-
1
-
-
0026047223
-
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodiumchannel gene locus
-
Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodiumchannel gene locus. Am J Hum Genet 1991;49:851-854.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 851-854
-
-
Ptacek, L.J.1
Trimmer, J.S.2
Agnew, W.S.3
Roberts, J.W.4
Petajan, J.H.5
Leppert, M.6
-
2
-
-
0029857311
-
Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na channels expressed in a mammalian cell line
-
Fan Z, George AL Jr, Kyle JW, Makielski JC. Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na channels expressed in a mammalian cell line. J Physiol 1996;496:275-286.
-
(1996)
J Physiol
, vol.496
, pp. 275-286
-
-
Fan, Z.1
George Jr., A.L.2
Kyle, J.W.3
Makielski, J.C.4
-
3
-
-
39749130004
-
Differential diagnosis of myotonic disorders
-
Miller TM. Differential diagnosis of myotonic disorders. Muscle Nerve 2008;37:293-299.
-
(2008)
Muscle Nerve
, vol.37
, pp. 293-299
-
-
Miller, T.M.1
-
4
-
-
0028326016
-
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation
-
Chahine M, George AL Jr, Zhou M, et al. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 1994;12:281-294.
-
(1994)
Neuron
, vol.12
, pp. 281-294
-
-
Chahine, M.1
George Jr., A.L.2
Zhou, M.3
-
5
-
-
55749099355
-
Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating
-
Groome JR, Larsen MF, Coonts A. Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. Channels (Austin) 2008;2:39-50.
-
(2008)
Channels (Austin)
, vol.2
, pp. 39-50
-
-
Groome, J.R.1
Larsen, M.F.2
Coonts, A.3
-
6
-
-
65249176705
-
Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia
-
Carle T, Fournier E, Sternberg D, Fontaine B, Tabti N. Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia. J Physiol 2009;587:1705-1714.
-
(2009)
J Physiol
, vol.587
, pp. 1705-1714
-
-
Carle, T.1
Fournier, E.2
Sternberg, D.3
Fontaine, B.4
Tabti, N.5
-
7
-
-
77955568196
-
Sodium channelopathies of skeletal muscle result from gain or loss of function
-
Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F. Sodium channelopathies of skeletal muscle result from gain or loss of function. Pflugers Arch 2010;460:239-248.
-
(2010)
Pflugers Arch
, vol.460
, pp. 239-248
-
-
Jurkat-Rott, K.1
Holzherr, B.2
Fauler, M.3
Lehmann-Horn, F.4
-
8
-
-
81455136766
-
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness: Exclusion of CLCN1 exon deletion/duplication by MLPA
-
Lehmann-Horn F, Orth M, Kuhn M, Jurkat-Rott K. A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness: exclusion of CLCN1 exon deletion/duplication by MLPA. Acta Myol 2011;30:133-137.
-
(2011)
Acta Myol
, vol.30
, pp. 133-137
-
-
Lehmann-Horn, F.1
Orth, M.2
Kuhn, M.3
Jurkat-Rott, K.4
-
9
-
-
9144223871
-
Electromyography guides toward subgroups of mutations in muscle channelopathies
-
Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004;56:650-661.
-
(2004)
Ann Neurol
, vol.56
, pp. 650-661
-
-
Fournier, E.1
Arzel, M.2
Sternberg, D.3
-
10
-
-
0028279432
-
Paramyotonia congenita: Abnormal short exercise test, and improvement after mexiletine therapy
-
Jackson CE, Barohn RJ, Ptacek LJ. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve 1994;17:763-768.
-
(1994)
Muscle Nerve
, vol.17
, pp. 763-768
-
-
Jackson, C.E.1
Barohn, R.J.2
Ptacek, L.J.3
-
11
-
-
33749493507
-
Cold extends electromyography distinction between ion channel mutations causing myotonia
-
Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365.
-
(2006)
Ann Neurol
, vol.60
, pp. 356-365
-
-
Fournier, E.1
Viala, K.2
Gervais, H.3
-
13
-
-
0030936432
-
Human Na channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes
-
Richmond JE, Featherstone DE, Ruben PC. Human Na channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. J Physiol 1997;499:589-600.
-
(1997)
J Physiol
, vol.499
, pp. 589-600
-
-
Richmond, J.E.1
Featherstone, D.E.2
Ruben, P.C.3
-
14
-
-
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
-
15
-
-
0029976727
-
Impaired slow inactivation in mutant sodium channels
-
Cummins TR, Sigworth FJ. Impaired slow inactivation in mutant sodium channels. BiophysJ 1996;71:227-236.
-
(1996)
BiophysJ
, vol.71
, pp. 227-236
-
-
Cummins, T.R.1
Sigworth, F.J.2
-
16
-
-
0028379446
-
Slow Na channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis
-
Ruff RL. Slow Na channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis. BiophysJ 1994;66:542.
-
(1994)
BiophysJ
, vol.66
, pp. 542
-
-
Ruff, R.L.1
-
17
-
-
0033565822
-
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans
-
Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptacek LJ. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J Physiol 1999;518:337-344.
-
(1999)
J Physiol
, vol.518
, pp. 337-344
-
-
Bendahhou, S.1
Cummins, T.R.2
Kwiecinski, H.3
Waxman, S.G.4
Ptacek, L.J.5
-
18
-
-
0028088644
-
Muscle sodium channel inactivation defect in paramyotonia congenita with the Thr1313Met mutation
-
Tahmoush AJ, Schaller KL, Zhang P, Hyslop T, Heiman-Patterson T, Caldwell JH. Muscle sodium channel inactivation defect in paramyotonia congenita with the Thr1313Met mutation. Neuromuscul Disord 1994;4:447-454.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 447-454
-
-
Tahmoush, A.J.1
Schaller, K.L.2
Zhang, P.3
Hyslop, T.4
Heiman-Patterson, T.5
Caldwell, J.H.6
-
19
-
-
1242296381
-
Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans
-
Bouhours M, Sternberg D, Davoine CS, et al. Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. J Physiol 2004;554:635-647.
-
(2004)
J Physiol
, vol.554
, pp. 635-647
-
-
Bouhours, M.1
Sternberg, D.2
Davoine, C.S.3
-
20
-
-
0032521124
-
Functional expression of the Ile693Thr Na channel mutation associated with paramyotonia congenita in a human cell line
-
Plassart-Schiess E, Lhuillier L, George AL Jr, Fontaine B, Tabti N. Functional expression of the Ile693Thr Na channel mutation associated with paramyotonia congenita in a human cell line. J Physiol 1998;507:721-727.
-
(1998)
J Physiol
, vol.507
, pp. 721-727
-
-
Plassart-Schiess, E.1
Lhuillier, L.2
George Jr., A.L.3
Fontaine, B.4
Tabti, N.5
-
21
-
-
0032007991
-
A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita
-
Featherstone DE, Fujimoto E, Ruben PC. A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita. J Physiol 1998;506:627-638.
-
(1998)
J Physiol
, vol.506
, pp. 627-638
-
-
Featherstone, D.E.1
Fujimoto, E.2
Ruben, P.C.3
-
22
-
-
37849048763
-
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed
-
Matthews E, Tan SV, Fialho D, et al. What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Neurology 2008;70:50-53.
-
(2008)
Neurology
, vol.70
, pp. 50-53
-
-
Matthews, E.1
Tan, S.V.2
Fialho, D.3
-
24
-
-
0025021977
-
Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family
-
de Silva SM, Kuncl RW, Griffin JW, Cornblath DR, Chavoustie S. Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve 1990;13:21-26.
-
(1990)
Muscle Nerve
, vol.13
, pp. 21-26
-
-
De Silva, S.M.1
Kuncl, R.W.2
Griffin, J.W.3
Cornblath, D.R.4
Chavoustie, S.5
-
25
-
-
45749155596
-
Differential block of sensory neuronal voltage-gated sodium channels by lacosamide [(2R)-2-(acetylamino)-iV-benzyl-3-methoxypropanamide], lidocaine, and carbamazepine
-
Sheets PL, Heers C, Stoehr T, Cummins TR. Differential block of sensory neuronal voltage-gated sodium channels by lacosamide [(2R)-2-(acetylamino)-iV- benzyl-3-methoxypropanamide], lidocaine, and carbamazepine. J Pharmacol Exp Ther 2008;326:89-99.
-
(2008)
J Pharmacol Exp Ther
, vol.326
, pp. 89-99
-
-
Sheets, P.L.1
Heers, C.2
Stoehr, T.3
Cummins, T.R.4
-
26
-
-
64149119680
-
Block of tetrodotoxin-sensitive, NaV17 and tetrodotoxin-resistant, NaV18, Na channels by ranolazine
-
Rajamani S, Shryock JC, Belardinelli L. Block of tetrodotoxin-sensitive, NaV17 and tetrodotoxin-resistant, NaV18, Na channels by ranolazine. Channels (Austin) 2008;2:449-460.
-
(2008)
Channels (Austin)
, vol.2
, pp. 449-460
-
-
Rajamani, S.1
Shryock, J.C.2
Belardinelli, L.3
-
28
-
-
0028923465
-
Recommendations for standardized human pedigree nomenclature: Pedigree Standardization Task Force of the National Society of Genetic Counselors
-
Bennett RL, Steinhaus KA, Uhrich SB, et al. Recommendations for standardized human pedigree nomenclature: Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 1995;56:745-752.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 745-752
-
-
Bennett, R.L.1
Steinhaus, K.A.2
Uhrich, S.B.3
|