| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | HYKPP, PMC, SCN4A
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| Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.
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| RŸdel R, et al.
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| Arch Neurol 50 : 1241-1248. 1993
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| 8 | 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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| 9 | HYKPP
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| Evidence of genetic heterogeneity among the nondystrophic myotonias.
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| Ptacek LJ, et al.
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| Neurology 42 : 1046-1048. 1992
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| 10 | 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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| 11 | HYKPP
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| Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.
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| Ptacek LJ, et al.
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| Am J Hum Genet 49 : 378-382. 1991
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| 12 | HYKPP
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| Adynamie Žpisodique hŽrŽditaire : maladie de Gamstorp, paramyotonie d'Eulenburg?
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| Pierson M, et al.
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| J Genet Hum 37 : 379-387. 1991
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| 13 | HYKPP
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| Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.
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| Koch MC, et al.
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| J Med Genet 28 : 583-586. 1991
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| 14 | HYKPP
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| Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.
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| Ptacek LJ, et al.
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| Am J Hum Genet 49 : 851-854. 1991
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| 15 | HYKPP
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| A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.
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| Rojas CV, et al.
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| Nature 354 : 387-389. 1991
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| 16 | PMC, HYKPP, SCN4A
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| Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
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| Koch MC, et al.
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| Hum Genet 88 : 71-74. 1991
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| 17 | HYKPP
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| Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
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| Ptacek LJ, et al.
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| Cell 67 : 1021-1027. 1991
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| 18 | HYKPP
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| Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.
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| Ebers GC, et al.
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| Ann Neurol 30 : 810-816. 1991
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| 19 | HYKPP, SCN4A
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| Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
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| Fontaine B, et al.
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| Science 250 : 1000-1002. 1990
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