-
1
-
-
0036310758
-
An expanding view for the molecular basis of familial periodic paralysis
-
Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord 2002;12:533-543.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 533-543
-
-
Cannon, S.C.1
-
2
-
-
0036365532
-
Periodic paralyses and nondystrophic myotonias
-
Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol 2002;88:235-252.
-
(2002)
Adv Neurol
, vol.88
, pp. 235-252
-
-
Renner, D.R.1
Ptacek, L.J.2
-
3
-
-
0025774566
-
A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivation
-
Cannon SC, Brown RH, Jr., Corey DP. A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation. Neuron 1991;6:619-626.
-
(1991)
Neuron
, vol.6
, pp. 619-626
-
-
Cannon, S.C.1
Brown Jr., R.H.2
Corey, D.P.3
-
4
-
-
0025790174
-
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
-
Ptacek LJ, George AL, Jr., Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027.
-
(1991)
Cell
, vol.67
, pp. 1021-1027
-
-
Ptacek, L.J.1
George Jr., A.L.2
Griggs, R.C.3
-
5
-
-
0026317944
-
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. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet 1991;49:378-382.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 378-382
-
-
Ptacek, L.J.1
Tyler, F.2
Trimmer, J.S.3
Agnew, W.S.4
Leppert, M.5
-
6
-
-
0025649547
-
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene
-
Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990;250(4983):1000-1002.
-
(1990)
Science
, vol.250
, Issue.4983
, pp. 1000-1002
-
-
Fontaine, B.1
Khurana, T.S.2
Hoffman, E.P.3
-
7
-
-
0027991026
-
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994;44:1500-1503.
-
(1994)
Neurology
, vol.44
, pp. 1500-1503
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
8
-
-
0027468893
-
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
-
Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300-307.
-
(1993)
Ann Neurol
, vol.33
, pp. 300-307
-
-
Ptacek, L.J.1
Gouw, L.2
Kwiecinski, H.3
-
9
-
-
0026766904
-
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
-
Ptacek LJ, George AL, Jr., Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891-897.
-
(1992)
Neuron
, vol.8
, pp. 891-897
-
-
Ptacek, L.J.1
George Jr., A.L.2
Barchi, R.L.3
-
10
-
-
0026516209
-
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
-
McClatchey AI, Van den Bergh P, Pericak-Vance MA, 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.
-
(1992)
Cell
, vol.68
, pp. 769-774
-
-
McClatchey, A.I.1
Van Den Bergh, P.2
Pericak-Vance, M.A.3
-
11
-
-
0032801833
-
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
-
Bulman DE, Scoggan KA, van Oene MD, et al. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999;53:1932-1936.
-
(1999)
Neurology
, vol.53
, pp. 1932-1936
-
-
Bulman, D.E.1
Scoggan, K.A.2
Van Oene, M.D.3
-
12
-
-
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, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124(Pt 6):1091-1099.
-
(2001)
Brain
, vol.124
, Issue.6 PART
, pp. 1091-1099
-
-
Sternberg, D.1
Maisonobe, T.2
Jurkat-Rott, K.3
-
13
-
-
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, et al. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA 2000;97:9549-9554.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 9549-9554
-
-
Jurkat-Rott, K.1
Mitrovic, N.2
Hang, C.3
-
14
-
-
0035833968
-
Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK
-
Davies NP, Eunson LH, Samuel M, Hanna MG. Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Neurology 2001;57:1323-1325.
-
(2001)
Neurology
, vol.57
, pp. 1323-1325
-
-
Davies, N.P.1
Eunson, L.H.2
Samuel, M.3
Hanna, M.G.4
-
15
-
-
0034842191
-
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis
-
Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol 2001;50:417-420.
-
(2001)
Ann Neurol
, vol.50
, pp. 417-420
-
-
Bendahhou, S.1
Cummins, T.R.2
Griggs, R.C.3
Fu, Y.H.4
Ptacek, L.J.5
-
16
-
-
0030970835
-
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis
-
Fouad G, Dalakas M, Servidei S, et al. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord 1997;7:33-38.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 33-38
-
-
Fouad, G.1
Dalakas, M.2
Servidei, S.3
-
17
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3:1415-1419.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
-
18
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77:863-868.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
19
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002;110:381-388.
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
-
20
-
-
0037777713
-
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
-
Donaldson MR, Jensen JL, Tristani-Firouzi M, et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 2003;60:1811-1816.
-
(2003)
Neurology
, vol.60
, pp. 1811-1816
-
-
Donaldson, M.R.1
Jensen, J.L.2
Tristani-Firouzi, M.3
-
21
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
-
22
-
-
0035951404
-
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis
-
Abbott GW, Butler MH, Bendahhou S, et al. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 2001;104:217-231.
-
(2001)
Cell
, vol.104
, pp. 217-231
-
-
Abbott, G.W.1
Butler, M.H.2
Bendahhou, S.3
-
23
-
-
0141430108
-
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis
-
Sternberg D, Tabti N, Fournier E, Hainque B, Fontaine B. Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. Neurology 2003;61:857-859.
-
(2003)
Neurology
, vol.61
, pp. 857-859
-
-
Sternberg, D.1
Tabti, N.2
Fournier, E.3
Hainque, B.4
Fontaine, B.5
-
24
-
-
0022213412
-
Hypokalemic periodic paralysis secondary to renal tubular acidosis
-
Christensen KS. Hypokalemic periodic paralysis secondary to renal tubular acidosis. Eur Neurol 1985;24:303-305.
-
(1985)
Eur Neurol
, vol.24
, pp. 303-305
-
-
Christensen, K.S.1
-
25
-
-
0036845343
-
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis
-
Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM. A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. J Clin Endocrinol Metab 2002;87:4881-4884.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4881-4884
-
-
Dias Da Silva, M.R.1
Cerutti, J.M.2
Arnaldi, L.A.3
Maciel, R.M.4
-
26
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003;60:657-664.
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
-
27
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293(5531):864-867.
-
(2001)
Science
, vol.293
, Issue.5531
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
-
28
-
-
0033842533
-
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
-
Bendahhou S, Cummins TR, Hahn AF, et al. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 2000;106:431-438.
-
(2000)
J Clin Invest
, vol.106
, pp. 431-438
-
-
Bendahhou, S.1
Cummins, T.R.2
Hahn, A.F.3
-
29
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
-
30
-
-
0141959173
-
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis
-
Sugiura Y, Makita N, Li L, et al. Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. Neurology 2003;61:914-918.
-
(2003)
Neurology
, vol.61
, pp. 914-918
-
-
Sugiura, Y.1
Makita, N.2
Li, L.3
-
31
-
-
0025062007
-
Progressive myopathy in hyperkalemic periodic paralysis
-
Bradley WG, Taylor R, Rice DR, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol 1990;47:1013-1017.
-
(1990)
Arch Neurol
, vol.47
, pp. 1013-1017
-
-
Bradley, W.G.1
Taylor, R.2
Rice, D.R.3
-
32
-
-
0025670279
-
Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects
-
Links TP, Zwarts MJ, Wilmink JT, Molenaar WM, Oosterhuis HJ. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects. Brain 1990;113(Pt 6):1873-1889.
-
(1990)
Brain
, vol.113
, Issue.6 PART
, pp. 1873-1889
-
-
Links, T.P.1
Zwarts, M.J.2
Wilmink, J.T.3
Molenaar, W.M.4
Oosterhuis, H.J.5
-
33
-
-
0028269130
-
Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
-
Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJ. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
-
(1994)
J Neurol Sci
, vol.122
, pp. 33-43
-
-
Links, T.P.1
Smit, A.J.2
Molenaar, W.M.3
Zwarts, M.J.4
Oosterhuis, H.J.5
-
34
-
-
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, 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 1995;56:374-380.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 374-380
-
-
Elbaz, A.1
Vale-Santos, J.2
Jurkat-Rott, K.3
-
36
-
-
0037161246
-
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
-
Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptacek LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology 2002;58:1266-1272.
-
(2002)
Neurology
, vol.58
, pp. 1266-1272
-
-
Bendahhou, S.1
Cummins, T.R.2
Kula, R.W.3
Fu, Y.H.4
Ptacek, L.J.5
-
37
-
-
0842330660
-
Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel
-
Kuzmenkin A, Jurkat-Rott K, Lehmann-Horn F, Mitrovic N. Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel. Pflugers Arch 2003;447: 71-77.
-
(2003)
Pflugers Arch
, vol.447
, pp. 71-77
-
-
Kuzmenkin, A.1
Jurkat-Rott, K.2
Lehmann-Horn, F.3
Mitrovic, N.4
-
38
-
-
0033958202
-
Randomized trials of dichlorphenamide in the periodic paralyses
-
Working Group on Periodic Paralysis
-
Tawil R, McDermott MP, Brown R, Jr., et al. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol 2000;47:46-53.
-
(2000)
Ann Neurol
, vol.47
, pp. 46-53
-
-
Tawil, R.1
McDermott, M.P.2
Brown Jr., R.3
|