You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP09084
Secondary Accession Numbers
  • 14828
Name Sodium channel protein type 4 subunit alpha
Synonyms
  1. SkM1
  2. Sodium channel protein skeletal muscle subunit alpha
  3. Sodium channel protein type IV subunit alpha
  4. Voltage-gated sodium channel subunit alpha Nav1.4
Gene Name SCN4A
Protein Type Unknown
Biological Properties
General Function Involved in ion 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
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
ion channel complex
cation channel complex
macromolecular complex
protein complex
sodium channel complex
voltage-gated sodium channel complex
Function
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
sodium channel activity
transporter activity
ion channel activity
voltage-gated sodium channel activity
cation channel activity
Process
sodium ion transport
establishment of localization
transport
transmembrane transport
monovalent inorganic cation transport
ion transport
cation transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 17q23.3
SNPs SCN4A
Gene Sequence
>5511 bp
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
Protein Properties
Number of Residues 1836
Molecular Weight 208059.2
Theoretical pI 4.73
Pfam Domain Function
Signals
  • None
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
Protein Sequence
>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
GenBank ID Protein 93587342
UniProtKB/Swiss-Prot ID P35499
UniProtKB/Swiss-Prot Entry Name SCN4A_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_000334.4
GeneCard ID SCN4A
GenAtlas ID SCN4A
HGNC ID HGNC:10591
References
General References
  1. 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. [PubMed:16625196 ]
  2. 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. [PubMed:18162704 ]
  3. 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. [PubMed:19118277 ]
  4. 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. [PubMed:1315496 ]
  5. 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. [PubMed:1310396 ]
  6. 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. [PubMed:12766226 ]
  7. 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. [PubMed:1339144 ]
  8. 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. [PubMed:1310898 ]
  9. 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. [PubMed:1659948 ]
  10. 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. [PubMed:1659668 ]
  11. 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. [PubMed:1338909 ]
  12. 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. [PubMed:1316765 ]
  13. 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. [PubMed:8388676 ]
  14. 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. [PubMed:8308722 ]
  15. 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. [PubMed:8242056 ]
  16. 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. [PubMed:8058156 ]
  17. 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. [PubMed:7695243 ]
  18. 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. [PubMed:8580427 ]
  19. 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. [PubMed:9392583 ]
  20. 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. [PubMed:10369308 ]
  21. 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. [PubMed:10218481 ]
  22. 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. [PubMed:10599760 ]
  23. 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. [PubMed:10727489 ]
  24. 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. [PubMed:10851391 ]
  25. 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. [PubMed:10944223 ]
  26. 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. [PubMed:11558801 ]
  27. 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. [PubMed:11591859 ]
  28. 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. [PubMed:15596759 ]
  29. 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. [PubMed:15790667 ]
  30. 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. [PubMed:16786525 ]
  31. Colding-Jorgensen E, Duno M, Vissing J: Autosomal dominant monosymptomatic myotonia permanens. Neurology. 2006 Jul 11;67(1):153-5. [PubMed:16832098 ]
  32. 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. [PubMed:17212350 ]
  33. 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. [PubMed:17998485 ]
  34. 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. [PubMed:18203179 ]
  35. 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. [PubMed:18046642 ]
  36. 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. [PubMed:18690054 ]
  37. 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. [PubMed:18166706 ]
  38. 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. [PubMed:19015483 ]
  39. 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. [PubMed:18337100 ]
  40. 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. [PubMed:19077043 ]