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.J.Neurol.Neurosurg.Psychiatry 74(9), 1339 1341.Bulman, D.E., Scoggan, K.A., van Oene, M.D., Nicolle, M.W., Hahn, A.F., Tollar, L.L., andEbers, G.C.(1999).A novel sodium channel mutation in a family with hypokalemic periodicparalysis.Neurology 53(9), 1932 1936.Buruma, O.J., and Bots, G.T.(1978).Myopathy in familial hypokalaemic periodic paralysisindependent of paralytic attacks.Acta Neurol.Scand.57(2), 171 179.Buruma, O.J.S., and Schipperheyn, J.J.(1979).Periodic paralysis.In Handbook of ClinicalNeurology (P.J.Vinken and G.W.Bruyn, eds.), pp.147 174.North-Holland PublishingCompany, Amsterdam.Caciotti, A., Morrone, A., Domenici, R., Donati, M.A., and Zammarchi, E.(2003).Severe prognosisin a large family with hypokalemic periodic paralysis.Muscle Nerve 27(2), 165 169.Cannon, S.C.(2006).Pathomechanisms in channelopathies of skeletal muscle and brain.Annu.Rev.Neurosci.29, 387 415.Cannon, S.C., and Strittmatter, S.M.(1993).Functional expression of sodium channel mutationsidentified in families with periodic paralysis.Neuron 10(2), 317 326.Cannon, S.C., Brown, R.H., Jr, and Corey, D.P.(1993).Theoretical reconstruction of myotoniaand paralysis caused by incomplete inactivation of sodium channels.Biophys.J.65(1), 270 288.Carle, T., Lhuillier, L., Luce, S., Sternberg, D., Devuyst, O., Fontaine, B., and Tabti, N.(2006).Gating defects of a novel Na(þ) channel mutant causing hypokalemic periodic paralysis.Biochem.Biophys.Res.Commun.348(2), 653 661.Chinnery, P.F., Walls, T.J., Hanna, M.G., Bates, D., and Fawcett, P.R.(2002).Normokalemicperiodic paralysis revisited: Does it exist? Ann.Neurol.52(2), 251 252.Cummins, T.R., and Sigworth, F.J.(1996).Impaired slow inactivation in mutant sodium channels.Biophys.J.71(1), 227 236.Dalakas, M.C., and Engel, W.K.(1983).Treatment of permanent muscle weakness in familialHypokalemic Periodic Paralysis.Muscle Nerve 6(3), 182 186.Davies, N.P., Sutton, I., Winer, J.B., Moorcroft, P., Pall, H.S., Cole, T., Davies, M.B.,Valente, E.M., Brancati, F., Hammans, S.R., and Hanna, M.G.(2002).The sodium channelsyndromes: Expanding the phenotype associated with SCN4A mutations.J.Neurol.Neurosurg.Psychiatry 73, 229.Dias Da Silva, M.R., Cerutti, J.M., Arnaldi, L.A., and Maciel, R.M.(2002).A mutation in theKCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemicperiodic paralysis.J.Clin.Endocrinol.Metab.87(11), 4881 4884.Elbaz, A., Vale-Santos, J., Jurkat-Rott, K., Lapie, P., Ophoff, R.A., Bady, B., Links, T.P., Piussan, C.,Vila, A., Monnier, N., et al.(1995).Hypokalemic periodic paralysis and the dihydropyridine receptor(CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence forthe absence of a founder effect in 16 Caucasian families.Am.J.Hum.Genet.56(2), 374 380.Engel, A.G.(1966).Electron microscopic observations in primary hypokalemic and thyrotoxicperiodic paralyses.Mayo Clin.Proc.41(11), 797 808.Engel, A.G.(1970).Evolution and content of vacuoles in primary hypokalemic periodic paralysis.Mayo Clin.Proc.45(11), 774 814. 20 Bertrand FontaineEngel, A.G., and Lambert, E.H.(1969).Calcium activation of electrically inexcitable muscle fibersin primary hypokalemic periodic paralysis.Neurology 19(9), 851 858.Feero, W.G., Wang, J., Barany, F., Zhou, J., Todorovic, S.M., Conwit, R., Galloway, G., Hausmanowa-Petrusewicz, I., Fidzianska, A., Arahata, K., et al.(1993).Hyperkalemic periodic paralysis: Rapidmolecular diagnosis and relationship of genotype to phenotype in 12 families.Neurology 43(4),668 673.Fontaine, B., Khurana, T.S., Hoffman, E.P., Bruns, G.A., Haines, J.L., Trofatter, J.A.,Hanson, M.P., Rich, J., McFarlane, H., Yasek, D.M., et al.(1990).Hyperkalemic periodicparalysis and the adult muscle sodium channel alpha-subunit gene.Science 250(4983),1000 1002.Fontaine, B., Vale-Santos, J., Jurkat-Rott, K., Reboul, J., Plassart, E., Rime, C.S., Elbaz, A.,Heine, R., Guimaraes, J., Weissenbach, J., et al.(1994).Mapping of the hypokalaemic periodicparalysis (HypoPP) locus to chromosome 1q31 32 in three European families.Nat.Genet.6(3),267 272.Fontaine, B., Fournier, E., Sternberg, D., Vicart, S., and Tabti, N.(2007).Hypokalemic periodicparalysis: A model for a clinical and research approach to a rare disorder.Neurotherapeutics 4(2),225 232.Fouad, G., Dalakas, M., Servidei, S., Mendell, J.R., Van den Bergh, P [ Pobierz caÅ‚ość w formacie PDF ]
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.J.Neurol.Neurosurg.Psychiatry 74(9), 1339 1341.Bulman, D.E., Scoggan, K.A., van Oene, M.D., Nicolle, M.W., Hahn, A.F., Tollar, L.L., andEbers, G.C.(1999).A novel sodium channel mutation in a family with hypokalemic periodicparalysis.Neurology 53(9), 1932 1936.Buruma, O.J., and Bots, G.T.(1978).Myopathy in familial hypokalaemic periodic paralysisindependent of paralytic attacks.Acta Neurol.Scand.57(2), 171 179.Buruma, O.J.S., and Schipperheyn, J.J.(1979).Periodic paralysis.In Handbook of ClinicalNeurology (P.J.Vinken and G.W.Bruyn, eds.), pp.147 174.North-Holland PublishingCompany, Amsterdam.Caciotti, A., Morrone, A., Domenici, R., Donati, M.A., and Zammarchi, E.(2003).Severe prognosisin a large family with hypokalemic periodic paralysis.Muscle Nerve 27(2), 165 169.Cannon, S.C.(2006).Pathomechanisms in channelopathies of skeletal muscle and brain.Annu.Rev.Neurosci.29, 387 415.Cannon, S.C., and Strittmatter, S.M.(1993).Functional expression of sodium channel mutationsidentified in families with periodic paralysis.Neuron 10(2), 317 326.Cannon, S.C., Brown, R.H., Jr, and Corey, D.P.(1993).Theoretical reconstruction of myotoniaand paralysis caused by incomplete inactivation of sodium channels.Biophys.J.65(1), 270 288.Carle, T., Lhuillier, L., Luce, S., Sternberg, D., Devuyst, O., Fontaine, B., and Tabti, N.(2006).Gating defects of a novel Na(þ) channel mutant causing hypokalemic periodic paralysis.Biochem.Biophys.Res.Commun.348(2), 653 661.Chinnery, P.F., Walls, T.J., Hanna, M.G., Bates, D., and Fawcett, P.R.(2002).Normokalemicperiodic paralysis revisited: Does it exist? Ann.Neurol.52(2), 251 252.Cummins, T.R., and Sigworth, F.J.(1996).Impaired slow inactivation in mutant sodium channels.Biophys.J.71(1), 227 236.Dalakas, M.C., and Engel, W.K.(1983).Treatment of permanent muscle weakness in familialHypokalemic Periodic Paralysis.Muscle Nerve 6(3), 182 186.Davies, N.P., Sutton, I., Winer, J.B., Moorcroft, P., Pall, H.S., Cole, T., Davies, M.B.,Valente, E.M., Brancati, F., Hammans, S.R., and Hanna, M.G.(2002).The sodium channelsyndromes: Expanding the phenotype associated with SCN4A mutations.J.Neurol.Neurosurg.Psychiatry 73, 229.Dias Da Silva, M.R., Cerutti, J.M., Arnaldi, L.A., and Maciel, R.M.(2002).A mutation in theKCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemicperiodic paralysis.J.Clin.Endocrinol.Metab.87(11), 4881 4884.Elbaz, A., Vale-Santos, J., Jurkat-Rott, K., Lapie, P., Ophoff, R.A., Bady, B., Links, T.P., Piussan, C.,Vila, A., Monnier, N., et al.(1995).Hypokalemic periodic paralysis and the dihydropyridine receptor(CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence forthe absence of a founder effect in 16 Caucasian families.Am.J.Hum.Genet.56(2), 374 380.Engel, A.G.(1966).Electron microscopic observations in primary hypokalemic and thyrotoxicperiodic paralyses.Mayo Clin.Proc.41(11), 797 808.Engel, A.G.(1970).Evolution and content of vacuoles in primary hypokalemic periodic paralysis.Mayo Clin.Proc.45(11), 774 814. 20 Bertrand FontaineEngel, A.G., and Lambert, E.H.(1969).Calcium activation of electrically inexcitable muscle fibersin primary hypokalemic periodic paralysis.Neurology 19(9), 851 858.Feero, W.G., Wang, J., Barany, F., Zhou, J., Todorovic, S.M., Conwit, R., Galloway, G., Hausmanowa-Petrusewicz, I., Fidzianska, A., Arahata, K., et al.(1993).Hyperkalemic periodic paralysis: Rapidmolecular diagnosis and relationship of genotype to phenotype in 12 families.Neurology 43(4),668 673.Fontaine, B., Khurana, T.S., Hoffman, E.P., Bruns, G.A., Haines, J.L., Trofatter, J.A.,Hanson, M.P., Rich, J., McFarlane, H., Yasek, D.M., et al.(1990).Hyperkalemic periodicparalysis and the adult muscle sodium channel alpha-subunit gene.Science 250(4983),1000 1002.Fontaine, B., Vale-Santos, J., Jurkat-Rott, K., Reboul, J., Plassart, E., Rime, C.S., Elbaz, A.,Heine, R., Guimaraes, J., Weissenbach, J., et al.(1994).Mapping of the hypokalaemic periodicparalysis (HypoPP) locus to chromosome 1q31 32 in three European families.Nat.Genet.6(3),267 272.Fontaine, B., Fournier, E., Sternberg, D., Vicart, S., and Tabti, N.(2007).Hypokalemic periodicparalysis: A model for a clinical and research approach to a rare disorder.Neurotherapeutics 4(2),225 232.Fouad, G., Dalakas, M., Servidei, S., Mendell, J.R., Van den Bergh, P [ Pobierz caÅ‚ość w formacie PDF ]