Sodium channel protein type 4 subunit alpha

Details

Name
Sodium channel protein type 4 subunit alpha
Synonyms
  • SkM1
  • Sodium channel protein skeletal muscle subunit alpha
  • Sodium channel protein type IV subunit alpha
  • Voltage-gated sodium channel subunit alpha Nav1.4
Gene Name
SCN4A
Organism
Humans
Amino acid sequence
>lcl|BSEQ0011510|Sodium channel protein type 4 subunit alpha
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEA
GKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVV
RRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARG
FCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTW
YGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLC
GNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEA
HQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHY
PMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQGWNIFDSIIVTLSLVELGLA
NVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLT
VFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLA
DGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTL
RRACFKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEM
LLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYSELGPIKSLRTLRALRPLRAL
SRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYY
NAMKKLGSKKPQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQL
KVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFG
MSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENP
GTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMF
YETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRR
HLLQRSMKQASYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGD
AGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV
Number of residues
1836
Molecular Weight
208059.175
Theoretical pI
4.72
GO Classification
Functions
voltage-gated sodium channel activity
Processes
membrane depolarization during action potential / muscle contraction / neuronal action potential / sodium ion transmembrane transport / sodium ion transport
Components
integral component of plasma membrane / plasma membrane / voltage-gated sodium channel complex
General Function
Voltage-gated sodium channel activity
Specific Function
This protein 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. This sodium channel may be present in both denervated and innervated skeletal muscle.
Pfam Domain Function
Transmembrane Regions
129-150 159-178 191-210 217-236 253-266 424-449 574-597 609-632 641-660 667-686 702-724 777-802 1027-1049 1064-1089 1096-1116 1122-1143 1163-1184 1269-1295 1349-1372 1384-1407 1414-1437 1447-1469 1485-1507 1574-1598
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0011511|Sodium channel protein type 4 subunit alpha (SCN4A)
ATGGCCAGACCATCTCTGTGCACCCTGGTGCCTCTGGGCCCTGAGTGCTTGCGCCCCTTC
ACCCGGGAGTCACTGGCAGCCATAGAACAGCGGGCGGTGGAGGAGGAGGCCCGGCTGCAG
CGGAATAAGCAGATGGAGATTGAGGAGCCCGAACGGAAGCCACGAAGTGACTTGGAGGCT
GGCAAGAACCTACCCATGATCTACGGAGACCCCCCGCCGGAGGTCATCGGCATCCCCCTG
GAGGACCTGGATCCCTACTACAGCAATAAGAAGACCTTCATCGTACTCAACAAGGGCAAG
GCCATCTTCCGCTTCTCCGCCACACCTGCTCTCTACCTGCTGAGCCCCTTCAGCGTAGTC
AGGCGCGGGGCCATCAAGGTGCTCATCCATGCGCTGTTCAGCATGTTCATCATGATCACC
ATCTTGACCAACTGCGTATTCATGACCATGAGTGACCCGCCTCCCTGGTCCAAGAATGTG
GAGTACACCTTCACAGGGATCTACACCTTTGAGTCCCTCATCAAGATACTGGCCCGAGGC
TTCTGTGTCGACGACTTCACATTCCTCCGGGACCCCTGGAACTGGCTGGACTTCAGTGTC
ATCATGATGGCGTACCTGACAGAGTTTGTGGACTTGGGCAACATCTCAGCCCTGAGGACC
TTCCGGGTGCTGCGGGCCCTCAAAACCATCACGGTCATCCCAGGGCTGAAGACGATCGTG
GGGGCCCTGATCCAGTCGGTGAAAAAGCTGTCGGATGTGATGATCCTCACTGTCTTCTGC
CTGAGCGTCTTTGCGCTGGTAGGACTGCAGCTCTTCATGGGAAACCTGAGGCAGAAGTGT
GTGCGCTGGCCCCCGCCGTTCAACGACACCAACACCACGTGGTACAGCAATGACACGTGG
TACGGCAATGACACATGGTATGGCAATGAGATGTGGTACGGCAATGACTCATGGTATGCC
AACGACACGTGGAACAGCCATGCAAGCTGGGCCACCAACGATACCTTTGATTGGGACGCC
TACATCAGTGATGAAGGGAACTTCTACTTCCTGGAGGGCTCCAACGATGCCCTGCTCTGT
GGGAACAGCAGTGATGCTGGGCACTGCCCTGAGGGTTATGAGTGCATCAAGACCGGGCGG
AACCCCAACTATGGCTACACCAGCTATGACACCTTCAGCTGGGCCTTCTTGGCTCTCTTC
CGCCTCATGACACAGGACTATTGGGAGAACCTCTTCCAGCTGACCCTTCGAGCAGCTGGC
AAGACCTACATGATCTTCTTCGTGGTCATCATCTTCCTGGGCTCTTTCTACCTCATCAAT
CTGATCCTGGCCGTGGTGGCCATGGCATATGCCGAGCAGAATGAGGCCACCCTGGCCGAG
GATAAGGAGAAAGAGGAGGAGTTTCAGCAGATGCTTGAGAAGTTCAAAAAGCACCAGGAG
GAGCTGGAGAAGGCCAAGGCCGCCCAAGCTCTGGAAGGTGGGGAGGCAGATGGGGACCCA
GCCCATGGCAAAGACTGCAATGGCAGCCTGGACACATCGCAAGGGGAGAAGGGAGCCCCG
AGGCAGAGCAGCAGCGGAGACAGCGGCATCTCCGACGCCATGGAAGAACTGGAAGAGGCC
CACCAAAAGTGCCCACCATGGTGGTACAAGTGCGCCCACAAAGTGCTCATATGGAACTGC
TGCGCCCCGTGGCTGAAGTTCAAGAACATCATCCACCTGATCGTCATGGACCCGTTCGTG
GACCTGGGCATCACCATCTGCATCGTGCTCAACACCCTCTTCATGGCCATGGAACATTAC
CCCATGACGGAGCACTTTGACAACGTGCTCACTGTGGGCAACCTGGTCTTCACAGGCATC
TTCACAGCAGAGATGGTTCTGAAGCTGATTGCCATGGACCCCTACGAGTATTTCCAGCAG
GGTTGGAATATCTTCGACAGCATCATCGTCACCCTCAGCCTGGTAGAGCTAGGCCTGGCC
AACGTACAGGGACTGTCTGTGCTACGCTCCTTCCGTCTGCTGCGGGTCTTCAAGCTGGCC
AAGTCGTGGCCAACGCTGAACATGCTCATCAAGATCATTGGCAATTCAGTGGGGGCGCTG
GGTAACCTGACGCTGGTGCTGGCTATCATCGTGTTCATCTTCGCCGTGGTGGGCATGCAG
CTGTTTGGCAAGAGCTACAAGGAGTGCGTGTGCAAGATTGCCTTGGACTGCAACCTGCCG
CGCTGGCACATGCATGATTTCTTCCACTCCTTCCTCATCGTCTTCCGCATCCTGTGCGGG
GAGTGGATCGAGACCATGTGGGACTGCATGGAGGTGGCCGGCCAAGCCATGTGCCTCACC
GTCTTCCTCATGGTCATGGTCATCGGCAATCTTGTGGTCCTGAACCTGTTCCTGGCTCTG
CTGCTGAGCTCCTTCAGCGCCGACAGTCTGGCAGCCTCGGATGAGGATGGCGAGATGAAC
AACCTGCAGATTGCCATCGGGCGCATCAAGTTGGGCATCGGCTTTGCCAAGGCCTTCCTC
CTGGGGCTGCTGCATGGCAAGATCCTGAGCCCCAAGGACATCATGCTCAGCCTCGGGGAG
GCTGACGGGGCCGGGGAGGCTGGAGAGGCGGGGGAGACTGCCCCCGAGGATGAGAAGAAG
GAGCCGCCCGAGGAGGACCTGAAGAAGGACAATCACATCCTGAACCACATGGGCCTGGCT
GACGGCCCCCCATCCAGCCTCGAGCTGGACCACCTTAACTTCATCAACAACCCCTACCTG
ACCATACAGGTGCCCATCGCCTCCGAGGAGTCCGACCTGGAGATGCCCACCGAGGAGGAA
ACCGACACTTTCTCAGAGCCTGAGGATAGCAAGAAGCCGCCGCAGCCTCTCTATGATGGG
AACTCGTCCGTCTGCAGCACAGCTGACTACAAGCCCCCCGAGGAGGACCCTGAGGAGCAG
GCAGAGGAGAACCCCGAGGGGGAGCAGCCTGAGGAGTGCTTCACTGAGGCCTGCGTGCAG
CGCTGGCCCTGCCTCTACGTGGACATCTCCCAGGGCCGTGGGAAGAAGTGGTGGACTCTG
CGCAGGGCCTGCTTCAAGATTGTCGAGCACAACTGGTTCGAGACCTTCATTGTCTTCATG
ATCCTGCTCAGCAGTGGGGCTCTGGCCTTCGAGGACATCTACATTGAGCAGCGGCGAGTC
ATTCGCACCATCCTAGAATATGCCGACAAGGTCTTCACCTACATCTTCATCATGGAGATG
CTGCTCAAATGGGTGGCCTACGGCTTTAAGGTGTACTTCACCAACGCCTGGTGCTGGCTC
GACTTCCTCATCGTGGATGTCTCCATCATCAGCTTGGTGGCCAACTGGCTGGGCTACTCG
GAGCTGGGACCCATCAAATCCCTGCGGACACTGCGGGCCCTGCGTCCCCTGAGGGCACTG
TCCCGATTCGAGGGCATGAGGGTGGTGGTGAACGCCCTCCTAGGCGCCATCCCCTCCATC
ATGAATGTGCTGCTTGTCTGCCTCATCTTCTGGCTGATCTTCAGCATCATGGGTGTCAAC
CTGTTTGCCGGCAAGTTCTACTACTGCATCAACACCACCACCTCTGAGAGGTTCGACATC
TCCGAGGTCAACAACAAGTCTGAGTGCGAGAGCCTCATGCACACAGGCCAGGTCCGCTGG
CTCAATGTCAAGGTCAACTACGACAACGTGGGTCTGGGCTACCTCTCCCTCCTGCAGGTG
GCCACCTTCAAGGGTTGGATGGACATCATGTATGCAGCCGTGGACTCCCGGGAGAAGGAG
GAGCAGCCGCAGTACGAGGTGAACCTCTACATGTACCTCTACTTTGTCATCTTCATCATC
TTTGGCTCCTTCTTCACCCTCAACCTCTTCATTGGCGTCATCATTGACAACTTCAACCAG
CAGAAGAAGAAGTTAGGGGGGAAAGACATCTTTATGACGGAGGAACAGAAGAAATACTAT
AACGCCATGAAGAAGCTTGGCTCCAAGAAGCCTCAGAAGCCAATTCCCCGGCCCCAGAAC
AAGATCCAGGGCATGGTGTATGACCTCGTGACGAAGCAGGCCTTCGACATCACCATCATG
ATCCTCATCTGCCTCAACATGGTCACCATGATGGTGGAGACAGACAACCAGAGCCAGCTC
AAGGTGGACATCCTGTACAACATCAACATGATCTTCATCATCATCTTCACAGGGGAGTGC
GTGCTCAAGATGCTCGCCCTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGAC
TTCGTGGTCGTCATCCTGTCCATTGTGGGCCTTGCCCTCTCTGACCTGATCCAGAAGTAC
TTCGTGTCACCCACGCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGG
CTGATCCGCGGGGCCAAGGGCATCCGGACGCTGCTGTTCGCCCTCATGATGTCGCTGCCT
GCCCTCTTCAACATCGGCCTCCTCCTCTTCCTGGTCATGTTCATCTACTCCATCTTCGGC
ATGTCCAACTTTGCCTACGTCAAGAAGGAGTCGGGCATCGATGATATGTTCAACTTCGAG
ACCTTCGGCAACAGCATCATCTGCCTGTTCGAGATCACCACGTCGGCCGGCTGGGACGGG
CTCCTCAACCCCATCCTCAACAGCGGGCCCCCAGACTGTGACCCCAACCTGGAGAACCCG
GGCACCAGTGTCAAGGGTGACTGCGGCAACCCCTCCATCGGCATCTGCTTCTTCTGCAGC
TATATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATCGCCATCATCCTGGAGAAC
TTCAATGTGGCCACAGAGGAGAGCAGCGAGCCCCTTGGTGAAGATGACTTTGAGATGTTC
TACGAGACATGGGAGAAGTTCGACCCCGACGCCACCCAGTTCATCGCCTACAGCCGCCTC
TCAGACTTCGTGGACACCCTGCAGGAACCGCTGAGGATTGCCAAGCCCAACAAGATCAAG
CTCATCACACTGGACTTGCCCATGGTGCCAGGGGACAAGATCCACTGCCTGGACATCCTC
TTTGCCCTGACCAAAGAGGTCCTGGGTGACTCTGGGGAAATGGACGCCCTCAAGCAGACC
ATGGAGGAGAAGTTCATGGCAGCCAACCCCTCCAAGGTGTCCTACGAGCCCATCACCACC
ACCCTCAAGAGGAAGCACGAGGAGGTGTGCGCCATCAAGATCCAGAGGGCCTACCGCCGG
CACCTGCTACAGCGCTCCATGAAGCAGGCATCCTACATGTACCGCCACAGCCACGACGGC
AGCGGGGATGACGCCCCTGAGAAGGAGGGGCTGCTTGCCAACACCATGAGCAAGATGTAT
GGCCACGAGAATGGGAACAGCAGCTCGCCAAGCCCGGAGGAGAAGGGCGAGGCAGGGGAC
GCCGGACCCACTATGGGGCTGATGCCCATCAGCCCCTCAGACACTGCCTGGCCTCCCGCC
CCTCCCCCAGGGCAGACTGTGCGCCCAGGTGTCAAGGAGTCTCTTGTCTAG
Chromosome Location
17
Locus
17q23-q25.3
External Identifiers
ResourceLink
UniProtKB IDP35499
UniProtKB Entry NameSCN4A_HUMAN
GenBank Protein ID338213
GenBank Gene IDM81758
GenAtlas IDSCN4A
HGNC IDHGNC:10591
General References
  1. George AL Jr, Komisarof J, Kallen RG, Barchi RL: Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol. 1992 Feb;31(2):131-7. [Article]
  2. Wang JZ, Rojas CV, Zhou JH, Schwartz LS, Nicholas H, Hoffman EP: Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q. Biochem Biophys Res Commun. 1992 Jan 31;182(2):794-801. [Article]
  3. Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG: Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. Epub 2003 May 23. [Article]
  4. McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF: The genomic structure of the human skeletal muscle sodium channel gene. Hum Mol Genet. 1992 Oct;1(7):521-7. [Article]
  5. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [Article]
  6. McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al.: Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769-74. [Article]
  7. Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF: Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29;67(5):1021-7. [Article]
  8. Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr: A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 1991 Dec 5;354(6352):387-9. [Article]
  9. McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH Jr: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet. 1992 Oct;2(2):148-52. [Article]
  10. Ptacek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF: Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992 May;8(5):891-7. [Article]
  11. Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF: Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar;33(3):300-7. [Article]
  12. Lerche H, Heine R, Pika U, George AL Jr, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M, et al.: Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 1993 Oct;470:13-22. [Article]
  13. Heine R, Pika U, Lehmann-Horn F: A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet. 1993 Sep;2(9):1349-53. [Article]
  14. Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al.: Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug;44(8):1500-3. [Article]
  15. Baquero JL, Ayala RA, Wang J, Curless RG, Feero WG, Hoffman EP, Ebeid MR: Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation? Ann Neurol. 1995 Mar;37(3):408-11. [Article]
  16. Koch MC, Baumbach K, George AL, Ricker K: Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). Neuroreport. 1995 Oct 23;6(15):2001-4. [Article]
  17. Rosenfeld J, Sloan-Brown K, George AL Jr: A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol. 1997 Nov;42(5):811-4. [Article]
  18. Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S: A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. Arch Neurol. 1999 Jun;56(6):692-6. [Article]
  19. Wang DW, VanDeCarr D, Ruben PC, George AL Jr, Bennett PB: Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. FEBS Lett. 1999 Apr 9;448(2-3):231-4. [Article]
  20. Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC: A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology. 1999 Dec 10;53(9):1932-6. [Article]
  21. Davies NP, Eunson LH, Gregory RP, Mills KR, Morrison PJ, Hanna MG: Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. J Neurol Neurosurg Psychiatry. 2000 Apr;68(4):504-7. [Article]
  22. Sugiura Y, Aoki T, Sugiyama Y, Hida C, Ogata M, Yamamoto T: Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. Neurology. 2000 Jun 13;54(11):2179-81. [Article]
  23. Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54. [Article]
  24. Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ: Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol. 2001 Sep;50(3):417-20. [Article]
  25. Davies NP, Eunson LH, Samuel M, Hanna MG: Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Neurology. 2001 Oct 9;57(7):1323-5. [Article]
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  27. Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B: New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology. 2004 Dec 14;63(11):2120-7. [Article]
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  29. Fournier E, Viala K, Gervais H, Sternberg D, Arzel-Hezode M, Laforet P, Eymard B, Tabti N, Willer JC, Vial C, Fontaine B: Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol. 2006 Sep;60(3):356-65. [Article]
  30. Carle T, Lhuillier L, Luce S, Sternberg D, Devuyst O, Fontaine B, Tabti N: Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. Epub 2006 Jul 28. [Article]
  31. Colding-Jorgensen E, Duno M, Vissing J: Autosomal dominant monosymptomatic myotonia permanens. Neurology. 2006 Jul 11;67(1):153-5. [Article]
  32. Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. J Korean Med Sci. 2007 Dec;22(6):946-51. [Article]
  33. Schoser BG, Schroder JM, Grimm T, Sternberg D, Kress W: A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. Muscle Nerve. 2007 May;35(5):599-606. [Article]
  34. Rossignol E, Mathieu J, Thiffault I, Tetreault M, Dicaire MJ, Chrestian N, Dupre N, Puymirat J, Brais B: A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 2007 Nov 13;69(20):1937-41. [Article]
  35. Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C: Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A. 2008 Feb 1;146A(3):380-3. doi: 10.1002/ajmg.a.32141. [Article]
  36. Xiuhai G, Weiping W, Ke Z, Hongbin W, Yiling S, MaoYanling: Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. Cell Mol Neurobiol. 2008 Aug;28(5):653-61. Epub 2007 Nov 29. [Article]
  37. Groome JR, Larsen MF, Coonts A: Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. Channels (Austin). 2008 Jan-Feb;2(1):39-50. Epub 2008 Apr 7. [Article]
  38. Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, Stanley E, Cea G, Davis MB, Hanna MG: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94. [Article]
  39. Webb J, Cannon SC: Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. Neurology. 2008 Mar 4;70(10):755-61. Epub 2007 Sep 26. [Article]
  40. Petitprez S, Tiab L, Chen L, Kappeler L, Rosler KM, Schorderet D, Abriel H, Burgunder JM: A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. Neurology. 2008 Nov 18;71(21):1669-75. doi: 10.1212/01.wnl.0000335168.86248.55. [Article]
  41. Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS: Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. J Clin Neurol. 2009 Dec;5(4):186-91. doi: 10.3988/jcn.2009.5.4.186. Epub 2009 Dec 31. [Article]
  42. Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K: New mutation of the Na channel in the severe form of potassium-aggravated myotonia. Muscle Nerve. 2009 May;39(5):666-73. doi: 10.1002/mus.21155. [Article]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01195Flecainideapproved, withdrawnyesinhibitorDetails
DB00909Zonisamideapproved, investigationalyesinhibitorDetails
DB00818Propofolapproved, investigational, vet_approvedunknowninhibitorDetails
DB13154ParachlorophenolapprovedunknownDetails
DB00281Lidocaineapproved, vet_approvedunknownDetails
DB00586Diclofenacapproved, vet_approvedunknowninhibitorDetails
DB00907Cocaineapproved, illicityesinhibitorDetails
DB00313Valproic acidapproved, investigationalunknowninhibitorDetails
DB05541Brivaracetamapproved, investigationalyesinhibitorDetails
DB13961Fish oilapproved, nutraceuticalunknowninhibitorDetails
DB13269Dichlorobenzyl alcoholapprovedyesantagonistDetails
DB00243Ranolazineapproved, investigationalunknowninhibitorDetails
DB00776OxcarbazepineapprovedunknowninhibitorDetails
DB00564Carbamazepineapproved, investigationalyesinhibitorDetails
DB00273TopiramateapprovedyesinhibitorDetails
DB00555Lamotrigineapproved, investigationalyesinhibitorDetails
DB11186Pentoxyverineapproved, investigational, withdrawnunknowninhibitorDetails
DB13746Bioallethrinapproved, experimentalunknownmodulatorDetails
DB09342PropoxycaineapprovedyesblockerDetails
DB09088Amylocaineapproved, withdrawnyesblockerDetails
DB09345PramocaineapprovedyesblockerDetails
DB09085Tetracaineapproved, vet_approvedyesblockerDetails
DB01069Promethazineapproved, investigationalunknowninhibitorDetails
DB01161Chloroprocaineapproved, investigationalyesinhibitorDetails