Sodium channel protein type 8 subunit alpha
Details
- Name
- Sodium channel protein type 8 subunit alpha
- Synonyms
- MED
- Sodium channel protein type VIII subunit alpha
- Voltage-gated sodium channel subunit alpha Nav1.6
- Gene Name
- SCN8A
- Organism
- Humans
- 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 residues
- 1980
- Molecular Weight
- 225278.005
- Theoretical pI
- 6.18
- GO Classification
- FunctionsATP binding / voltage-gated sodium channel activityProcessesadult walking behavior / membrane depolarization during action potential / muscle organ development / myelination / nervous system development / neuromuscular process / neuronal action potential / peripheral nervous system development / response to toxic substance / sensory perception of sound / sodium ion transmembrane transport / sodium ion transportComponentsaxon initial segment / cytoplasmic membrane-bounded vesicle / dendrite / integral component of membrane / neuronal cell body / node of Ranvier / plasma membrane / voltage-gated sodium channel complex / Z disc
- General Function
- Voltage-gated sodium channel activity
- Specific Function
- Mediates 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.
- Pfam Domain Function
- Transmembrane Regions
- 128-151 160-179 193-211 218-237 253-277 388-413 748-772 784-807 816-835 842-862 878-898 952-977 1194-1217 1231-1256 1263-1284 1289-1310 1330-1351 1438-1464 1518-1541 1553-1576 1583-1606 1617-1638 1654-1676 1742-1766
- Cellular Location
- Membrane
- 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
- Chromosome Location
- 12
- Locus
- 12q13
- External Identifiers
Resource Link UniProtKB ID Q9UQD0 UniProtKB Entry Name SCN8A_HUMAN GenBank Protein ID 4321647 GenBank Gene ID AF050736 GenAtlas ID SCN8A HGNC ID HGNC:10596 - General References
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB05232 Tetrodotoxin investigational unknown Details DB00252 Phenytoin approved, vet_approved yes inhibitor Details DB00907 Cocaine approved, illicit yes inhibitor Details DB00313 Valproic acid approved, investigational unknown inhibitor Details DB05541 Brivaracetam approved, investigational yes inhibitor Details DB13961 Fish oil approved, nutraceutical unknown inhibitor Details DB13269 Dichlorobenzyl alcohol approved yes antagonist Details DB00243 Ranolazine approved, investigational unknown inhibitor Details DB00776 Oxcarbazepine approved unknown inhibitor Details DB00564 Carbamazepine approved, investigational yes inhibitor Details DB00273 Topiramate approved yes inhibitor Details DB00555 Lamotrigine approved, investigational yes inhibitor Details DB11186 Pentoxyverine approved, investigational, withdrawn unknown inhibitor Details DB13746 Bioallethrin approved, experimental unknown modulator Details DB09342 Propoxycaine approved yes blocker Details DB09088 Amylocaine approved, withdrawn yes blocker Details DB09345 Pramocaine approved yes blocker Details DB09085 Tetracaine approved, vet_approved yes blocker Details DB01069 Promethazine approved, investigational unknown inhibitor Details DB01161 Chloroprocaine approved, investigational yes inhibitor Details