Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

Neurology

Volumn 44, Issue 8, 1994, Pages 1500-1503

  Ptacek L J ^a   Tawil, R ^b   Griggs, R C ^b   Meola, G ^c   McManis, P ^d   Barohn, R J ^e   Mendell, J R ^f   Harris, C ^a   Spitzer, R ^g   Santiago, F ^a   Leppert, M F ^a  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c UNIVERSITY OF MILAN   (Italy)

^d MAYO CLINIC   (United States)

^e UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^f OHIO STATE UNIVERSITY   (United States)

^g HUNTINGTON MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; SODIUM CHANNEL;

ARTICLE; CHROMOSOME 17Q; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY STUDY; GENE MUTATION; HUMAN; PATHOPHYSIOLOGY; PERIODIC PARALYSIS; PRIORITY JOURNAL; SKELETAL MUSCLE; THOMSEN DISEASE;

ACETAZOLAMIDE; AUTORADIOGRAPHY; BASE SEQUENCE; FEMALE; HUMAN; HYPERKALEMIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOTONIA CONGENITA; NUCLEIC ACID CONFORMATION; PARALYSES, FAMILIAL PERIODIC; POLYMERASE CHAIN REACTION; SODIUM CHANNELS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027991026     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.44.8.1500     Document Type: Article

References (21)

1. Ptacek LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993; 328:482–489.
2. Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel gene. Science 1990;250:1000–1002.
3. Ptaiek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus. Am J Hum Genet 1991;49:851–854.
4. Koch MC, Ricker K, Otto M, et al. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum Genet 1991;88:71–74.
5. Ebers GC, George AL, Barchi RL, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol 1991;30: 810–816.
6. Ptafiek LJ, George AL, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021–1027.
7. Rojas CV, Wang JZ, Schwartz LS, et al. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hy-perkalaemic periodic paralysis. Nature 1991;354:387–389.
8. McClatchey A, Van den Bergh P, Pericak-Vance M, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992;68:769–774.
9. Ptacek LJ, George AL, Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891–897.
10. McClatchey AI, McKenna-Yasek D, Cros D, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nature Genet 1992;2: 148–152.
11. Feero WG, Wang J, Barany F, et al. Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families. Neurology 1993;43: 668–673.
12. Ptdcek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300–307.
13. Rudolph JA, Spier SJ, Byrns G, Rojas CV, Bernoco D, Hoffman EP. Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nature Genet 1992;2:144–147.
14. Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 1992;42:431–433.
15. Trudell RG, Kaiser KK, Griggs RC. Acetazolamide-respon-sive myotonia congenita. Neurology 1987;37:488–491.
16. Streib EW. Differential diagnosis of myotonic syndromes. Muscle Nerve 1987;10:603–615.
17. Griggs RC. The myotonic disorders and the periodic paralyses. Adv Neurol 1977;17:143–159.
18. Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766–2770.
19. Sanger F, Nicklen S, Coulson A. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977; 74:5463–5467.
20. Cannon SC, Strittmatter SM. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993;10:317–326.
21. Cummins TR, Zhou J, Sigworth FJ, et al. Functional consequences of a sodium channel mutation causing hyperkalemic periodic paralysis. Neuron 1993;10:667–678.