Tmic
You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Toxin, Toxin Target Database.
NameSodium 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 NameSCN4A
OrganismHuman
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 residues1836
Molecular Weight208059.175
Theoretical pI4.72
GO Classification
Functions
  • voltage-gated sodium channel activity
Processes
  • sodium ion transmembrane transport
  • membrane depolarization during action potential
  • neuronal action potential
  • muscle contraction
  • sodium ion transport
Components
  • voltage-gated sodium channel complex
  • plasma membrane
  • integral component of plasma membrane
General FunctionVoltage-gated sodium channel activity
Specific FunctionThis 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 Regions129-150 159-178 191-210 217-236 253-266 424-449 574-597 609-632 641-660 667-686 702-724 777-802 1027-1049 1064-1089 1096-1116 1122-1143 1163-1184 1269-1295 1349-1372 1384-1407 1414-1437 1447-1469 1485-1507 1574-1598
GenBank Protein ID338213
UniProtKB IDP35499
UniProtKB Entry NameSCN4A_HUMAN
Cellular LocationMembrane
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
GenBank Gene IDM81758
GeneCard IDNot Available
GenAtlas IDSCN4A
HGNC IDHGNC:10591
Chromosome Location17
Locus17q23-q25.3
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. 1315496
  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. 1310396
  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. 12766226
  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. 1339144
  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. 16625196
  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. 1310898
  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. 1659948
  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. 1659668
  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. 1338909
  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. 1316765
  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. 8388676
  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. 8308722
  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. 8242056
  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. 8058156
  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. 7695243
  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. 8580427
  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. 9392583
  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. 10369308
  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. 10218481
  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. 10599760
  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. 10727489
  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. 10851391
  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. 10944223
  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. 11558801
  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. 11591859
  26. Dice MS, Abbruzzese JL, Wheeler JT, Groome JR, Fujimoto E, Ruben PC: Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. Muscle Nerve. 2004 Sep;30(3):277-88. 15318338
  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. 15596759
  28. Bouhours M, Luce S, Sternberg D, Willer JC, Fontaine B, Tabti N: A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. J Physiol. 2005 Jun 1;565(Pt 2):415-27. Epub 2005 Mar 24. 15790667
  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. 16786525
  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. 16890191
  31. Colding-Jorgensen E, Duno M, Vissing J: Autosomal dominant monosymptomatic myotonia permanens. Neurology. 2006 Jul 11;67(1):153-5. 16832098
  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. 18162704
  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. 17212350
  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. 17998485
  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. 18203179
  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. 18046642
  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. 18690054
  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. 18166706
  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. 17898326
  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. 19015483
  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. 20076800
  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. 19347921
  43. Dupre N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J: Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscul Disord. 2009 May;19(5):330-4. doi: 10.1016/j.nmd.2008.01.007. Epub 2008 Mar 11. 18337100
  44. Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. 19118277
  45. Luan X, Chen B, Liu Y, Zheng R, Zhang W, Yuan Y: Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. Neuropathology. 2009 Oct;29(5):579-84. doi: 10.1111/j.1440-1789.2008.00985.x. Epub 2008 Dec 3. 19077043
  46. Hong D, Luan X, Chen B, Zheng R, Zhang W, Wang Z, Yuan Y: Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):703-4. doi: 10.1136/jnnp.2009.177451. 20522878
  47. Incecik F, Herguner MO, Altunbasak S, Lehman-Horn F: Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. Turk J Pediatr. 2010 Jul-Aug;52(4):409-10. 21043388
  48. Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, Giovannoni R, Botta A, Cardani R, Wicklund MP, Meola G: SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. Neuromuscul Disord. 2015 Apr;25(4):301-7. doi: 10.1016/j.nmd.2015.01.006. Epub 2015 Jan 21. 25660391