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5. 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; 1998 Feb; 76(1):21-7. PubMed ID: 9508059 [TBL] [Abstract][Full Text] [Related]
6. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Ptacek LJ; Tyler F; Trimmer JS; Agnew WS; Leppert M Am J Hum Genet; 1991 Aug; 49(2):378-82. PubMed ID: 1651050 [TBL] [Abstract][Full Text] [Related]
7. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Rojas CV; Wang JZ; Schwartz LS; Hoffman EP; Powell BR; Brown RH Nature; 1991 Dec; 354(6352):387-9. PubMed ID: 1659668 [TBL] [Abstract][Full Text] [Related]
8. Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A). Hanna MG; Stewart J; Schapira AH; Wood NW; Morgan-Hughes JA; Murray NM J Neurol Neurosurg Psychiatry; 1998 Aug; 65(2):248-50. PubMed ID: 9703181 [TBL] [Abstract][Full Text] [Related]
9. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Ptacek LJ; Trimmer JS; Agnew WS; Roberts JW; Petajan JH; Leppert M Am J Hum Genet; 1991 Oct; 49(4):851-4. PubMed ID: 1654742 [TBL] [Abstract][Full Text] [Related]
10. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. Bendahhou S; Cummins TR; Tawil R; Waxman SG; Ptácek LJ J Neurosci; 1999 Jun; 19(12):4762-71. PubMed ID: 10366610 [TBL] [Abstract][Full Text] [Related]
11. Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene. Rudolph JA; Spier SJ; Byrns G; Hoffman EP Anim Genet; 1992; 23(3):241-50. PubMed ID: 1323940 [TBL] [Abstract][Full Text] [Related]
12. Different gene loci for hyperkalemic and hypokalemic periodic paralysis. Fontaine B; Trofatter J; Rouleau GA; Khurana TS; Haines J; Brown R; Gusella JF Neuromuscul Disord; 1991; 1(4):235-8. PubMed ID: 1822800 [TBL] [Abstract][Full Text] [Related]
13. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. Plassart E; Reboul J; Rime CS; Recan D; Millasseau P; Eymard B; Pelletier J; Thomas C; Chapon F; Desnuelle C Eur J Hum Genet; 1994; 2(2):110-24. PubMed ID: 8044656 [TBL] [Abstract][Full Text] [Related]
14. Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene. Sillén A; Wadelius C; Sundvall M; Ahlsten G; Gustavson KH Genet Couns; 1996; 7(4):267-75. PubMed ID: 8985730 [TBL] [Abstract][Full Text] [Related]
15. Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci. Casley WL; Allon M; Cousin HK; Ting SS; Crackower MA; Hashimoto L; Cornélis F; Beckmann JS; Hudson AJ; Ebers GC Genomics; 1992 Oct; 14(2):493-4. PubMed ID: 1330884 [TBL] [Abstract][Full Text] [Related]
17. Human disease hyperkalemic periodic paralysis is due to mutation in sodium channel alpha-subunit gene. Kumar S Indian J Exp Biol; 1991 May; 29(5):499. PubMed ID: 1655643 [No Abstract] [Full Text] [Related]
20. Ion channel mutations in periodic paralysis and related myotonic diseases. Brown RH Ann N Y Acad Sci; 1993 Dec; 707():305-16. PubMed ID: 9137561 [No Abstract] [Full Text] [Related] [Next] [New Search]