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

UniProtKB Entry

P35499Swiss-Prot

Organism

Humans

NCBI Taxonomy ID

9606

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

Processes

cardiac muscle cell action potential involved in contraction / regulation of skeletal muscle contraction by action potential

General Function

Pore-forming subunit of a voltage-gated sodium channel complex through which Na(+) ions pass in accordance with their electrochemical gradient. Alternates between resting, activated and inactivated states (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:17898326, PubMed:18690054, PubMed:19347921, PubMed:25707578, PubMed:26700687, PubMed:29992740, PubMed:30190309). Required for normal muscle fiber excitability, normal muscle contraction and relaxation cycles, and constant muscle strength in the presence of fluctuating K(+) levels (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:19347921, PubMed:25707578, PubMed:26659129, PubMed:26700687)

Specific Function

Voltage-gated sodium channel activity

Pfam Domain Function

• Ion_trans (PF00520)
• Na_trans_assoc (PF06512)

Signal Regions

Not Available

Transmembrane Regions

132-150 158-178 193-210 217-233 253-272 424-444 579-597 609-628 643-662 665-682 699-717 779-797 1033-1050 1064-1082 1097-1115 1124-1142 1160-1179 1270-1291 1355-1372 1384-1402 1415-1432 1446-1462 1482-1499 1575-1597

Cellular Location

Cell 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

17q23.3

External Identifiers

Resource	Link
UniProtKB ID	P35499
UniProtKB Entry Name	SCN4A_HUMAN
GenBank Protein ID	338213
GenBank Gene ID	M81758
GeneCard ID	SCN4A
GenAtlas ID	SCN4A
HGNC ID	HGNC:10591
PDB ID(s)	6AGF, 6MBA, 6MC9
KEGG ID	hsa:6329
IUPHAR/Guide To Pharmacology ID	581
NCBI Gene ID	6329

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]
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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]
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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]
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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]
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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]
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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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Associated Data

Bio-Entities

Bio-Entity	Type
Sodium channel protein type 4 subunit alpha (Humans)	protein primary
Sodium channel protein (Humans)	protein
Voltage-gated sodium channel alpha subunit (Humans)	protein

Drug Relations

Drug	Drug group	Pharmacological action?	Type	Actions	Details
Flecainide	approved, withdrawn	yes	target	inhibitor	Details
Zonisamide	approved, investigational	yes	target	inhibitor	Details
Propofol	approved, investigational, vet_approved	unknown	target	inhibitor	Details
Parachlorophenol	approved	unknown	target		Details
Lidocaine	approved, vet_approved	unknown	target		Details
Diclofenac	approved, vet_approved	unknown	transporter	inhibitor	Details
Cocaine	approved, illicit	yes	target	inhibitor	Details
Valproic acid	approved, investigational	unknown	target	inhibitor	Details
Brivaracetam	approved, investigational	yes	target	inhibitor	Details
Fish oil	approved, nutraceutical	unknown	target	inhibitor	Details
Dichlorobenzyl alcohol	approved	yes	target	antagonist	Details
Ranolazine	approved, investigational	unknown	target	inhibitor	Details
Oxcarbazepine	approved	unknown	target	inhibitor	Details
Carbamazepine	approved, investigational	yes	target	inhibitor	Details
Topiramate	approved	yes	target	inhibitor	Details
Lamotrigine	approved, investigational	yes	target	inhibitor	Details
Pentoxyverine	approved, investigational, withdrawn	unknown	target	inhibitor	Details
Bioallethrin	approved, experimental	unknown	target	modulator	Details
Propoxycaine	approved	yes	target	blocker	Details
Amylocaine	approved, withdrawn	yes	target	blocker	Details
Pramocaine	approved	yes	target	blocker	Details
Tetracaine	approved, vet_approved	yes	target	blocker	Details
Promethazine	approved, investigational	unknown	target	inhibitor	Details
Chloroprocaine	approved, investigational	yes	target	inhibitor	Details