTC
TTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCCTGGTC
ATGTTCATCTTCTCCATTTTTGGGATGTCCAATTTTGCATATGTGAAGCACGAGGCTGGT
ATCGATGACATGTTCAACTTTGAGACATTTGGCAACAGCATGATCTGCCTGTTTCAAATC
ACAACCTCAGCTGGTTGGGATGGCCTGCTGCTGCCCATCCTAAACCGCCCCCCTGACTGC
AGCCTAGATAAGGAACACCCAGGGAGTGGCTTTAAGGGAGATTGTGGGAACCCCTCAGTG
GGCATCTTCTTCTTTGTAAGCTACATCATCATCTCTTTCCTAATTGTCGTGAACATGTAC
ATTGCCATCATCCTGGAGAACTTCAGTGTAGCCACAGAGGAAAGTGCAGACCCTCTGAGT
GAGGATGACTTTGAGACCTTCTATGAGATCTGGGAGAAGTTCGACCCCGATGCCACCCAG
TTCATTGAGTACTGTAAGCTGGCAGACTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTG
CCCAAGCCCAATACCATTGAGCTCATCGCTATGGATCTGCCAATGGTGAGCGGGGATCGC
ATCCACTGCTTGGACATCCTTTTTGCCTTCACCAAGCGGGTCCTGGGAGATAGCGGGGAG
TTGGACATCCTGCGGCAGCAGATGGAAGAGCGGTTCGTGGCATCCAATCCTTCCAAAGTG
TCTTACGAGCCAATCACAACCACACTGCGTCGCAAGCAGGAGGAGGTATCTGCAGTGGTC
CTGCAGCGTGCCTACCGGGGACATTTGGCAAGGCGGGGCTTCATCTGCAAAAAGACAACT
TCTAATAAGCTGGAGAATGGAGGCACACACCGGGAGAAAAAAGAGAGCACCCCATCTACA
GCCTCCCTCCCGTCCTATGACAGTGTAACTAAACCTGAAAAGGAGAAACAGCAGCGGGCA
GAGGAAGGAAGAAGGGAAAGAGCCAAAAGACAAAAAGAGGTCAGAGAATCCAAGTGTTAG
GenBank Gene IDAF050736
GeneCard IDNone
GenAtlas IDSCN8A
HGNC IDHGNC:10596
Chromosome Location12
Locus12q13
References
  1. Plummer NW, McBurney MW, Meisler MH: Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. J Biol Chem. 1997 Sep 19;272(38):24008-15.[9295353 ]
  2. Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, Meisler MH: Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics. 1998 Dec 1;54(2):287-96.[9828131 ]
  3. Carrithers MD, Chatterjee G, Carrithers LM, Offoha R, Iheagwara U, Rahner C, Graham M, Waxman SG: Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. J Biol Chem. 2009 Mar 20;284(12):8114-26. doi: 10.1074/jbc.M801892200. Epub 2009 Jan 9.[19136557 ]
  4. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51.[16541075 ]
  5. Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD: Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. J Neurosci. 2004 Jul 28;24(30):6765-75.[15282281 ]
  6. Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH: Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet. 2006 Jun;43(6):527-30. Epub 2005 Oct 19.[16236810 ]
  7. 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: De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet. 2012 Mar 9;90(3):502-10. doi: 10.1016/j.ajhg.2012.01.006. Epub 2012 Feb 23.[22365152 ]
  8. Vaher U, Noukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T: De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18.[24352161 ]
  9. Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H: Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.[24888894 ]
  10. de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP: Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4.[25239001 ]
  11. Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH: A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis. 2014 Sep;69:117-23. doi: 10.1016/j.nbd.2014.05.017. Epub 2014 May 27.[24874546 ]

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