| 1 | PMC, SCN4A
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| Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle.
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| Feng Y, Wang H, Luo XG, Ren Y.
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| Neurosci Bull 25(2):61-6.
2009
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| 2 | SCN4A, SCN4B
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| Slow inactivation of the NaV1.4 sodium channel in mammalian cells is impeded by co-expression of the beta1 subunit.
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| Webb J, Wu FF, Cannon SC.
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| Pflugers Arch 457(6):1253-63. Epub 2008 Oct 22.
2009
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| 3 | CLCN1, MCB, MCT, PMC, SCN4A
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| In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
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| Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB.
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| Eur J Hum Genet 16(8):921-9. Epub 2008 Mar 12.
2008
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| 4 | SCN4A, PMC
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| Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
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| 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.
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| Am J Med Genet A 146(3):380-3. 2008
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| 5 | SCN4A
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| A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
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| Petitprez S, Tiab L, Chen L, Kappeler L, Rösler KM, Schorderet D, Abriel H, Burgunder JM.
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| Neurology 71(21):1669-75.
2008
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| 6 | PMC, SCN4A
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| A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
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| Schoser BG, Schröder JM, Grimm T, Sternberg D, Kress W.
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| Muscle Nerve 35(5):599-606.
2007
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| 7 | PMC, SCN4A
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| A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
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| Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B.
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| Neurology 69(20):1937-41.PMID: 17998485 2007
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| 8 | SCN4A, HOKPP2
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| Mutation screening in Chinese hypokalemic periodic paralysis patients.
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| Wang W, Jiang L, Ye L, Zhu N, Su T, Guan L, Li X, Ning G.
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| Mol Genet Metab 87(4):359-63. Epub 2006 Jan 4. 2006
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| 9 | SCN4A, PMC
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| A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
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| Ferriby D, Stojkovic T, Sternberg D, Hurtevent JF, Hurtevent JP, Vermersch P.
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| Neuromuscul Disord 16(5):321-4. Epub 2006 Apr 19. 2006
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| 10 | HYKPP, PMC, SCN4A
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| New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
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| Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B.
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| Neurology 63(11):2120-7. 2004
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| 11 | CMS2C, SCN4A
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| Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
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| Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG.
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| Proc Natl Acad Sci U S A 100(12):7377-82. Epub 2003 May 23.
2003
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| 12 | HOKPP2, SCN4A
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| Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
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| 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.
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| Proc Natl Acad Sci U S A 97(17):9549-54. 2000
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| 13 | SCN4A
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| The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.
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| Struyk AF, Scoggan KA, Bulman DE, Cannon SC.
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| J Neurosci 20(23):8610-7. 2000
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| 14 | SCN4A
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| Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
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| Wang DW, et al.
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| FEBS Lett 448(2-3):231-4. 1999
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| 15 | PMC, SCN4A
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| A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
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| Sasaki R, et al.
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| Arch Neurol 56(6):692-6. 1999
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| 16 | HYKPP, MHS2, SCN4A
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| Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.
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| Moslehi R, Langlois S, Yam I, Friedman JM.
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| Am J Med Genet 76(1):21-7. 1998
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| 17 | CD79B, GH1, LCR-GH@, SCN4A
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| Physical linkage of the human growth hormone gene cluster and the CD79b (Igbeta/B29) gene.
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| Bennani-Baiti IM, et al.
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| Genomics 48 : 258-264. 1998
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| 18 | HYKPP, PMC, SCN4A
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| Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit-a large kindred with a novel phenotype.
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| Kelly P, et al.
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| Neuromuscul Disord 7 : 105-111. 1997
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| 19 | PMC, SCN4A
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| C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data.
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| Borg K, Ahlberg G, Anvret M.
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| Neuromuscul Disord 7(4):231-3. 1997
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| 20 | HOKPP2, SCN4A
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| A novel sodium channel mutation causing hypokalemic periodic paralysis. (abstr)
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| Bulman DE, et al.
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| Am J Hum Genet 61 : A327. 1997
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| 21 | HYKPP, PMC, SCN4A
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| A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
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| Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F.
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| Neurology 49(4):1018-25. 1997
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| 22 | SCN4A
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| A novel muscle sodium channel mutation causes painful congenital myotonia.
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| Rosenfeld J, Sloan-Brown K, George AL Jr.
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| Ann Neurol 42(5):811-4. 1997
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| 23 | PMC, SCN4A
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| Paramyotonia congenita : the R1448P Na+ channel mutation in adult human skeletal muscle.
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| Lerche H, et al.
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| Ann Neurol 39 : 599-608. 1996
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| 24 | GH@, LCR-GH@, SCN4A
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| Physical linkage of the human growth hormone gene cluster and the skeletal muscle sodium channel alpha-subunit gene (SCN4A) on chromosome 17.
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| Bennani-Baiti IM, Jones BK, Liebhaber SA, Cooke NE.
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| Genomics 29(3):647-52. 1995
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| 25 | PMC, SCN4A
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| A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita.
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| Yamada T, et al.
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| J Neurol Sci 133 : 192-193. 1995
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| 26 | HYKPP, SCN4A
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| Hyperkalemic periodic paralysis with cardiac dysrhythmia : a novel sodium channel mutation ?
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| Baquero JL, et al.
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| Ann Neurol 37 : 408-411. 1995
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| 27 | HOKPP1, CACNA1S, SCN4A, COL18A1, MCR, MCT
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| The skeletal muscle sodium and chloride channel diseases.
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| Hudson AJ, et al.
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| Brain 118 : 547-563. 1995
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| 28 | MHS2, SCN4A
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| Malignant hyperthermia-like reaction in a family with a sodium channel mutation at residue 1306. (abstr)
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| Vita GM, et al.
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| Am J Hum Genet 55 : A247. 1994
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| 29 | PMC, SCN4A
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| Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
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| Tahmoush AJ, et al.
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| Neuromuscul Disord 4 : 447-454. 1994
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| 30 | SCN4A, HYKPP
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| Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
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| Ptacek LJ, et al.
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| Neurology 44 : 1500-1503. 1994
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| 31 | SCN4A
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| Genomic organization of the human skeletal muscle sodium channel gene.
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| George AL, et al.
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| Genomics 15 : 598-606. 1993
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| 32 | HYKPP, PMC, SCN4A
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| Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.
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| Rdel R, et al.
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| Arch Neurol 50 : 1241-1248. 1993
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| 33 | HYKPP, PML, SCN4A
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| Molecular genetic and genetic correlations in sodium channelopathies : lack of founder effect and evidence for a second gene.
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| Wang J, et al.
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| Am J Hum Genet 52 : 1074-1084. 1993
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| 34 | SCN4A, PMC
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| A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
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| Heine R, et al.
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| Hum Mol Genet 2 : 1349-1353. 1993
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| 35 | SCN4A
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| Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.
|
| Wang J, et al.
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| Biochem Biophys Res Commun 182 : 794-801. 1992
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| 36 | SCN4A
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| Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
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| McClatchey AI, et al.
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| Am J Hum Genet 50 : 896-901. 1992
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| 37 | SCN4A, HYKPP, PMC, MCR
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| Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
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| McClatchey AI, et al.
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| Nat Genet 2 : 148-152. 1992
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| 38 | PMC, HYKPP, SCN4A
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| Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
|
| Koch MC, et al.
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| Hum Genet 88 : 71-74. 1991
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| 39 | SCN4A
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| Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.
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| George AL, et al.
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| Genomics 9 : 555-556. 1991
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| 40 | SCN4A
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| RFLP for BgIII at the human skeletal muscle sodium channel locus.
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| Ebers GC, et al.
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| Nucleic Acids Res 19 : 1166. 1991
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| 41 | HYKPP, SCN4A
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| Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
|
| Fontaine B, et al.
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| Science 250 : 1000-1002. 1990
|