-
1
-
-
0034671216
-
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro
-
Alekov A., Rahman M.M., Mitrovic N., Lehmann-Horn F., Lerche H. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J. Physiol. 529:2000;53353-53359.
-
(2000)
J. Physiol.
, vol.529
, pp. 53353-53359
-
-
Alekov, A.1
Rahman, M.M.2
Mitrovic, N.3
Lehmann-Horn, F.4
Lerche, H.5
-
2
-
-
0034954467
-
Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man
-
Alekov A.K., Rahman M.M., Mitrovic N., Lehmann-Horn F., Lerche H. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur. J. Neurosci. 13:2001;2171-2176.
-
(2001)
Eur. J. Neurosci.
, vol.13
, pp. 2171-2176
-
-
Alekov, A.K.1
Rahman, M.M.2
Mitrovic, N.3
Lehmann-Horn, F.4
Lerche, H.5
-
3
-
-
0024965794
-
+-dependent theta-like rhythmicity in stellate cells of entorhinal cortex layer II
-
+-dependent theta-like rhythmicity in stellate cells of entorhinal cortex layer II. Nature. 342:1989;175-177.
-
(1989)
Nature
, vol.342
, pp. 175-177
-
-
Alonso, A.1
Llinás, R.R.2
-
4
-
-
0024058061
-
+ channel alpha subunit with novel gating properties
-
+ channel alpha subunit with novel gating properties. Neuron. 1:1988;449-461.
-
(1988)
Neuron
, vol.1
, pp. 449-461
-
-
Auld, V.J.1
Goldin, A.L.2
Krafte, D.S.3
Marshall, J.4
Dunn, J.M.5
Catterall, W.A.6
Lester, H.A.7
Davidson, N.8
Dunn, R.J.9
-
5
-
-
0035030766
-
A receptor dysfunction in epilepsy: A mutation in the gamma 2-subunit gene
-
A receptor dysfunction in epilepsy: a mutation in the gamma 2-subunit gene. Nat. Genet. 28:2001;46-48.
-
(2001)
Nat. Genet.
, vol.28
, pp. 46-48
-
-
Baulac, S.1
Huberfeld, G.2
Gourfinkel-An, I.3
Mitropoulou, G.4
Beranger, A.5
Prud'homme, J.F.6
Baulac, M.7
Brice, A.8
Bruzzone, R.9
LeGuern, E.10
-
6
-
-
0029097799
-
Molecular mechanism for an inherited cardiac arrhythmia
-
Bennett P.B., Yazawa K., Makita N., George A.L. Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 376:1995;683-685.
-
(1995)
Nature
, vol.376
, pp. 683-685
-
-
Bennett, P.B.1
Yazawa, K.2
Makita, N.3
George A.L., Jr.4
-
7
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., Steinlein O.K. A potassium channel mutation in neonatal human epilepsy. Science. 279:1998;403-406.
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Biervert, C.1
Schroeder, B.C.2
Kubisch, C.3
Berkovic, S.F.4
Propping, P.5
Jentsch, T.J.6
Steinlein, O.K.7
-
8
-
-
0027409755
-
Functional expression of sodium channel mutations identified in families with periodic paralysis
-
Cannon S.C., Strittmatter S.M. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron. 10:1993;317-326.
-
(1993)
Neuron
, vol.10
, pp. 317-326
-
-
Cannon, S.C.1
Strittmatter, S.M.2
-
9
-
-
0028326016
-
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation
-
Chahine M., George A.L., Zhou M., Ji S., Sun W., Barchi R.L., Horne R. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron. 12:1994;281-294.
-
(1994)
Neuron
, vol.12
, pp. 281-294
-
-
Chahine, M.1
George, A.L.2
Zhou, M.3
Ji, S.4
Sun, W.5
Barchi, R.L.6
Horne, R.7
-
10
-
-
0031974209
-
A pore mutation in a novel KGT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., Leppert M. A pore mutation in a novel KGT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 18:1998;53-55.
-
(1998)
Nat. Genet.
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
Lewis, T.B.4
Reus, B.E.5
Leach, R.J.6
Leppert, M.7
-
11
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1 cause severe myoclonic epilepsy of infancy
-
Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. De novo mutations in the sodium-channel gene SCN1 cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68:2001;1327-1332.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
12
-
-
0030873774
-
+ channels underlies the activity-dependent attenuation of dendritic action potentials in hippocampal CA1 pyramidal neurons
-
+ channels underlies the activity-dependent attenuation of dendritic action potentials in hippocampal CA1 pyramidal neurons. J. Neurosci. 17:1997;6512-6521.
-
(1997)
J. Neurosci.
, vol.17
, pp. 6512-6521
-
-
Colbert, C.M.1
Magee, J.C.2
Hoffman, D.A.3
Johnston, D.4
-
13
-
-
18544364797
-
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
-
Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.M., Carmant L., Verner A., Lu W.Y., Wang Y.T., Rouleau G.A. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31:2002;184-189.
-
(2002)
Nat. Genet.
, vol.31
, pp. 184-189
-
-
Cossette, P.1
Liu, L.2
Brisebois, K.3
Dong, H.4
Lortie, A.5
Vanasse, M.6
Saint-Hilaire, J.M.7
Carmant, L.8
Verner, A.9
Lu, W.Y.10
Wang, Y.T.11
Rouleau, G.A.12
-
14
-
-
0033763090
-
The nicotinic receptor 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco M., Becchetti A., Patrignani A., Annesi G., Gambardella A., Quattrone A., Ballabio A., Wanke E., Casari G. The nicotinic receptor 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat. Genet. 26:2000;275-276.
-
(2000)
Nat. Genet.
, vol.26
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
Annesi, G.4
Gambardella, A.5
Quattrone, A.6
Ballabio, A.7
Wanke, E.8
Casari, G.9
-
15
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24:2000;343-345.
-
(2000)
Nat. Genet.
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
Baulac, S.4
Huberfeld, G.5
An-Gourfinkel, I.6
Brice, A.7
LeGuern, E.8
Moulard, B.9
Chaigne, D.10
Buresi, C.11
Malafosse, A.12
-
16
-
-
0029932257
-
Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries
-
Gingrich J.C., Boehrer D.M., Garnes J.A., Johnson W., Wong B.S., Bergmann A., Eveleth G.G., Langlois R.G., Carrano A.V. Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries. Genomics. 32:1996;65-74.
-
(1996)
Genomics
, vol.32
, pp. 65-74
-
-
Gingrich, J.C.1
Boehrer, D.M.2
Garnes, J.A.3
Johnson, W.4
Wong, B.S.5
Bergmann, A.6
Eveleth, G.G.7
Langlois, R.G.8
Carrano, A.V.9
-
17
-
-
0033636506
-
Nomenclature of voltage-gated sodium channels
-
Goldin A.L., Barchi R.L., Caldwell J.H., Hofmann F., Howe J.R., Hunter J.C., Kallen R.G., Mandel G., Meisler M.H., Netter Y.B., Noda M., Tamkun M.M., Waxman S.G., Wood J.N., Catterall W.A. Nomenclature of voltage-gated sodium channels. Neuron. 28:2000;365-368.
-
(2000)
Neuron
, vol.28
, pp. 365-368
-
-
Goldin, A.L.1
Barchi, R.L.2
Caldwell, J.H.3
Hofmann, F.4
Howe, J.R.5
Hunter, J.C.6
Kallen, R.G.7
Mandel, G.8
Meisler, M.H.9
Netter, Y.B.10
Noda, M.11
Tamkun, M.M.12
Waxman, S.G.13
Wood, J.N.14
Catterall, W.A.15
-
18
-
-
0019441262
-
Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
-
Hamill O.P., Marty A., Neher E., Sakmann B., Sigworth F.J. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch. 391:1981;85-100.
-
(1981)
Pflugers Arch.
, vol.391
, pp. 85-100
-
-
Hamill, O.P.1
Marty, A.2
Neher, E.3
Sakmann, B.4
Sigworth, F.J.5
-
19
-
-
0030848004
-
Prolonged sodium channel inactivation contributes to dendritic action potential attenuation in hippocampal pyramidal neurons
-
Jung H.Y., Mickus T., Spruston N. Prolonged sodium channel inactivation contributes to dendritic action potential attenuation in hippocampal pyramidal neurons. J. Neurosci. 17:1997;6639-6646.
-
(1997)
J. Neurosci.
, vol.17
, pp. 6639-6646
-
-
Jung, H.Y.1
Mickus, T.2
Spruston, N.3
-
20
-
-
0033978892
-
Cloning localization and functional expression of sodium channel β1A subunits
-
Kazen-Gillespie K.A., Ragsdale D.S., D'Andrea M.R., Mattei L.N., Rogers K.E., Isom L.L. Cloning localization and functional expression of sodium channel β1A subunits. J. Biol. Chem. 275:2000;1079-1088.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 1079-1088
-
-
Kazen-Gillespie, K.A.1
Ragsdale, D.S.2
D'Andrea, M.R.3
Mattei, L.N.4
Rogers, K.E.5
Isom, L.L.6
-
21
-
-
0033912108
-
A new locus for idiopathic generalized epilepsy maps to chromosome 2
-
Lopes-Cendes I., Scheffer I.E., Berkovic S.F., Rousseau M., Andermann E., Rouleau G.A. A new locus for idiopathic generalized epilepsy maps to chromosome 2. Am. J. Hum. Genet. 66:2000;698-701.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 698-701
-
-
Lopes-Cendes, I.1
Scheffer, I.E.2
Berkovic, S.F.3
Rousseau, M.4
Andermann, E.5
Rouleau, G.A.6
-
22
-
-
0037071896
-
Molecular basis of an inherited epilepsy
-
Lossin C., Dao W.W., Rhodes T.H., Vanoye C.G., George A.L. Molecular basis of an inherited epilepsy. Neuron. 34:2002;877-884.
-
(2002)
Neuron
, vol.34
, pp. 877-884
-
-
Lossin, C.1
Dao, W.W.2
Rhodes, T.H.3
Vanoye, C.G.4
George, A.L.5
-
23
-
-
0037063705
-
Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary b1, b2 and b3 subunits
-
Meadows L.S., Chen Y.H., Powell A.J., Clare J.J., Ragsdale D.S. Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary b1, b2 and b3 subunits. Neuroscience. 114:2002;745-753.
-
(2002)
Neuroscience
, vol.114
, pp. 745-753
-
-
Meadows, L.S.1
Chen, Y.H.2
Powell, A.J.3
Clare, J.J.4
Ragsdale, D.S.5
-
24
-
-
0037115031
-
Functional and biochemical analysis of a sodium channel β1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
-
Meadows L.S., Malhotra J., Loukas A., Thyagarajan V., Kazen-Gillepsie K.A., Koopman M.C., Kriegler S., Isom L.L., Ragsdale D.S. Functional and biochemical analysis of a sodium channel β1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J. Neurosci. 22:2002;10699-10709.
-
(2002)
J. Neurosci.
, vol.22
, pp. 10699-10709
-
-
Meadows, L.S.1
Malhotra, J.2
Loukas, A.3
Thyagarajan, V.4
Kazen-Gillepsie, K.A.5
Koopman, M.C.6
Kriegler, S.7
Isom, L.L.8
Ragsdale, D.S.9
-
25
-
-
0028179659
-
Cellular and molecular basis of epilepsy
-
McNamara J.O. Cellular and molecular basis of epilepsy. J. Neurosci. 14:1994;3413-3425.
-
(1994)
J. Neurosci.
, vol.14
, pp. 3413-3425
-
-
McNamara, J.O.1
-
26
-
-
0022653969
-
Existence of distinct sodium channel messenger RNAs in rat brain
-
Noda M., Ikeda T., Kayano T., Suzuki H., Takeshima H., Kurasaki M., Takahashi H., Numa S. Existence of distinct sodium channel messenger RNAs in rat brain. Nature. 320:1986;188-192.
-
(1986)
Nature
, vol.320
, pp. 188-192
-
-
Noda, M.1
Ikeda, T.2
Kayano, T.3
Suzuki, H.4
Takeshima, H.5
Kurasaki, M.6
Takahashi, H.7
Numa, S.8
-
27
-
-
0018196425
-
Slow inactivation of the sodium conductance in squid giant axons. Pronase resistance
-
Rudy B. Slow inactivation of the sodium conductance in squid giant axons. Pronase resistance. J. Physiol. 283:1978;1-21.
-
(1978)
J. Physiol.
, vol.283
, pp. 1-21
-
-
Rudy, B.1
-
28
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18:1998;25-29.
-
(1998)
Nat. Genet.
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
DuPont, B.R.4
Leach, R.J.5
Melis, R.6
Ronen, G.M.7
Bjerre, I.8
Quattlebaum, T.9
Murphy, J.V.10
McHarg, M.L.11
Gagnon, D.12
Rosales, T.O.13
Peiffer, A.14
Anderson, V.E.15
Leppert, M.16
-
29
-
-
0031915544
-
Functional analysis of the rat I sodium channel in Xenopus oocytes
-
Smith R.D., Goldin A.L. Functional analysis of the rat I sodium channel in Xenopus oocytes. J. Neurosci. 18:1998;811-820.
-
(1998)
J. Neurosci.
, vol.18
, pp. 811-820
-
-
Smith, R.D.1
Goldin, A.L.2
-
30
-
-
0035478007
-
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
-
Spampanato J., Escayg A., Meisler M.H., Goldin A.L. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J. Neurosci. 21:2001;7481-7490.
-
(2001)
J. Neurosci.
, vol.21
, pp. 7481-7490
-
-
Spampanato, J.1
Escayg, A.2
Meisler, M.H.3
Goldin, A.L.4
-
31
-
-
0035964102
-
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
-
Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. 57:2001a;703-705.
-
(2001)
Neurology
, vol.57
, pp. 703-705
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Ito, M.3
Nagafuji, H.4
Fukuma, G.5
Mitsudome, A.6
Wada, K.7
Kaneko, S.8
Hirose, S.9
Yamakawa, K.10
-
32
-
-
14344277590
-
+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
-
+ 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. 98:2001b;6384-6389.
-
(2001)
Proc. Natl. Acad. Sci. U.S.A.
, vol.98
, pp. 6384-6389
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Agarwala, K.L.3
Ito, M.4
Fukuma, G.5
Mazaki-Miyazaki, E.6
Nagafuji, H.7
Noda, M.8
Imoto, K.9
Wada, K.10
Mitsudome, A.11
Kaneko, S.12
Montal, M.13
Nagata, K.14
Hirose, S.15
Yamakawa, K.16
-
33
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., Scheffer I.E., Berkovic S.F. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11:1995;201-203.
-
(1995)
Nat. Genet.
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
Wallace, R.H.4
Phillips, H.A.5
Sutherland, G.R.6
Scheffer, I.E.7
Berkovic, S.F.8
-
34
-
-
0028867739
-
Amplification of EPSPs by axosomatic sodium channels in neocortical pyramidal neurons
-
Stuart G., Sakmann B. Amplification of EPSPs by axosomatic sodium channels in neocortical pyramidal neurons. Neuron. 15:1995;1065-1076.
-
(1995)
Neuron
, vol.15
, pp. 1065-1076
-
-
Stuart, G.1
Sakmann, B.2
-
35
-
-
0035155356
-
Dendritic coincidence detection of EPSPs and action potentials
-
Stuart G.J., Hausser M. Dendritic coincidence detection of EPSPs and action potentials. Nat. Neurosci. 4:2001;63-71.
-
(2001)
Nat. Neurosci.
, vol.4
, pp. 63-71
-
-
Stuart, G.J.1
Hausser, M.2
-
36
-
-
17344367657
-
+-channel beta1 subunit gene SCN1B
-
+-channel beta1 subunit gene SCN1B. Nat. Genet. 19:1998;366-370.
-
(1998)
Nat. Genet.
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George A.L., Jr.5
Phillips, H.A.6
Saar, K.7
Reis, A.8
Johnson, E.W.9
Sutherland, G.R.10
Berkovic, S.F.11
Mulley, J.C.12
|