Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, the Netherlands, 8-10 December 1995

Neuromuscular Disorders

Volumn 7, Issue 2, 1997, Pages 127-132

  Rüdel, Reinhardt ^a   Lehmann Horn, Frank ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM ION; SODIUM CHANNEL; SODIUM ION;

CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; MYOTONIA; NETHERLANDS; PERIODIC PARALYSIS; PRIORITY JOURNAL; THOMSEN DISEASE; WORKSHOP;

CALCIUM CHANNELS; EDUCATION; HUMANS; MYOTONIA; NETHERLANDS; PARALYSIS; POTASSIUM; SODIUM CHANNELS;

EID: 0342618296     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00418-X     Document Type: Conference Paper

References (34)

1. Beam KG, Brett AA, Nudome T, Numa S, Tanabe T. Function of a truncated dihydropyridine receptor as both voltage sensor and calcium channel. Nature 1992;360:169-71.
2. Becker JD, Honerkamp J, Hirsch J, Schlatter E, Greger R. Analyzing ion channels with hidden Markov models. Pflügers Arch 1994;426:328-32.
3. Biemond A, Polak Daniels A. Familial periodic paralysis and its transition into spinal muscular atrophy. Brain 1934;57:91-108.
4. Blaxter A, Lieveslay P, Gruffydd-Jones T, Wotton P. Periodic muscle weakness in Burmese kittens. Veterinary Record 1986:619-20.
5. Cannon SC. Sodium channel defects in myotonia and periodic paralysis. Annu Rev Neurol 1996;19:141-64.
6. Cannon SC, Lawrence JH, Beech J, Brown RH. Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis. J Neurophysiol 1995;73:1892.
7. Cannon SC, Strittmatter SM. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993:10:317-26.
8. Cooper DN, Krawczak M. The mutational spectrum of single base-pair mutations causing human genetic disease; patterns and predictions. Hum Genetics 1990;85:55-74.
9. Duncan BK, Miller JH. Mutagenic deamination of cytosine residues in DNA. Nature 1980;287:560-61.
10. Flucher BE, Andrews SB, Daniels MP. Molecular organization of transverse tubule sarcoplasmic reticulum junctions during development of excitation-contraction coupling in skeletal muscle. Mol Biol of the Cell 1994;5:1105-18.
11. Fontaine B, Vale-Santos JM, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, Baumann N, Fardeau M, Lehmann-Horn F. Mapping of hypokalemic periodic paralysis (HypoPP) to chromosome 1q31 q32 by a genome-wide search in three European families. Nature Genet 1994;6:267-72.
12. Heine R. Korrelationen von Genotyp und Phänotyp bei Natrium- und Chloridkanalkrankheiten. PhD thesis, University of Ulm, 1995.
13. 2+ channel diversity. Ann Rev Neurosci 1994;17:399-418.
14. Hogan K, Powers PA, Gregg RO. Cloning of the human skeletal muscle α1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 1994;24:608-09.
15. Horn R, Lange K. Estimating kinetic constants from single channel data. Biophys J 1983;43:207-23.
16. Ji S, George AL, Horn R, Barchi RL. Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating. J Gen Physiol 1996;107:183-94.
17. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RO, Hogan K, Powers P, Lapie P, Vale-Santos JE, Weissenbach J, Fontaine B. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3:1415-19.
18. Lehmann-Horn F, Rüdel R. Molecular pathophysiology of voltage-gated ion channels. Rev Physiol Biochem Pharmacol 1996:128:195-268.
19. Lehmann-Horn F, Rüdel R, Ricker K. Workshop report: Nondystrophic myotonias and periodic paralyses. Neuromusc Disord 1993:3:161-68.
20. Lehmann-Horn F, Sipos I, Jurkat-Rott K, Heine R, Brinkmeier H, Fontaine B, Kovacs L, Melzer W. Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels. In: Dawson CD, Frizzell RA, editors. Ion channel and genetic diseases. New York: Rockefeller University Press, 1995:101-13.
21. Lerche H, Heine R, Pika U, George AL, Mitrovic N, Browatzki M, Weiß T, Rivet-Bastide M, Franke C, LoMonaco M, Ricker K, Lehmann-Horn F. Human sodium channel myotonia: Slowed channel inactivation due to mutations for glycine within the III/IV linker. J Physiol 1993;470:13-22.
22. Lerche H, Klugbauer N, Lehmann-Horn F, Hofmann F, Melzer W. Expression and functional characterisation of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralyses. Pflügers Arch 1996;431:461-63.
23. + channel mutation in adult human skeletal muscle. Ann Neurol 1996;39:599-608.
24. Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJGH. Familial hypokalemic periodic paralysis: clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
25. Melzer W, Herrmann-Frank A, Lüttgau HCh. The role of Ca ions in excitation-contraction coupling of skeletal muscle fibres. Biochim Biophys Acta 1995:1241:59-116.
26. Meyer-Kleine Ch, Otto M, Zoll B, Koch MC. Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. Hum Genet 1994:93:707-710.
27. Mitrovic N, George AL Jr, Heine R, Lehmann-Horn F. Potassium-aggravated myotonia: biophysical and clinical implications of the G1306A/V E human muscle sodium channel mutations. J Physiol 1995:487:107-114.
28. Nicole S, Ben Hamida Ch, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, Fardeau M, Ben Hamida M, Fontaine B, Hentati F. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34 p36.1 by homozygosity mapping. Hum Mol Genet 1995;4:1633-36.
29. Ptáček L, Tawil R, Griggs RC, Engel A, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77:863-68.
30. Ptáček U, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, Leppert MF. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 1994;44:1500-503.
31. Ricker K, Moxley RT, Heine R, Lehmann-Horn F. Myotonia fluctuans, a third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-102.
32. Rivet M, Cognard C, Imbert N, Rideau Y, Duport O, Raymond O. A third type of calcium current in cultured human skeletal muscle cells. Neurosci Lett 1992;138:97-102.
33. Sipos I, Jurkat-Rott K, Harasztosi Cs, Fontaine B, Kovacs L, Melzer W, Lehmann-Horn F. Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes. J Physiol 1995;483:299-306.
34. Wang J, Zhou J, Todorovic SM, Feero WG, Barany F, Conwit R, Hausmanowa-Petrusewicz I, Fidzianska A, Arahata K, Wessel HB, Hartladge P, Ricker K, Lehmann-Horn F, Hayakawa H, Hoffman EP. Molecular genetic and genetic correlations in sodium channelopathies: Lack of founder effect and evidence for a second gene. Am J Hum Genet 1993;52:1074-84.