-
1
-
-
0035951404
-
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis
-
Abbott G.W., Butler M.H., Bendahhou S., Dalakas M.C., Ptacek L.J., and Goldstein S.A. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 104 2 (2001) 217-231
-
(2001)
Cell
, vol.104
, Issue.2
, pp. 217-231
-
-
Abbott, G.W.1
Butler, M.H.2
Bendahhou, S.3
Dalakas, M.C.4
Ptacek, L.J.5
Goldstein, S.A.6
-
2
-
-
21344466555
-
In vivo and in vitro functional characterization of Andersen's syndrome mutations
-
Bendahhou S., Fournier E., Sternberg D., Bassez G., Furby A., Sereni C., Donaldson M.R., Larroque M.M., Fontaine B., and Barhanin J. In vivo and in vitro functional characterization of Andersen's syndrome mutations. J. Physiol. 565 Pt. 3 (2005) 731-741
-
(2005)
J. Physiol.
, vol.565
, Issue.PART 3
, pp. 731-741
-
-
Bendahhou, S.1
Fournier, E.2
Sternberg, D.3
Bassez, G.4
Furby, A.5
Sereni, C.6
Donaldson, M.R.7
Larroque, M.M.8
Fontaine, B.9
Barhanin, J.10
-
3
-
-
0025062007
-
Progressive myopathy in hyperkalemic periodic paralysis
-
Bradley W.G., Taylor R., Rice D.R., Hausmanowa-Petruzewicz I., Adelman L.S., Jenkison M., Jedrzejowska H., Drac H., and Pendlebury W.W. Progressive myopathy in hyperkalemic periodic paralysis. Arch. Neurol. 47 9 (1990) 1013-1017
-
(1990)
Arch. Neurol.
, vol.47
, Issue.9
, pp. 1013-1017
-
-
Bradley, W.G.1
Taylor, R.2
Rice, D.R.3
Hausmanowa-Petruzewicz, I.4
Adelman, L.S.5
Jenkison, M.6
Jedrzejowska, H.7
Drac, H.8
Pendlebury, W.W.9
-
4
-
-
0141740617
-
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A
-
Brancati F., Valente E.M., Davies N.P., Sarkozy A., Sweeney M.G., LoMonaco M., Pizzuti A., Hanna M.G., and Dallapiccola B. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A. J. Neurol. Neurosurg. Psychiatry 74 9 (2003) 1339-1341
-
(2003)
J. Neurol. Neurosurg. Psychiatry
, vol.74
, Issue.9
, pp. 1339-1341
-
-
Brancati, F.1
Valente, E.M.2
Davies, N.P.3
Sarkozy, A.4
Sweeney, M.G.5
LoMonaco, M.6
Pizzuti, A.7
Hanna, M.G.8
Dallapiccola, B.9
-
5
-
-
0032801833
-
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
-
Bulman D.E., Scoggan K.A., van Oene M.D., Nicolle M.W., Hahn A.F., Tollar L.L., and Ebers G.C. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 53 9 (1999) 1932-1936
-
(1999)
Neurology
, vol.53
, Issue.9
, pp. 1932-1936
-
-
Bulman, D.E.1
Scoggan, K.A.2
van Oene, M.D.3
Nicolle, M.W.4
Hahn, A.F.5
Tollar, L.L.6
Ebers, G.C.7
-
6
-
-
0018137304
-
Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks
-
Buruma O.J., and Bots G.T. Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks. Acta Neurol. Scand. 57 2 (1978) 171-179
-
(1978)
Acta Neurol. Scand.
, vol.57
, Issue.2
, pp. 171-179
-
-
Buruma, O.J.1
Bots, G.T.2
-
7
-
-
0002105117
-
Periodic paralysis
-
Vinken P.J., and Bruyn G.W. (Eds), North-Holland Publishing Company, Amsterdam
-
Buruma O.J.S., and Schipperheyn J.J. Periodic paralysis. In: Vinken P.J., and Bruyn G.W. (Eds). Handbook of Clinical Neurology (1979), North-Holland Publishing Company, Amsterdam 147-174
-
(1979)
Handbook of Clinical Neurology
, pp. 147-174
-
-
Buruma, O.J.S.1
Schipperheyn, J.J.2
-
8
-
-
0037309797
-
Severe prognosis in a large family with hypokalemic periodic paralysis
-
Caciotti A., Morrone A., Domenici R., Donati M.A., and Zammarchi E. Severe prognosis in a large family with hypokalemic periodic paralysis. Muscle Nerve 27 2 (2003) 165-169
-
(2003)
Muscle Nerve
, vol.27
, Issue.2
, pp. 165-169
-
-
Caciotti, A.1
Morrone, A.2
Domenici, R.3
Donati, M.A.4
Zammarchi, E.5
-
9
-
-
33748372269
-
Pathomechanisms in channelopathies of skeletal muscle and brain
-
Cannon S.C. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu. Rev. Neurosci. 29 (2006) 387-415
-
(2006)
Annu. Rev. Neurosci.
, vol.29
, pp. 387-415
-
-
Cannon, S.C.1
-
10
-
-
0027409755
-
Functional expression of sodium channel mutations identified in families with periodic paralysis
-
Cannon S.C., and Strittmatter S.M. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 10 2 (1993) 317-326
-
(1993)
Neuron
, vol.10
, Issue.2
, pp. 317-326
-
-
Cannon, S.C.1
Strittmatter, S.M.2
-
11
-
-
0027236264
-
Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels
-
Cannon S.C., Brown Jr. R.H., and Corey D.P. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys. J. 65 1 (1993) 270-288
-
(1993)
Biophys. J.
, vol.65
, Issue.1
, pp. 270-288
-
-
Cannon, S.C.1
Brown Jr., R.H.2
Corey, D.P.3
-
12
-
-
33746867474
-
Gating defects of a novel Na(+) channel mutant causing hypokalemic periodic paralysis
-
Carle T., Lhuillier L., Luce S., Sternberg D., Devuyst O., Fontaine B., and Tabti N. Gating defects of a novel Na(+) channel mutant causing hypokalemic periodic paralysis. Biochem. Biophys. Res. Commun. 348 2 (2006) 653-661
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.348
, Issue.2
, pp. 653-661
-
-
Carle, T.1
Lhuillier, L.2
Luce, S.3
Sternberg, D.4
Devuyst, O.5
Fontaine, B.6
Tabti, N.7
-
13
-
-
0036327041
-
Normokalemic periodic paralysis revisited: Does it exist?
-
Chinnery P.F., Walls T.J., Hanna M.G., Bates D., and Fawcett P.R. Normokalemic periodic paralysis revisited: Does it exist?. Ann. Neurol. 52 2 (2002) 251-252
-
(2002)
Ann. Neurol.
, vol.52
, Issue.2
, pp. 251-252
-
-
Chinnery, P.F.1
Walls, T.J.2
Hanna, M.G.3
Bates, D.4
Fawcett, P.R.5
-
14
-
-
0029976727
-
Impaired slow inactivation in mutant sodium channels
-
Cummins T.R., and Sigworth F.J. Impaired slow inactivation in mutant sodium channels. Biophys. J. 71 1 (1996) 227-236
-
(1996)
Biophys. J.
, vol.71
, Issue.1
, pp. 227-236
-
-
Cummins, T.R.1
Sigworth, F.J.2
-
15
-
-
0020582252
-
Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis
-
Dalakas M.C., and Engel W.K. Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis. Muscle Nerve 6 3 (1983) 182-186
-
(1983)
Muscle Nerve
, vol.6
, Issue.3
, pp. 182-186
-
-
Dalakas, M.C.1
Engel, W.K.2
-
16
-
-
10444284633
-
The sodium channel syndromes: Expanding the phenotype associated with SCN4A mutations
-
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. The sodium channel syndromes: Expanding the phenotype associated with SCN4A mutations. J. Neurol. Neurosurg. Psychiatry 73 (2002) 229
-
(2002)
J. Neurol. Neurosurg. Psychiatry
, vol.73
, pp. 229
-
-
Davies, N.P.1
Sutton, I.2
Winer, J.B.3
Moorcroft, P.4
Pall, H.S.5
Cole, T.6
Davies, M.B.7
Valente, E.M.8
Brancati, F.9
Hammans, S.R.10
Hanna, M.G.11
-
17
-
-
0036845343
-
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis
-
Dias Da Silva M.R., Cerutti J.M., Arnaldi L.A., and Maciel R.M. A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. J. Clin. Endocrinol. Metab. 87 11 (2002) 4881-4884
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, Issue.11
, pp. 4881-4884
-
-
Dias Da Silva, M.R.1
Cerutti, J.M.2
Arnaldi, L.A.3
Maciel, R.M.4
-
18
-
-
0028854326
-
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
-
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. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am. J. Hum. Genet. 56 2 (1995) 374-380
-
(1995)
Am. J. Hum. Genet.
, vol.56
, Issue.2
, pp. 374-380
-
-
Elbaz, A.1
Vale-Santos, J.2
Jurkat-Rott, K.3
Lapie, P.4
Ophoff, R.A.5
Bady, B.6
Links, T.P.7
Piussan, C.8
Vila, A.9
Monnier, N.10
-
19
-
-
0013967712
-
Electron microscopic observations in primary hypokalemic and thyrotoxic periodic paralyses
-
Engel A.G. Electron microscopic observations in primary hypokalemic and thyrotoxic periodic paralyses. Mayo Clin. Proc. 41 11 (1966) 797-808
-
(1966)
Mayo Clin. Proc.
, vol.41
, Issue.11
, pp. 797-808
-
-
Engel, A.G.1
-
20
-
-
0014875562
-
Evolution and content of vacuoles in primary hypokalemic periodic paralysis
-
Engel A.G. Evolution and content of vacuoles in primary hypokalemic periodic paralysis. Mayo Clin. Proc. 45 11 (1970) 774-814
-
(1970)
Mayo Clin. Proc.
, vol.45
, Issue.11
, pp. 774-814
-
-
Engel, A.G.1
-
21
-
-
0014578940
-
Calcium activation of electrically inexcitable muscle fibers in primary hypokalemic periodic paralysis
-
Engel A.G., and Lambert E.H. Calcium activation of electrically inexcitable muscle fibers in primary hypokalemic periodic paralysis. Neurology 19 9 (1969) 851-858
-
(1969)
Neurology
, vol.19
, Issue.9
, pp. 851-858
-
-
Engel, A.G.1
Lambert, E.H.2
-
22
-
-
0027460755
-
Hyperkalemic periodic paralysis: Rapid molecular diagnosis and relationship of genotype to phenotype in 12 families
-
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. Hyperkalemic periodic paralysis: Rapid molecular diagnosis and relationship of genotype to phenotype in 12 families. Neurology 43 4 (1993) 668-673
-
(1993)
Neurology
, vol.43
, Issue.4
, pp. 668-673
-
-
Feero, W.G.1
Wang, J.2
Barany, F.3
Zhou, J.4
Todorovic, S.M.5
Conwit, R.6
Galloway, G.7
Hausmanowa-Petrusewicz, I.8
Fidzianska, A.9
Arahata, K.10
-
23
-
-
0025649547
-
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene
-
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. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 250 4983 (1990) 1000-1002
-
(1990)
Science
, vol.250
, Issue.4983
, pp. 1000-1002
-
-
Fontaine, B.1
Khurana, T.S.2
Hoffman, E.P.3
Bruns, G.A.4
Haines, J.L.5
Trofatter, J.A.6
Hanson, M.P.7
Rich, J.8
McFarlane, H.9
Yasek, D.M.10
-
24
-
-
0028361074
-
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
-
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. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat. Genet. 6 3 (1994) 267-272
-
(1994)
Nat. Genet.
, vol.6
, Issue.3
, pp. 267-272
-
-
Fontaine, B.1
Vale-Santos, J.2
Jurkat-Rott, K.3
Reboul, J.4
Plassart, E.5
Rime, C.S.6
Elbaz, A.7
Heine, R.8
Guimaraes, J.9
Weissenbach, J.10
-
25
-
-
33947532003
-
Hypokalemic periodic paralysis: A model for a clinical and research approach to a rare disorder
-
Fontaine B., Fournier E., Sternberg D., Vicart S., and Tabti N. Hypokalemic periodic paralysis: A model for a clinical and research approach to a rare disorder. Neurotherapeutics 4 2 (2007) 225-232
-
(2007)
Neurotherapeutics
, vol.4
, Issue.2
, pp. 225-232
-
-
Fontaine, B.1
Fournier, E.2
Sternberg, D.3
Vicart, S.4
Tabti, N.5
-
26
-
-
0030970835
-
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis
-
Fouad G., Dalakas M., Servidei S., Mendell J.R., Van den Bergh P., Angelini C., Alderson K., Griggs R.C., Tawil R., Gregg R., Hogan K., Powers P.A., et al. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul. Disord. 7 1 (1997) 33-38
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.1
, pp. 33-38
-
-
Fouad, G.1
Dalakas, M.2
Servidei, S.3
Mendell, J.R.4
Van den Bergh, P.5
Angelini, C.6
Alderson, K.7
Griggs, R.C.8
Tawil, R.9
Gregg, R.10
Hogan, K.11
Powers, P.A.12
-
27
-
-
9144223871
-
Electromyography guides toward subgroups of mutations in muscle channelopathies
-
Fournier E., Arzel M., Sternberg D., Vicart S., Laforet P., Eymard B., Willer J.C., Tabti N., and Fontaine B. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann. Neurol. 56 5 (2004) 650-661
-
(2004)
Ann. Neurol.
, vol.56
, Issue.5
, pp. 650-661
-
-
Fournier, E.1
Arzel, M.2
Sternberg, D.3
Vicart, S.4
Laforet, P.5
Eymard, B.6
Willer, J.C.7
Tabti, N.8
Fontaine, B.9
-
28
-
-
0014818105
-
Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness
-
Griggs R.C., Engel W.K., and Resnick J.S. Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness. Ann. Intern. Med. 73 1 (1970) 39-48
-
(1970)
Ann. Intern. Med.
, vol.73
, Issue.1
, pp. 39-48
-
-
Griggs, R.C.1
Engel, W.K.2
Resnick, J.S.3
-
29
-
-
0033594335
-
Defective slow inactivation of sodium channels contributes to familial periodic paralysis
-
Hayward L.J., Sandoval G.M., and Cannon S.C. Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 52 7 (1999) 1447-1453
-
(1999)
Neurology
, vol.52
, Issue.7
, pp. 1447-1453
-
-
Hayward, L.J.1
Sandoval, G.M.2
Cannon, S.C.3
-
30
-
-
0031038940
-
Spinal anesthesia for a patient with a calcium channel mutation causing hypokalemic periodic paralysis
-
Hecht M.L., Valtysson B., and Hogan K. Spinal anesthesia for a patient with a calcium channel mutation causing hypokalemic periodic paralysis. Anesth. Analg. 84 2 (1997) 461-464
-
(1997)
Anesth. Analg.
, vol.84
, Issue.2
, pp. 461-464
-
-
Hecht, M.L.1
Valtysson, B.2
Hogan, K.3
-
31
-
-
0031784206
-
The anesthetic myopathies and malignant hyperthermias
-
Hogan K. The anesthetic myopathies and malignant hyperthermias. Curr. Opin. Neurol. 11 5 (1998) 469-476
-
(1998)
Curr. Opin. Neurol.
, vol.11
, Issue.5
, pp. 469-476
-
-
Hogan, K.1
-
32
-
-
0029808873
-
A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation
-
Ikeda Y., Abe B., Watanabe M., Shoji M., Fontaine B., Itoyama Y., and Hirai S. A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation. Eur. J. Neurol. 3 (1996) 441-445
-
(1996)
Eur. J. Neurol.
, vol.3
, pp. 441-445
-
-
Ikeda, Y.1
Abe, B.2
Watanabe, M.3
Shoji, M.4
Fontaine, B.5
Itoyama, Y.6
Hirai, S.7
-
33
-
-
1842562313
-
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation
-
Jurkat-Rott K., and Lehmann-Horn F. Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. Neurology 62 6 (2004) 1012-1015
-
(2004)
Neurology
, vol.62
, Issue.6
, pp. 1012-1015
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
-
34
-
-
33947524340
-
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis
-
Jurkat-Rott K., and Lehmann-Horn F. Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. Neurotherapeutics 4 2 (2007) 216-224
-
(2007)
Neurotherapeutics
, vol.4
, Issue.2
, pp. 216-224
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
-
35
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat-Rott K., Lehmann-Horn F., Elbaz A., Heine R., Gregg R.G., Hogan K., Powers P.A., Lapie P., Vale-Santos J.E., Weissenbach J., et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum. Mol. Genet. 3 8 (1994) 1415-1419
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.8
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
Heine, R.4
Gregg, R.G.5
Hogan, K.6
Powers, P.A.7
Lapie, P.8
Vale-Santos, J.E.9
Weissenbach, J.10
-
36
-
-
0040565182
-
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
-
Jurkat-Rott K., Mitrovic N., Hang C., Kouzmekine A., Iaizzo P., Herzog J., Lerche H., Nicole S., Vale-Santos J., Chauveau D., Fontaine B., and Lehmann-Horn F. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc. Natl Acad. Sci. USA 97 17 (2000) 9549-9554
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, Issue.17
, pp. 9549-9554
-
-
Jurkat-Rott, K.1
Mitrovic, N.2
Hang, C.3
Kouzmekine, A.4
Iaizzo, P.5
Herzog, J.6
Lerche, H.7
Nicole, S.8
Vale-Santos, J.9
Chauveau, D.10
Fontaine, B.11
Lehmann-Horn, F.12
-
37
-
-
1842855957
-
A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women
-
Kawamura S., Ikeda Y., Tomita K., Watanabe N., and Seki K. A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women. Intern. Med. 43 3 (2004) 218-222
-
(2004)
Intern. Med.
, vol.43
, Issue.3
, pp. 218-222
-
-
Kawamura, S.1
Ikeda, Y.2
Tomita, K.3
Watanabe, N.4
Seki, K.5
-
38
-
-
0030970240
-
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., Yang W.S., Costigan D., Farrell M.A., Murphy S., and Hardiman O. 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. Neuromuscul. Disord. 7 2 (1997) 105-111
-
(1997)
Neuromuscul. Disord.
, vol.7
, Issue.2
, pp. 105-111
-
-
Kelly, P.1
Yang, W.S.2
Costigan, D.3
Farrell, M.A.4
Murphy, S.5
Hardiman, O.6
-
39
-
-
0035039125
-
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica
-
Kim J., Hahn Y., Sohn E.H., Lee Y.J., Yun J.H., Kim J.M., and Chung J.H. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J. Neurol. Neurosurg. Psychiatry 70 5 (2001) 618-623
-
(2001)
J. Neurol. Neurosurg. Psychiatry
, vol.70
, Issue.5
, pp. 618-623
-
-
Kim, J.1
Hahn, Y.2
Sohn, E.H.3
Lee, Y.J.4
Yun, J.H.5
Kim, J.M.6
Chung, J.H.7
-
40
-
-
33745786609
-
Clinical review: Thyrotoxic periodic paralysis: A diagnostic challenge
-
Kung A.W. Clinical review: Thyrotoxic periodic paralysis: A diagnostic challenge. J. Clin. Endocrinol. Metab. 91 7 (2006) 2490-2495
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, Issue.7
, pp. 2490-2495
-
-
Kung, A.W.1
-
41
-
-
0033947677
-
Exercise test in muscle channelopathies and other muscle disorders
-
Kuntzer T., Flocard F., Vial C., Kohler A., Magistris M., Labarre-Vila A., Gonnaud P.M., Ochsner F., Soichot P., Chan V., and Monnier G. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 23 7 (2000) 1089-1094
-
(2000)
Muscle Nerve
, vol.23
, Issue.7
, pp. 1089-1094
-
-
Kuntzer, T.1
Flocard, F.2
Vial, C.3
Kohler, A.4
Magistris, M.5
Labarre-Vila, A.6
Gonnaud, P.M.7
Ochsner, F.8
Soichot, P.9
Chan, V.10
Monnier, G.11
-
42
-
-
0029985820
-
Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells
-
Lapie P., Goudet C., Nargeot J., Fontaine B., and Lory P. Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells. FEBS Lett 382 3 (1996) 244-248
-
(1996)
FEBS Lett
, vol.382
, Issue.3
, pp. 244-248
-
-
Lapie, P.1
Goudet, C.2
Nargeot, J.3
Fontaine, B.4
Lory, P.5
-
43
-
-
0025107511
-
Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?
-
Lehmann-Horn F., and Iaizzo P.A. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?. Br. J. Anaesth. 65 5 (1990) 692-697
-
(1990)
Br. J. Anaesth.
, vol.65
, Issue.5
, pp. 692-697
-
-
Lehmann-Horn, F.1
Iaizzo, P.A.2
-
44
-
-
0027248018
-
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany
-
Lehmann-Horn F., Rudel R., and Ricker K. Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. Neuromuscul. Disord. 3 2 (1993) 161-168
-
(1993)
Neuromuscul. Disord.
, vol.3
, Issue.2
, pp. 161-168
-
-
Lehmann-Horn, F.1
Rudel, R.2
Ricker, K.3
-
46
-
-
17344392245
-
Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis
-
Links T.P., and van der Hoeven J.H. Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis. Muscle Nerve 23 2 (2000) 296
-
(2000)
Muscle Nerve
, vol.23
, Issue.2
, pp. 296
-
-
Links, T.P.1
van der Hoeven, J.H.2
-
47
-
-
0023720935
-
Improvement of muscle strength in familial hypokalaemic periodic paralysis with acetazolamide
-
Links T.P., Zwarts M.J., and Oosterhuis H.J. Improvement of muscle strength in familial hypokalaemic periodic paralysis with acetazolamide. J. Neurol. Neurosurg. Psychiatry 51 9 (1988) 1142-1145
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, Issue.9
, pp. 1142-1145
-
-
Links, T.P.1
Zwarts, M.J.2
Oosterhuis, H.J.3
-
48
-
-
0025670279
-
Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects
-
Links T.P., Zwarts M.J., Wilmink J.T., Molenaar W.M., and Oosterhuis H.J. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects. Brain 113 Pt. 6 (1990) 1873-1889
-
(1990)
Brain
, vol.113
, Issue.PART 6
, pp. 1873-1889
-
-
Links, T.P.1
Zwarts, M.J.2
Wilmink, J.T.3
Molenaar, W.M.4
Oosterhuis, H.J.5
-
49
-
-
0028269130
-
Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
-
Links T.P., Smit A.J., Molenaar W.M., Zwarts M.J., and Oosterhuis H.J. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J. Neurol. Sci. 122 1 (1994) 33-43
-
(1994)
J. Neurol. Sci.
, vol.122
, Issue.1
, pp. 33-43
-
-
Links, T.P.1
Smit, A.J.2
Molenaar, W.M.3
Zwarts, M.J.4
Oosterhuis, H.J.5
-
50
-
-
0028216659
-
Surface EMG and muscle fibre conduction during attacks of hypokalaemic periodic paralysis
-
Links T.P., van der Hoeven J.H., and Zwarts M.J. Surface EMG and muscle fibre conduction during attacks of hypokalaemic periodic paralysis. J. Neurol. Neurosurg. Psychiatry 57 5 (1994) 632-634
-
(1994)
J. Neurol. Neurosurg. Psychiatry
, vol.57
, Issue.5
, pp. 632-634
-
-
Links, T.P.1
van der Hoeven, J.H.2
Zwarts, M.J.3
-
51
-
-
0022469957
-
The exercise test in periodic paralysis
-
McManis P.G., Lambert E.H., and Daube J.R. The exercise test in periodic paralysis. Muscle Nerve 9 8 (1986) 704-710
-
(1986)
Muscle Nerve
, vol.9
, Issue.8
, pp. 704-710
-
-
McManis, P.G.1
Lambert, E.H.2
Daube, J.R.3
-
52
-
-
35448991345
-
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders
-
Michel P., Sternberg D., Jeannet P.Y., Dunand M., Thonney F., Kress W., Fontaine B., Fournier E., and Kuntzer T. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 36 5 (2007) 643-650
-
(2007)
Muscle Nerve
, vol.36
, Issue.5
, pp. 643-650
-
-
Michel, P.1
Sternberg, D.2
Jeannet, P.Y.3
Dunand, M.4
Thonney, F.5
Kress, W.6
Fontaine, B.7
Fournier, E.8
Kuntzer, T.9
-
53
-
-
8644259260
-
Correlating phenotype and genotype in the periodic paralyses
-
Miller T.M., Dias Da Silva M.R., Miller H.A., Kwiecinski H., Mendell J.R., Tawil R., McManis P., Griggs R.C., Angelini C., Servidei S., Petajan J., Dalakas M.C., et al. Correlating phenotype and genotype in the periodic paralyses. Neurology 63 9 (2004) 1647-1655
-
(2004)
Neurology
, vol.63
, Issue.9
, pp. 1647-1655
-
-
Miller, T.M.1
Dias Da Silva, M.R.2
Miller, H.A.3
Kwiecinski, H.4
Mendell, J.R.5
Tawil, R.6
McManis, P.7
Griggs, R.C.8
Angelini, C.9
Servidei, S.10
Petajan, J.11
Dalakas, M.C.12
-
54
-
-
0030922550
-
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
-
Monnier N., Procaccio V., Stieglitz P., and Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60 6 (1997) 1316-1325
-
(1997)
Am. J. Hum. Genet.
, vol.60
, Issue.6
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi, J.4
-
55
-
-
0033569448
-
Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes
-
Morrill J.A., and Cannon S.C. Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes. J. Physiol. 520 Pt. 2 (1999) 321-336
-
(1999)
J. Physiol.
, vol.520
, Issue.PART 2
, pp. 321-336
-
-
Morrill, J.A.1
Cannon, S.C.2
-
56
-
-
0035788438
-
Hyperkalemic periodic paralysis and paramyotonia congenita-a novel sodium channel mutation
-
Okuda S., Kanda F., Nishimoto K., Sasaki R., and Chihara K. Hyperkalemic periodic paralysis and paramyotonia congenita-a novel sodium channel mutation. J. Neurol. 248 11 (2001) 1003-1004
-
(2001)
J. Neurol.
, vol.248
, Issue.11
, pp. 1003-1004
-
-
Okuda, S.1
Kanda, F.2
Nishimoto, K.3
Sasaki, R.4
Chihara, K.5
-
57
-
-
0028221445
-
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 C.S., Recan D., Millasseau P., Eymard B., Pelletier J., Thomas C., Chapon F., Desnuelle C., et al. 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. Eur. J. Hum. Genet. 2 2 (1994) 110-124
-
(1994)
Eur. J. Hum. Genet.
, vol.2
, Issue.2
, pp. 110-124
-
-
Plassart, E.1
Reboul, J.2
Rime, C.S.3
Recan, D.4
Millasseau, P.5
Eymard, B.6
Pelletier, J.7
Thomas, C.8
Chapon, F.9
Desnuelle, C.10
-
58
-
-
0030271970
-
Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene
-
Plassart E., Eymard B., Maurs L., Hauw J.J., Lyon-Caen O., Fardeau M., and Fontaine B. Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J. Neurol. Sci. 142 1-2 (1996) 126-133
-
(1996)
J. Neurol. Sci.
, vol.142
, Issue.1-2
, pp. 126-133
-
-
Plassart, E.1
Eymard, B.2
Maurs, L.3
Hauw, J.J.4
Lyon-Caen, O.5
Fardeau, M.6
Fontaine, B.7
-
59
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S., Tsunoda A., Donaldson M.R., Iannaccone S.T., Brunt E., Barohn R., Clark J., Deymeer F., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 4 (2001) 511-519
-
(2001)
Cell
, vol.105
, Issue.4
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canun, S.4
Bendahhou, S.5
Tsunoda, A.6
Donaldson, M.R.7
Iannaccone, S.T.8
Brunt, E.9
Barohn, R.10
Clark, J.11
Deymeer, F.12
-
60
-
-
0025790174
-
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
-
Ptacek L.J., George Jr. A.L., Griggs R.C., Tawil R., Kallen R.G., Barchi R.L., Robertson M., and Leppert M.F. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67 5 (1991) 1021-1027
-
(1991)
Cell
, vol.67
, Issue.5
, pp. 1021-1027
-
-
Ptacek, L.J.1
George Jr., A.L.2
Griggs, R.C.3
Tawil, R.4
Kallen, R.G.5
Barchi, R.L.6
Robertson, M.7
Leppert, M.F.8
-
61
-
-
0027468893
-
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
-
Ptacek L.J., Gouw L., Kwiecinski H., McManis P., Mendell J.R., Barohn R.J., George Jr. A.L., Barchi R.L., Robertson M., and Leppert M.F. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann. Neurol. 33 3 (1993) 300-307
-
(1993)
Ann. Neurol.
, vol.33
, Issue.3
, pp. 300-307
-
-
Ptacek, L.J.1
Gouw, L.2
Kwiecinski, H.3
McManis, P.4
Mendell, J.R.5
Barohn, R.J.6
George Jr., A.L.7
Barchi, R.L.8
Robertson, M.9
Leppert, M.F.10
-
62
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptacek L.J., Tawil R., Griggs R.C., Engel A.G., Layzer R.B., Kwiecinski H., McManis P.G., Santiago L., Moore M., Fouad G., et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77 6 (1994) 863-868
-
(1994)
Cell
, vol.77
, Issue.6
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
Engel, A.G.4
Layzer, R.B.5
Kwiecinski, H.6
McManis, P.G.7
Santiago, L.8
Moore, M.9
Fouad, G.10
-
63
-
-
0014413462
-
Acetazolamide prophylaxis in hypokalemic periodic paralysis
-
Resnick J.S., Engel W.K., Griggs R.C., and Stam A.C. Acetazolamide prophylaxis in hypokalemic periodic paralysis. N. Engl. J. Med. 278 11 (1968) 582-586
-
(1968)
N. Engl. J. Med.
, vol.278
, Issue.11
, pp. 582-586
-
-
Resnick, J.S.1
Engel, W.K.2
Griggs, R.C.3
Stam, A.C.4
-
64
-
-
0022445799
-
Adynamia episodica and paralysis periodica paramyotonica
-
Ricker K., Rohkamm R., and Bohlen R. Adynamia episodica and paralysis periodica paramyotonica. Neurology 36 5 (1986) 682-686
-
(1986)
Neurology
, vol.36
, Issue.5
, pp. 682-686
-
-
Ricker, K.1
Rohkamm, R.2
Bohlen, R.3
-
65
-
-
0025932040
-
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis
-
Rojas C.V., Wang J.Z., Schwartz L.S., Hoffman E.P., Powell B.R., and Brown Jr. R.H. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 354 6352 (1991) 387-389
-
(1991)
Nature
, vol.354
, Issue.6352
, pp. 387-389
-
-
Rojas, C.V.1
Wang, J.Z.2
Schwartz, L.S.3
Hoffman, E.P.4
Powell, B.R.5
Brown Jr., R.H.6
-
66
-
-
0021368321
-
Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters
-
Rudel R., Lehmann-Horn F., Ricker K., and Kuther G. Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters. Muscle Nerve 7 2 (1984) 110-120
-
(1984)
Muscle Nerve
, vol.7
, Issue.2
, pp. 110-120
-
-
Rudel, R.1
Lehmann-Horn, F.2
Ricker, K.3
Kuther, G.4
-
67
-
-
0025832418
-
Calcium-tension relationships of muscle fibers from patients with periodic paralysis
-
Ruff R.L. Calcium-tension relationships of muscle fibers from patients with periodic paralysis. Muscle Nerve 14 9 (1991) 838-844
-
(1991)
Muscle Nerve
, vol.14
, Issue.9
, pp. 838-844
-
-
Ruff, R.L.1
-
68
-
-
0032744572
-
Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current
-
Ruff R.L. Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current. Neurology 53 7 (1999) 1556-1563
-
(1999)
Neurology
, vol.53
, Issue.7
, pp. 1556-1563
-
-
Ruff, R.L.1
-
69
-
-
41649089101
-
Slow inactivation: Slow but not dull
-
Ruff R.L. Slow inactivation: Slow but not dull. Neurology 70 10 (2008) 746-747
-
(2008)
Neurology
, vol.70
, Issue.10
, pp. 746-747
-
-
Ruff, R.L.1
-
70
-
-
0031046104
-
Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families
-
Sillen A., Sorensen T., Kantola I., Friis M.L., Gustavson K.H., and Wadelius C. Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. Am. J. Med. Genet. 69 1 (1997) 102-106
-
(1997)
Am. J. Med. Genet.
, vol.69
, Issue.1
, pp. 102-106
-
-
Sillen, A.1
Sorensen, T.2
Kantola, I.3
Friis, M.L.4
Gustavson, K.H.5
Wadelius, C.6
-
71
-
-
0034992428
-
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
-
Sternberg D., Maisonobe T., Jurkat-Rott K., Nicole S., Launay E., Chauveau D., Tabti N., Lehmann-Horn F., Hainque B., and Fontaine B. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 124 Pt. 6 (2001) 1091-1099
-
(2001)
Brain
, vol.124
, Issue.PART 6
, pp. 1091-1099
-
-
Sternberg, D.1
Maisonobe, T.2
Jurkat-Rott, K.3
Nicole, S.4
Launay, E.5
Chauveau, D.6
Tabti, N.7
Lehmann-Horn, F.8
Hainque, B.9
Fontaine, B.10
-
72
-
-
0141430108
-
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis
-
Sternberg D., Tabti N., Fournier E., Hainque B., and Fontaine B. Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. Neurology 61 6 (2003) 857-859
-
(2003)
Neurology
, vol.61
, Issue.6
, pp. 857-859
-
-
Sternberg, D.1
Tabti, N.2
Fournier, E.3
Hainque, B.4
Fontaine, B.5
-
73
-
-
0034643866
-
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis
-
Sugiura Y., Aoki T., Sugiyama Y., Hida C., Ogata M., and Yamamoto T. Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. Neurology 54 11 (2000) 2179-2181
-
(2000)
Neurology
, vol.54
, Issue.11
, pp. 2179-2181
-
-
Sugiura, Y.1
Aoki, T.2
Sugiyama, Y.3
Hida, C.4
Ogata, M.5
Yamamoto, T.6
-
74
-
-
3242681372
-
No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients
-
Tang N.L., Chow C.C., Ko G.T., Tai M.H., Kwok R., Yao X.Q., and Cockram C.S. No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. Clin. Endocrinol. (Oxf.) 61 1 (2004) 109-112
-
(2004)
Clin. Endocrinol. (Oxf.)
, vol.61
, Issue.1
, pp. 109-112
-
-
Tang, N.L.1
Chow, C.C.2
Ko, G.T.3
Tai, M.H.4
Kwok, R.5
Yao, X.Q.6
Cockram, C.S.7
-
75
-
-
0028298042
-
Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
-
Tawil R., Ptacek L.J., Pavlakis S.G., DeVivo D.C., Penn A.S., Ozdemir C., and Griggs R.C. Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann. Neurol. 35 3 (1994) 326-330
-
(1994)
Ann. Neurol.
, vol.35
, Issue.3
, pp. 326-330
-
-
Tawil, R.1
Ptacek, L.J.2
Pavlakis, S.G.3
DeVivo, D.C.4
Penn, A.S.5
Ozdemir, C.6
Griggs, R.C.7
-
76
-
-
0033958202
-
Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis
-
Tawil R., McDermott M.P., Brown Jr. R., Shapiro B.C., Ptacek L.J., McManis P.G., Dalakas M.C., Spector S.A., Mendell J.R., Hahn A.F., and Griggs R.C. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann. Neurol. 47 1 (2000) 46-53
-
(2000)
Ann. Neurol.
, vol.47
, Issue.1
, pp. 46-53
-
-
Tawil, R.1
McDermott, M.P.2
Brown Jr., R.3
Shapiro, B.C.4
Ptacek, L.J.5
McManis, P.G.6
Dalakas, M.C.7
Spector, S.A.8
Mendell, J.R.9
Hahn, A.F.10
Griggs, R.C.11
-
77
-
-
0019812005
-
Hypokalemic periodic paralysis exacerbated by acetazolamide
-
Torres C.F., Griggs R.C., Moxley R.T., and Bender A.N. Hypokalemic periodic paralysis exacerbated by acetazolamide. Neurology 31 11 (1981) 1423-1428
-
(1981)
Neurology
, vol.31
, Issue.11
, pp. 1423-1428
-
-
Torres, C.F.1
Griggs, R.C.2
Moxley, R.T.3
Bender, A.N.4
-
78
-
-
0033105775
-
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis
-
Tricarico D., Servidei S., Tonali P., Jurkat-Rott K., and Camerino D.C. Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis. J. Clin. Invest. 103 5 (1999) 675-682
-
(1999)
J. Clin. Invest.
, vol.103
, Issue.5
, pp. 675-682
-
-
Tricarico, D.1
Servidei, S.2
Tonali, P.3
Jurkat-Rott, K.4
Camerino, D.C.5
-
79
-
-
0033843765
-
Acetazolamide opens the muscular KCa2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis
-
Tricarico D., Barbieri M., and Camerino D.C. Acetazolamide opens the muscular KCa2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann. Neurol. 48 3 (2000) 304-312
-
(2000)
Ann. Neurol.
, vol.48
, Issue.3
, pp. 304-312
-
-
Tricarico, D.1
Barbieri, M.2
Camerino, D.C.3
-
80
-
-
8844247914
-
SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide
-
Venance S.L., Jurkat-Rott K., Lehmann-Horn F., and Tawil R. SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide. Neurology 63 10 (2004) 1977
-
(2004)
Neurology
, vol.63
, Issue.10
, pp. 1977
-
-
Venance, S.L.1
Jurkat-Rott, K.2
Lehmann-Horn, F.3
Tawil, R.4
-
81
-
-
30344434616
-
The primary periodic paralyses: Diagnosis, pathogenesis and treatment
-
Venance S.L., Cannon S.C., Fialho D., Fontaine B., Hanna M.G., Ptacek L.J., Tristani-Firouzi M., Tawil R., and Griggs R.C. The primary periodic paralyses: Diagnosis, pathogenesis and treatment. Brain 129 Pt. 1 (2006) 8-17
-
(2006)
Brain
, vol.129
, Issue.PART 1
, pp. 8-17
-
-
Venance, S.L.1
Cannon, S.C.2
Fialho, D.3
Fontaine, B.4
Hanna, M.G.5
Ptacek, L.J.6
Tristani-Firouzi, M.7
Tawil, R.8
Griggs, R.C.9
-
82
-
-
10444273389
-
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., and Fontaine B. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology 63 11 (2004) 2120-2127
-
(2004)
Neurology
, vol.63
, Issue.11
, pp. 2120-2127
-
-
Vicart, S.1
Sternberg, D.2
Fournier, E.3
Ochsner, F.4
Laforet, P.5
Kuntzer, T.6
Eymard, B.7
Hainque, B.8
Fontaine, B.9
-
83
-
-
0030697470
-
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 A.L., and Lehmann-Horn F. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 49 4 (1997) 1018-1025
-
(1997)
Neurology
, vol.49
, Issue.4
, pp. 1018-1025
-
-
Wagner, S.1
Lerche, H.2
Mitrovic, N.3
Heine, R.4
George, A.L.5
Lehmann-Horn, F.6
-
84
-
-
33749827245
-
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness
-
Weber M.A., Nielles-Vallespin S., Essig M., Jurkat-Rott K., Kauczor H.U., and Lehmann-Horn F. Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness. Neurology 67 7 (2006) 1151-1158
-
(2006)
Neurology
, vol.67
, Issue.7
, pp. 1151-1158
-
-
Weber, M.A.1
Nielles-Vallespin, S.2
Essig, M.3
Jurkat-Rott, K.4
Kauczor, H.U.5
Lehmann-Horn, F.6
-
85
-
-
0023853840
-
The muscle fiber conduction velocity and power spectra in familial hypokalemic periodic paralysis
-
Zwarts M.J., van Weerden T.W., Links T.P., Haenen H.T., and Oosterhuis H.J. The muscle fiber conduction velocity and power spectra in familial hypokalemic periodic paralysis. Muscle Nerve 11 2 (1988) 166-173
-
(1988)
Muscle Nerve
, vol.11
, Issue.2
, pp. 166-173
-
-
Zwarts, M.J.1
van Weerden, T.W.2
Links, T.P.3
Haenen, H.T.4
Oosterhuis, H.J.5
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