-
1
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
Steinmeyer, K.2
Lorenz, C.3
-
2
-
-
0031596021
-
ClC-1 chloride channel mutations in myotonia congenital variable penetrance of mutations shifting the voltage dependence
-
Kubisch C, Schmidt-Rose T, Fontaine B, et al. ClC-1 chloride channel mutations in myotonia congenital variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 1998;7:1753-60.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1753-1760
-
-
Kubisch, C.1
Schmidt-Rose, T.2
Fontaine, B.3
-
3
-
-
0036846792
-
Novel CLCN1 mutations with unique clinical and electrophysiological consequences
-
Wu FF, Ryan A, Devaney J, et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002;125:2392-407.
-
(2002)
Brain
, vol.125
, pp. 2392-2407
-
-
Wu, F.F.1
Ryan, A.2
Devaney, J.3
-
4
-
-
0026717853
-
Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine
-
Ceccarelli M, Rossi B, Siciliano G, et al. Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine. Acta Paediatr 1992;81:453-5.
-
(1992)
Acta Paediatr
, vol.81
, pp. 453-455
-
-
Ceccarelli, M.1
Rossi, B.2
Siciliano, G.3
-
5
-
-
0028061597
-
Myotonia fluctuans. A third type of muscle sodium channel disease
-
Ricker K, Moxley RT 3rd, Heine R, et al. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-102.
-
(1994)
Arch Neurol
, vol.51
, pp. 1095-1102
-
-
Ricker, K.1
Moxley II, R.T.2
Heine, R.3
-
6
-
-
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;44:1500-3.
-
(1994)
Neurology
, vol.44
, pp. 1500-1503
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
7
-
-
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;8:891-7.
-
(1992)
Neuron
, vol.8
, pp. 891-897
-
-
Ptacek, L.J.1
George Jr., A.L.2
Barchi, R.L.3
-
8
-
-
0034093449
-
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita
-
Davies NP, Eunson LH, Gregory RP, et al. Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. J Neurol Neurosurg Psychiatry 2000;68:504-7.
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.68
, pp. 504-507
-
-
Davies, N.P.1
Eunson, L.H.2
Gregory, R.P.3
-
9
-
-
0342615025
-
Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis
-
Weckbecker K, Wurz A, Mohammadi B, et al. Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis. Neuromuscul Disord 2000;10:31-9.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 31-39
-
-
Weckbecker, K.1
Wurz, A.2
Mohammadi, B.3
-
10
-
-
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;67:1021-7.
-
(1991)
Cell
, vol.67
, pp. 1021-1027
-
-
Ptacek, L.J.1
George Jr., A.L.2
Griggs, R.C.3
-
11
-
-
0033594335
-
Defective slow inactivation of sodium channels contributes to familial periodic paralysis
-
Hayward LJ, Sandoval GM, Cannon SC. Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 1999;52:1447-53.
-
(1999)
Neurology
, vol.52
, pp. 1447-1453
-
-
Hayward, L.J.1
Sandoval, G.M.2
Cannon, S.C.3
-
12
-
-
0031873856
-
Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A)
-
Hanna MG, Stewart J, Schapira AH, et al. Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A). J Neurol Neurosurg Psychiatry 1998;65:248-50.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 248-250
-
-
Hanna, M.G.1
Stewart, J.2
Schapira, A.H.3
-
13
-
-
0016801672
-
Hyperkalemic periodic paralysis. Effects of potassium, exercise, glucose, and acetazolamide on blood chemistry
-
Hoskins B, Vroom FQ, Jarrell MA. Hyperkalemic periodic paralysis. Effects of potassium, exercise, glucose, and acetazolamide on blood chemistry. Arch Neurol 1975;32:519-23.
-
(1975)
Arch Neurol
, vol.32
, pp. 519-523
-
-
Hoskins, B.1
Vroom, F.Q.2
Jarrell, M.A.3
-
14
-
-
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;104:217-31.
-
(2001)
Cell
, vol.104
, pp. 217-231
-
-
Abbott, G.W.1
Butler, M.H.2
Bendahhou, S.3
-
15
-
-
0030768672
-
Andersen's syndrome: A distinct periodic paralysis
-
Sansone V, Griggs RC, Meola G, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997;42:305-12.
-
(1997)
Ann Neurol
, vol.42
, pp. 305-312
-
-
Sansone, V.1
Griggs, R.C.2
Meola, G.3
-
16
-
-
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;105:511-19.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
-
17
-
-
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;110:381-8.
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
-
18
-
-
0037072306
-
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome
-
Junker J, Haverkamp W, Schulze-Bahr E, et al. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology 2002;59:466.
-
(2002)
Neurology
, vol.59
, pp. 466
-
-
Junker, J.1
Haverkamp, W.2
Schulze-Bahr, E.3
-
19
-
-
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;77:863-8.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
20
-
-
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;3:1415-19.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
-
21
-
-
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;124:1091-9.
-
(2001)
Brain
, vol.124
, pp. 1091-1099
-
-
Sternberg, D.1
Maisonobe, T.2
Jurkat-Rott, K.3
-
22
-
-
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;53:1932-6.
-
(1999)
Neurology
, vol.53
, pp. 1932-1936
-
-
Bulman, D.E.1
Scoggan, K.A.2
Van Oene, M.D.3
-
23
-
-
0035833968
-
Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK
-
Davies NP, Eunson LH, Samuel M, et al. Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Neurology 2001;57:1323-5.
-
(2001)
Neurology
, vol.57
, pp. 1323-1325
-
-
Davies, N.P.1
Eunson, L.H.2
Samuel, M.3
-
24
-
-
0037344927
-
Thyrotoxic, hypokalaemic periodic paralysis in Australasian men
-
Tran HA, Kay Se, Kende M, et al. Thyrotoxic, hypokalaemic periodic paralysis in Australasian men. Intern Med J 2003;33:91-4.
-
(2003)
Intern Med J
, vol.33
, pp. 91-94
-
-
Tran, H.A.1
Kay, Se.2
Kende, M.3
-
25
-
-
0031784206
-
The anesthetic myopathies and malignant hyperthermias
-
Hogan K. The anesthetic myopathies and malignant hyperthermias. Curr Opin Neurol 1998;11:469-76.
-
(1998)
Curr Opin Neurol
, vol.11
, pp. 469-476
-
-
Hogan, K.1
-
27
-
-
0035958043
-
Dantrolene inhibition of ryanodine receptor Ca2+ release channels. Molecular mechanism and isoform selectivity
-
Zhao F, Li P, Chen SR, et al. Dantrolene inhibition of ryanodine receptor Ca2+ release channels. Molecular mechanism and isoform selectivity. J Biol Chem 2001;276:13810-16.
-
(2001)
J Biol Chem
, vol.276
, pp. 13810-13816
-
-
Zhao, F.1
Li, P.2
Chen, S.R.3
-
28
-
-
0027083620
-
The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia
-
MacLennan DH, Otsu K, Fujii J, et al. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia. Symp Soc Exp Biol 1992;46:189-201.
-
(1992)
Symp Soc Exp Biol
, vol.46
, pp. 189-201
-
-
MacLennan, D.H.1
Otsu, K.2
Fujii, J.3
-
29
-
-
0028207086
-
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: Implications for diagnosis and heterogeneity studies
-
Quane KA, Keating KE, Manning BM, et al. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet 1994;3:471-6.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 471-476
-
-
Quane, K.A.1
Keating, K.E.2
Manning, B.M.3
-
30
-
-
17344368549
-
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation
-
Manning BM, Quane KA, Ording H, et al. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998;62:599-609.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 599-609
-
-
Manning, B.M.1
Quane, K.A.2
Ording, H.3
-
31
-
-
0033782713
-
Multiple interacting gene products may influence susceptibility to malignant hyperthermia
-
Robinson RL, Curran JL, Ellis FR, et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet 2000;64:307-20.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 307-320
-
-
Robinson, R.L.1
Curran, J.L.2
Ellis, F.R.3
-
32
-
-
0032567985
-
Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree
-
Moslehi R, Langlois S, Yam I, et al. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet 1998;76:21-7.
-
(1998)
Am J Med Genet
, vol.76
, pp. 21-27
-
-
Moslehi, R.1
Langlois, S.2
Yam, I.3
-
33
-
-
0028243282
-
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
-
Iles DE, Lehmann-Horn F, Scherer SW, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 1994;3:969-75.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 969-975
-
-
Iles, D.E.1
Lehmann-Horn, F.2
Scherer, S.W.3
-
34
-
-
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, et al. 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 1997;60:1316-25.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
-
35
-
-
0035096493
-
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia
-
Stewart SL, Hogan K, Rosenberg H, et al. Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet 2001;59:178-84.
-
(2001)
Clin Genet
, vol.59
, pp. 178-184
-
-
Stewart, S.L.1
Hogan, K.2
Rosenberg, H.3
-
36
-
-
0028929891
-
Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
-
Sudbrak R, Procaccio V, Klausnitzer M, et al. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 1995;56:684-91.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 684-691
-
-
Sudbrak, R.1
Procaccio, V.2
Klausnitzer, M.3
-
37
-
-
8244242525
-
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
-
Robinson RL, Monnier N, Wolz W, et al. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 1997;6:953-61.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 953-961
-
-
Robinson, R.L.1
Monnier, N.2
Wolz, W.3
-
38
-
-
0034326318
-
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
-
Monnier N, Romero NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000;9:2599-608.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2599-2608
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
-
39
-
-
0037233692
-
Congenital myasthenic syndromes: Progress over the past decade
-
Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve 2003;27:4-25.
-
(2003)
Muscle Nerve
, vol.27
, pp. 4-25
-
-
Engel, A.G.1
Ohno, K.2
Sine, S.M.3
-
41
-
-
0035811775
-
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
-
Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 2001;345:17-24.
-
(2001)
N Engl J Med
, vol.345
, pp. 17-24
-
-
Ducros, A.1
Denier, C.2
Joutel, A.3
-
42
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8:136-40.
-
(1994)
Nat Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
43
-
-
0029560754
-
Episodic ataxia results from voltage-dependent potassium channels with altered functions
-
Adelman JP, Bond CT, Pessia M, et al. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 1995;15:1449-54.
-
(1995)
Neuron
, vol.15
, pp. 1449-1454
-
-
Adelman, J.P.1
Bond, C.T.2
Pessia, M.3
-
44
-
-
0033797135
-
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
-
Eunson LH, Rea R, Zuberi SM, et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000;48:647-56.
-
(2000)
Ann Neurol
, vol.48
, pp. 647-656
-
-
Eunson, L.H.1
Rea, R.2
Zuberi, S.M.3
-
45
-
-
0032975258
-
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
-
Denier C, Ducros A, Vahedi K, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999;52:1816-21.
-
(1999)
Neurology
, vol.52
, pp. 1816-1821
-
-
Denier, C.1
Ducros, A.2
Vahedi, K.3
-
46
-
-
0027330927
-
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
-
Shiang R, Ryan SG, Zhu YZ, et al. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993;5:351-8.
-
(1993)
Nat Genet
, vol.5
, pp. 351-358
-
-
Shiang, R.1
Ryan, S.G.2
Zhu, Y.Z.3
-
47
-
-
0036843702
-
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
-
Howard HC, Mount DB, Rochefort D, et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet 2002;32:384-92.
-
(2002)
Nat Genet
, vol.32
, pp. 384-392
-
-
Howard, H.C.1
Mount, D.B.2
Rochefort, D.3
-
48
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-6.
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Biervert, C.1
Schroeder, B.C.2
Kubisch, C.3
-
49
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
-
(1998)
Nat Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
50
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-5.
-
(1998)
Nat Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
-
51
-
-
0030943313
-
Generalised epilepsy with febrile seizures plus. A genetic disorder with heterogenous clinical phenotypes
-
Scheffer IE, Berkovic SF. Generalised epilepsy with febrile seizures plus. A genetic disorder with heterogenous clinical phenotypes. Brain 1997;120:479-90.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
52
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
-
Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998;19:366-70.
-
(1998)
Nat Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
-
53
-
-
0141653010
-
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
-
Audenaert D, Claes L, Ceulemans B, et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003;61:854-6.
-
(2003)
Neurology
, vol.61
, pp. 854-856
-
-
Audenaert, D.1
Claes, L.2
Ceulemans, B.3
-
54
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343-5.
-
(2000)
Nat Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
-
55
-
-
0035030766
-
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene
-
Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28:46-8.
-
(2001)
Nat Genet
, vol.28
, pp. 46-48
-
-
Baulac, S.1
Huberfeld, G.2
Gourfinkel-An, I.3
-
56
-
-
0035033520
-
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace RH, Marini C, Petrou S, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
-
(2001)
Nat Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
-
57
-
-
14344277590
-
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
-
Sugawara T, Tsurubuchi Y, Agarwala KL, et al. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A 2001;98:6384-9.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 6384-6389
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Agarwala, K.L.3
-
58
-
-
0028900303
-
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995;118(pt 1):61-73.
-
(1995)
Brain
, vol.118
, Issue.PART 1
, pp. 61-73
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
-
59
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
-
(1995)
Nat Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
60
-
-
0033763090
-
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-6.
-
(2000)
Nat Genet
, vol.26
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
-
61
-
-
0041343159
-
Association between genetic variation of CACNA1H and childhood absence epilepsy
-
Chen Y, Lu J, Pan H, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 2003;54:239-43.
-
(2003)
Ann Neurol
, vol.54
, pp. 239-243
-
-
Chen, Y.1
Lu, J.2
Pan, H.3
-
62
-
-
1642323362
-
Gating effects of mutations in the Ca 3.2 T-type calcium channel associated with childhood absence epilepsy
-
Khosravani H, Altier C, Simms B, et al. Gating effects of mutations in the Ca 3.2 T-type calcium channel associated with childhood absence epilepsy. J Biol Chem 2004;279:9681-4.
-
(2004)
J Biol Chem
, vol.279
, pp. 9681-9684
-
-
Khosravani, H.1
Altier, C.2
Simms, B.3
-
63
-
-
1642372685
-
Genetic variation of CACNA1H in idiopathic generalised epilepsy
-
Heron SE, Phillips HA, Mulley JC, et al. Genetic variation of CACNA1H in idiopathic generalised epilepsy. Ann Neurol 2004;55:595-6.
-
(2004)
Ann Neurol
, vol.55
, pp. 595-596
-
-
Heron, S.E.1
Phillips, H.A.2
Mulley, J.C.3
-
64
-
-
0032965649
-
Specificity of omega-conotoxin MVIIC-binding and -blocking calcium channel antibodies in Lambert-Eaton myasthenic syndrome
-
Nakao YK, Motomura M, Suenaga A, et al. Specificity of omega-conotoxin MVIIC-binding and -blocking calcium channel antibodies in Lambert-Eaton myasthenic syndrome. J Neurol 1999;246:38-44.
-
(1999)
J Neurol
, vol.246
, pp. 38-44
-
-
Nakao, Y.K.1
Motomura, M.2
Suenaga, A.3
-
65
-
-
0036265916
-
Isaacs' syndrome as a potassium channelopathy of the nerve
-
Arimura K, Sonoda Y, Watanabe O, et al. Isaacs' syndrome as a potassium channelopathy of the nerve. Muscle Nerve 2002;suppl 11:S55-8.
-
(2002)
Muscle Nerve
, Issue.SUPPL. 11
-
-
Arimura, K.1
Sonoda, Y.2
Watanabe, O.3
-
66
-
-
0031049188
-
Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia
-
Hart IK, Waters C, Vincent A, et al. Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Ann Neurol 1997;41:238-46.
-
(1997)
Ann Neurol
, vol.41
, pp. 238-246
-
-
Hart, I.K.1
Waters, C.2
Vincent, A.3
-
67
-
-
0028882747
-
Acquired neuromyotonia: Evidence for autoantibodies directed against K+ channels of peripheral nerves
-
Shillito P, Molenaar PC, Vincent A, et al. Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Ann Neurol 1995;38:714-22.
-
(1995)
Ann Neurol
, vol.38
, pp. 714-722
-
-
Shillito, P.1
Molenaar, P.C.2
Vincent, A.3
-
68
-
-
0037677572
-
Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: Analysis of 50 patients
-
Shams'ili S, Grefkens J, de Leeuw B, et al. Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients. Brain 2003;126:1409-18.
-
(2003)
Brain
, vol.126
, pp. 1409-1418
-
-
Shams'ili, S.1
Grefkens, J.2
De Leeuw, B.3
-
69
-
-
0037236558
-
Reduction of P/Q-type calcium channels in the postmortem cerebellum of paraneoplastic cerebellar degeneration with Lambert-Eaton myasthenic syndrome
-
Fukuda T, Motomura M, Nakao Y, et al. Reduction of P/Q-type calcium channels in the postmortem cerebellum of paraneoplastic cerebellar degeneration with Lambert-Eaton myasthenic syndrome. Ann Neurol 2003;53:21-8.
-
(2003)
Ann Neurol
, vol.53
, pp. 21-28
-
-
Fukuda, T.1
Motomura, M.2
Nakao, Y.3
-
70
-
-
0037056395
-
P/Q type calcium-channel antibodies in paraneoplastic cerebellar degeneration with lung cancer
-
Graus F, Lang B, Pozo-Rosich P, et al. P/Q type calcium-channel antibodies in paraneoplastic cerebellar degeneration with lung cancer. Neurology 2002;59:764-6.
-
(2002)
Neurology
, vol.59
, pp. 764-766
-
-
Graus, F.1
Lang, B.2
Pozo-Rosich, P.3
-
71
-
-
0141870049
-
Voltage-gated potassium channel antibodies in limbic encephalitis
-
Pozo-Rosich P, Clover L, Saiz A, et al. Voltage-gated potassium channel antibodies in limbic encephalitis. Ann Neurol 2003;54:530-3.
-
(2003)
Ann Neurol
, vol.54
, pp. 530-533
-
-
Pozo-Rosich, P.1
Clover, L.2
Saiz, A.3
-
72
-
-
0035211405
-
Morvan's syndrome: Peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels
-
Liguori R, Vincent A, Clover L, et al. Morvan's syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels. Brain 2001;124:2417-26.
-
(2001)
Brain
, vol.124
, pp. 2417-2426
-
-
Liguori, R.1
Vincent, A.2
Clover, L.3
-
73
-
-
0014072938
-
Therapy of myotonia. A double-blind evaluation of diphenylhydantoin, procainamide, and placebo
-
Munsat TL. Therapy of myotonia. A double-blind evaluation of diphenylhydantoin, procainamide, and placebo. Neurology 1967;17:359-67.
-
(1967)
Neurology
, vol.17
, pp. 359-367
-
-
Munsat, T.L.1
-
74
-
-
0020554791
-
Intravenous treatment of hypokalemic periodic paralysis
-
Griggs RC, Resnick J, Engel WK. Intravenous treatment of hypokalemic periodic paralysis. Arch Neurol 1983;40:539-40.
-
(1983)
Arch Neurol
, vol.40
, pp. 539-540
-
-
Griggs, R.C.1
Resnick, J.2
Engel, W.K.3
-
75
-
-
0019488472
-
Cute effects of acetazolamide in hyperkalemic periodic paralysis
-
Riggs JE, Griggs RG, Moxley RT 3rd, et al. cute effects of acetazolamide in hyperkalemic periodic paralysis. Neurology 1981;31:725-9.
-
(1981)
Neurology
, vol.31
, pp. 725-729
-
-
Riggs, J.E.1
Griggs, R.G.2
Moxley III, R.T.3
-
76
-
-
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
-
77
-
-
0014818105
-
Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness
-
Griggs RC, Engel WK, Resnick JS. Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness. Ann Intern Med 1970;73:39-48.
-
(1970)
Ann Intern Med
, vol.73
, pp. 39-48
-
-
Griggs, R.C.1
Engel, W.K.2
Resnick, J.S.3
-
78
-
-
0033797135
-
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
-
Eunson LH, Rea R, Zuberi SM, et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000;48:647-56.
-
(2000)
Ann Neurol
, vol.48
, pp. 647-656
-
-
Eunson, L.H.1
Rea, R.2
Zuberi, S.M.3
|