Citations for
1HYKPP, PMC, SCN4A
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B.
Neurology 63(11):2120-7. 2004
2HYKPP, MHS2, SCN4A
Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.
Moslehi R, Langlois S, Yam I, Friedman JM.
Am J Med Genet 76(1):21-7. 1998
3HYKPP, PMC, SCN4A
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.
Kelly P, et al.
Neuromuscul Disord 7 : 105-111. 1997
4HYKPP, PMC, SCN4A
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F.
Neurology 49(4):1018-25. 1997
5HYKPP, SCN4A
Hyperkalemic periodic paralysis with cardiac dysrhythmia : a novel sodium channel mutation ?
Baquero JL, et al.
Ann Neurol 37 : 408-411. 1995
6SCN4A, HYKPP
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
Ptacek LJ, et al.
Neurology 44 : 1500-1503. 1994
7HYKPP, PMC, SCN4A
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.
RŸdel R, et al.
Arch Neurol 50 : 1241-1248. 1993
8HYKPP, PML, SCN4A
Molecular genetic and genetic correlations in sodium channelopathies : lack of founder effect and evidence for a second gene.
Wang J, et al.
Am J Hum Genet 52 : 1074-1084. 1993
9HYKPP
Evidence of genetic heterogeneity among the nondystrophic myotonias.
Ptacek LJ, et al.
Neurology 42 : 1046-1048. 1992
10SCN4A, HYKPP, PMC, MCR
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
McClatchey AI, et al.
Nat Genet 2 : 148-152. 1992
11HYKPP
Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.
Ptacek LJ, et al.
Am J Hum Genet 49 : 378-382. 1991
12HYKPP
Adynamie Žpisodique hŽrŽditaire : maladie de Gamstorp, paramyotonie d'Eulenburg?
Pierson M, et al.
J Genet Hum 37 : 379-387. 1991
13HYKPP
Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.
Koch MC, et al.
J Med Genet 28 : 583-586. 1991
14HYKPP
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.
Ptacek LJ, et al.
Am J Hum Genet 49 : 851-854. 1991
15HYKPP
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.
Rojas CV, et al.
Nature 354 : 387-389. 1991
16PMC, HYKPP, SCN4A
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
Koch MC, et al.
Hum Genet 88 : 71-74. 1991
17HYKPP
Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
Ptacek LJ, et al.
Cell 67 : 1021-1027. 1991
18HYKPP
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.
Ebers GC, et al.
Ann Neurol 30 : 810-816. 1991
19HYKPP, SCN4A
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
Fontaine B, et al.
Science 250 : 1000-1002. 1990