-
2
-
-
0032823307
-
Voltage-gated ion channels and hereditary disease
-
Lehman-Horn F, Jurkat-Rott K. 1999. Voltage-gated ion channels and hereditary disease. Physiol. Rev. 79:1317-72
-
(1999)
Physiol. Rev.
, vol.79
, pp. 1317-1372
-
-
Lehman-Horn, F.1
Jurkat-Rott, K.2
-
3
-
-
58149326824
-
Inherited neuronal ion channelopathies: New windows on complex neurological diseases
-
Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. 2008. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J. Neurosci. 28:11768-77
-
(2008)
J. Neurosci.
, vol.28
, pp. 11768-11777
-
-
Catterall, W.A.1
Dib-Hajj, S.2
Meisler, M.H.3
Pietrobon, D.4
-
4
-
-
0005769753
-
Covalent labeling of protein components of the sodium channel with a photoactivable derivative of scorpion toxin
-
Beneski DA, Catterall WA. 1980. Covalent labeling of protein components of the sodium channel with a photoactivable derivative of scorpion toxin. Proc. Natl. Acad. Sci. USA 77:639-43
-
(1980)
Proc. Natl. Acad. Sci. USA
, vol.77
, pp. 639-643
-
-
Beneski, D.A.1
Catterall, W.A.2
-
5
-
-
0012616825
-
Purification of the saxitoxin receptor of the sodium channel from rat brain
-
Hartshorne RP, Catterall WA. 1981. Purification of the saxitoxin receptor of the sodium channel from rat brain. Proc. Natl. Acad. Sci. USA 78:4620-24
-
(1981)
Proc. Natl. Acad. Sci. USA
, vol.78
, pp. 4620-4624
-
-
Hartshorne, R.P.1
Catterall, W.A.2
-
6
-
-
0020464124
-
The saxitoxin receptor of the sodium channel from rat brain: Evidence for two nonidentical βsubunits
-
Hartshorne RP, Messner DJ, Coppersmith JC, Catterall WA. 1982. The saxitoxin receptor of the sodium channel from rat brain: evidence for two nonidentical βsubunits. J. Biol. Chem. 257:13888-91
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 13888-13891
-
-
Hartshorne, R.P.1
Messner, D.J.2
Coppersmith, J.C.3
Catterall, W.A.4
-
7
-
-
0021360647
-
The sodium channel from rat brain. Purification and subunit composition
-
Hartshorne RP, Catterall WA. 1984. The sodium channel from rat brain. Purification and subunit composition. J. Biol. Chem. 259:1667-75
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 1667-1675
-
-
Hartshorne, R.P.1
Catterall, W.A.2
-
8
-
-
0020353060
-
Reconstitution of neurotoxin-stimulated sodium transport by the voltage-sensitive sodium channel purified from rat brain
-
Talvenheimo JA, Tamkun MM, Catterall WA. 1982. Reconstitution of neurotoxin-stimulated sodium transport by the voltage-sensitive sodium channel purified from rat brain. J. Biol. Chem. 257:11868-71
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 11868-11871
-
-
Talvenheimo, J.A.1
Tamkun, M.M.2
Catterall, W.A.3
-
9
-
-
0021329353
-
The sodium channel from rat brain: Reconstitution of neurotoxin-activated ion flux and scorpion toxin binding from purified components
-
Tamkun MM, Talvenheimo JA, Catterall WA. 1984. The sodium channel from rat brain: reconstitution of neurotoxin-activated ion flux and scorpion toxin binding from purified components. J. Biol. Chem. 259:1676-88
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 1676-1688
-
-
Tamkun, M.M.1
Talvenheimo, J.A.2
Catterall, W.A.3
-
10
-
-
0022004133
-
Functional reconstitution of the purified brain sodium channel in planar lipid bilayers
-
Hartshorne RP, Keller BU, Talvenheimo JA, Catterall WA, Montal M. 1985. Functional reconstitution of the purified brain sodium channel in planar lipid bilayers. Proc. Natl. Acad. Sci. USA 82:240-44
-
(1985)
Proc. Natl. Acad. Sci. USA
, vol.82
, pp. 240-244
-
-
Hartshorne, R.P.1
Keller, B.U.2
Talvenheimo, J.A.3
Catterall, W.A.4
Montal, M.5
-
11
-
-
0018855523
-
Identification of a large molecular weight peptide associated with a tetrodotoxin binding protein from the electroplax of Electrophorus electricus
-
Agnew WS, Moore AC, Levinson SR, Raftery MA. 1980. Identification of a large molecular weight peptide associated with a tetrodotoxin binding protein from the electroplax of Electrophorus electricus. Biochem. Biophys. Res. Commun. 92:860-66
-
(1980)
Biochem. Biophys. Res. Commun.
, vol.92
, pp. 860-866
-
-
Agnew, W.S.1
Moore, A.C.2
Levinson, S.R.3
Raftery, M.A.4
-
12
-
-
0020568979
-
Protein components of the purified sodium channel from rat skeletal sarcolemma
-
Barchi RL. 1983. Protein components of the purified sodium channel from rat skeletal sarcolemma. J. Neurochem. 36:1377-85
-
(1983)
J. Neurochem.
, vol.36
, pp. 1377-1385
-
-
Barchi, R.L.1
-
13
-
-
0021123234
-
Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence
-
Noda M, Shimizu S, Tanabe T, Takai T, Kayano T, et al. 1984. Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence. Nature 312:121-27
-
(1984)
Nature
, vol.312
, pp. 121-127
-
-
Noda, M.1
Shimizu, S.2
Tanabe, T.3
Takai, T.4
Kayano, T.5
-
14
-
-
0022499391
-
Expression of functional sodium channels from cloned cDNA
-
Noda M, Ikeda T, Suzuki T, Takeshima H, Takahashi T, et al. 1986. Expression of functional sodium channels from cloned cDNA. Nature 322:826-28
-
(1986)
Nature
, vol.322
, pp. 826-828
-
-
Noda, M.1
Ikeda, T.2
Suzuki, T.3
Takeshima, H.4
Takahashi, T.5
-
15
-
-
0022442442
-
Messenger RNA coding for only the α subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes
-
Goldin AL, Snutch T, Lubbert H, Dowsett A, Marshall J, et al. 1986. Messenger RNA coding for only the α subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes. Proc. Natl. Acad. Sci. USA 83:7503-7
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.83
, pp. 7503-7507
-
-
Goldin, A.L.1
Snutch, T.2
Lubbert, H.3
Dowsett, A.4
Marshall, J.5
-
16
-
-
0026551357
-
Primary structure and functional expression of the β1 subunit of the rat brain sodium channel
-
Isom LL, De Jongh KS, Patton DE, Reber BFX, Offord J, et al. 1992. Primary structure and functional expression of the β1 subunit of the rat brain sodium channel. Science 256:839-42
-
(1992)
Science
, vol.256
, pp. 839-842
-
-
Isom, L.L.1
De Jongh, K.S.2
Patton, D.E.3
Reber, B.F.X.4
Offord, J.5
-
17
-
-
0028972374
-
Structure and function of the β2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif
-
Isom LL, Ragsdale DS, De Jongh KS, Westenbroek RE, Reber BFX, et al. 1995. Structure and function of the β2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif. Cell 83:433-42
-
(1995)
Cell
, vol.83
, pp. 433-442
-
-
Isom, L.L.1
Ragsdale, D.S.2
De Jongh, K.S.3
Westenbroek, R.E.4
Reber, B.F.X.5
-
18
-
-
0033694833
-
From ionic currents tomolecular mechanisms: The structure and function of voltagegated sodium channels
-
Catterall WA. 2000. From ionic currents tomolecular mechanisms: the structure and function of voltagegated sodium channels. Neuron 26:13-25
-
(2000)
Neuron
, vol.26
, pp. 13-25
-
-
Catterall, W.A.1
-
19
-
-
84857211318
-
+ channel β subunits: Overachievers of the ion channel family
-
+ channel β subunits: overachievers of the ion channel family. Front. Pharmacol. 2:53
-
(2011)
Front. Pharmacol.
, vol.2
, pp. 53
-
-
Brackenbury, W.J.1
Isom, L.L.2
-
20
-
-
0035050571
-
Resurgence of sodium channel research
-
Goldin AL. 2001. Resurgence of sodium channel research. Annu. Rev. Physiol. 63:871-94
-
(2001)
Annu. Rev. Physiol.
, vol.63
, pp. 871-894
-
-
Goldin, A.L.1
-
22
-
-
0041419702
-
Sodium channel β4, a new disulfide-linked auxiliary subunit with similarity to β2
-
Yu FH, Westenbroek RE, Silos-Santiago I, McCormick KA, Lawson D, et al. 2003. Sodium channel β4, a new disulfide-linked auxiliary subunit with similarity to β2. J. Neurosci. 23:7577-85
-
(2003)
J. Neurosci.
, vol.23
, pp. 7577-7585
-
-
Yu, F.H.1
Westenbroek, R.E.2
Silos-Santiago, I.3
McCormick, K.A.4
Lawson, D.5
-
23
-
-
12944260700
-
β3: An additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics
-
Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, et al. 2000. β3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics. Proc. Natl. Acad. Sci. USA 97:2308-13
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 2308-2313
-
-
Morgan, K.1
Stevens, E.B.2
Shah, B.3
Cox, P.J.4
Dixon, A.K.5
-
24
-
-
0035861457
-
A prokaryotic voltage-gated sodium channel
-
Ren D, Navarro B, Xu H, Yue L, Shi Q, Clapham DE. 2001. A prokaryotic voltage-gated sodium channel. Science 294:2372-75
-
(2001)
Science
, vol.294
, pp. 2372-2375
-
-
Ren, D.1
Navarro, B.2
Xu, H.3
Yue, L.4
Shi, Q.5
Clapham, D.E.6
-
25
-
-
1542364444
-
A superfamily of voltage-gated sodium channels in bacteria
-
Koishi R, Xu H, Ren D, Navarro B, Spiller BW, et al. 2004. A superfamily of voltage-gated sodium channels in bacteria. J. Biol. Chem. 279:9532-38
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 9532-9538
-
-
Koishi, R.1
Xu, H.2
Ren, D.3
Navarro, B.4
Spiller, B.W.5
-
26
-
-
79960621367
-
The crystal structure of a voltage-gated sodium channel
-
Payandeh J, Scheuer T, Zheng N, Catterall WA. 2011. The crystal structure of a voltage-gated sodium channel. Nature 475:353-58
-
(2011)
Nature
, vol.475
, pp. 353-358
-
-
Payandeh, J.1
Scheuer, T.2
Zheng, N.3
Catterall, W.A.4
-
28
-
-
0024811092
-
A single point mutation confers tetrodotoxin and saxitoxin insensitivity on the sodium channel II
-
Noda M, Suzuki H, Numa S, Stühmer W. 1989. A single point mutation confers tetrodotoxin and saxitoxin insensitivity on the sodium channel II. FEBS Lett. 259:213-16
-
(1989)
FEBS Lett.
, vol.259
, pp. 213-216
-
-
Noda, M.1
Suzuki, H.2
Numa, S.3
Stühmer, W.4
-
29
-
-
0026072218
-
Mapping the site of block by tetrodotoxin and saxitoxin of sodium channel II
-
Terlau H, Heinemann SH, Stühmer W, Pusch M, Conti F, et al. 1991. Mapping the site of block by tetrodotoxin and saxitoxin of sodium channel II. FEBS Lett. 293:93-96
-
(1991)
FEBS Lett.
, vol.293
, pp. 93-96
-
-
Terlau, H.1
Heinemann, S.H.2
Stühmer, W.3
Pusch, M.4
Conti, F.5
-
30
-
-
0026517122
-
Calcium channel characteristics conferred on the sodium channel by single mutations
-
Heinemann SH, Terlau H, Stühmer W, Imoto K, Numa S. 1992. Calcium channel characteristics conferred on the sodium channel by single mutations. Nature 356:441-43
-
(1992)
Nature
, vol.356
, pp. 441-443
-
-
Heinemann, S.H.1
Terlau, H.2
Stühmer, W.3
Imoto, K.4
Numa, S.5
-
31
-
-
35649001607
-
A quantitative description of membrane current and its application to conduction and excitation in nerve
-
Hodgkin AL, Huxley AF. 1952. A quantitative description of membrane current and its application to conduction and excitation in nerve. J. Physiol. 117:500-44
-
(1952)
J. Physiol.
, vol.117
, pp. 500-544
-
-
Hodgkin, A.L.1
Huxley, A.F.2
-
32
-
-
0015868742
-
Currents related to movement of the gating particles of the sodium channels
-
Armstrong CM, Bezanilla F. 1973. Currents related to movement of the gating particles of the sodium channels. Nature 242:459-61
-
(1973)
Nature
, vol.242
, pp. 459-461
-
-
Armstrong, C.M.1
Bezanilla, F.2
-
33
-
-
0022658001
-
Voltage-dependent gating of sodium channels: Correlating structure and function
-
Catterall WA. 1986. Voltage-dependent gating of sodium channels: correlating structure and function. Trends Neurosci. 9:7-10
-
(1986)
Trends Neurosci.
, vol.9
, pp. 7-10
-
-
Catterall, W.A.1
-
34
-
-
0022555877
-
Molecular properties of voltage-sensitive sodium channels
-
Catterall WA. 1986. Molecular properties of voltage-sensitive sodium channels. Annu. Rev. Biochem. 55:953-85
-
(1986)
Annu. Rev. Biochem.
, vol.55
, pp. 953-985
-
-
Catterall, W.A.1
-
36
-
-
0000882125
-
Molecular model of the action potential sodium channel
-
Guy HR, Seetharamulu P. 1986. Molecular model of the action potential sodium channel. Proc. Natl. Acad. Sci. USA 508:508-12
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.508
, pp. 508-512
-
-
Guy, H.R.1
Seetharamulu, P.2
-
37
-
-
84855998904
-
Structural basis for gating charge movement in the voltage sensor of a sodium channel
-
Yarov-Yarovoy V, Decaen PG, Westenbroek RE, Pan CY, Scheuer T, et al. 2012. Structural basis for gating charge movement in the voltage sensor of a sodium channel. Proc. Natl. Acad. Sci. USA 109:E93-102
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
-
-
Yarov-Yarovoy, V.1
Decaen, P.G.2
Westenbroek, R.E.3
Pan, C.Y.4
Scheuer, T.5
-
38
-
-
77956996917
-
Ion channel voltage sensors: Structure, function, and pathophysiology
-
Catterall WA. 2010. Ion channel voltage sensors: structure, function, and pathophysiology. Neuron 67:915-28
-
(2010)
Neuron
, vol.67
, pp. 915-928
-
-
Catterall, W.A.1
-
39
-
-
84871004046
-
An emerging consensus on voltage-dependent gating from computational modeling and molecular dynamics simulations
-
Vargas E, Yarov-Yarovoy V, Khalili-Araghi F, Catterall WA, Klein ML, et al. 2012. An emerging consensus on voltage-dependent gating from computational modeling and molecular dynamics simulations. J. Gen. Physiol. 140:587-94
-
(2012)
J. Gen. Physiol.
, vol.140
, pp. 587-594
-
-
Vargas, E.1
Yarov-Yarovoy, V.2
Khalili-Araghi, F.3
Catterall, W.A.4
Klein, M.L.5
-
40
-
-
77956677051
-
The dual effect of membrane potential on sodium conductance in the giant axon of Loligo
-
Hodgkin AL, Huxley AF. 1952. The dual effect of membrane potential on sodium conductance in the giant axon of Loligo. J. Physiol. 116:497-506
-
(1952)
J. Physiol.
, vol.116
, pp. 497-506
-
-
Hodgkin, A.L.1
Huxley, A.F.2
-
41
-
-
0023784649
-
Identification of an intracellular peptide segment involved in sodium channel inactivation
-
Vassilev PM, Scheuer T, Catterall WA. 1988. Identification of an intracellular peptide segment involved in sodium channel inactivation. Science 241:1658-61
-
(1988)
Science
, vol.241
, pp. 1658-1661
-
-
Vassilev, P.M.1
Scheuer, T.2
Catterall, W.A.3
-
42
-
-
0024368695
-
Structural parts involved in activation and inactivation of the sodium channel
-
Stühmer W, Conti F, Suzuki H, Wang X, Noda M, et al. 1989. Structural parts involved in activation and inactivation of the sodium channel. Nature 339:597-603
-
(1989)
Nature
, vol.339
, pp. 597-603
-
-
Stühmer, W.1
Conti, F.2
Suzuki, H.3
Wang, X.4
Noda, M.5
-
44
-
-
0028363484
-
Restoration of inactivation and block of open sodium channels by an inactivation gate peptide
-
Eaholtz G, Scheuer T, Catterall WA. 1994. Restoration of inactivation and block of open sodium channels by an inactivation gate peptide. Neuron 12:1041-48
-
(1994)
Neuron
, vol.12
, pp. 1041-1048
-
-
Eaholtz, G.1
Scheuer, T.2
Catterall, W.A.3
-
45
-
-
0039552118
-
Solution structure of the sodium channel inactivation gate
-
Rohl CA, Boeckman FA, Baker C, Scheuer T, Catterall WA, Klevit RE. 1999. Solution structure of the sodium channel inactivation gate. Biochemistry 38:855-61
-
(1999)
Biochemistry
, vol.38
, pp. 855-861
-
-
Rohl, C.A.1
Boeckman, F.A.2
Baker, C.3
Scheuer, T.4
Catterall, W.A.5
Klevit, R.E.6
-
46
-
-
0027944683
-
Molecular determinants of state-dependent block of sodium channels by local anesthetics
-
Ragsdale DS, McPhee JC, Scheuer T, Catterall WA. 1994. Molecular determinants of state-dependent block of sodium channels by local anesthetics. Science 265:1724-28
-
(1994)
Science
, vol.265
, pp. 1724-1728
-
-
Ragsdale, D.S.1
McPhee, J.C.2
Scheuer, T.3
Catterall, W.A.4
-
51
-
-
0017332486
-
Local anesthetics: Hydrophilic and hydrophobic pathways for the drug-receptor reaction
-
Hille B. 1977. Local anesthetics: hydrophilic and hydrophobic pathways for the drug-receptor reaction. J. Gen. Physiol. 69:497-515
-
(1977)
J. Gen. Physiol.
, vol.69
, pp. 497-515
-
-
Hille, B.1
-
53
-
-
33845609691
-
Paroxysmal muscle weakness: The familial periodic paralyses
-
Jurkat-Rott K, Lehmann-Horn F. 2006. Paroxysmal muscle weakness: the familial periodic paralyses. J. Neurol. 253:1391-98
-
(2006)
J. Neurol.
, vol.253
, pp. 1391-1398
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
-
54
-
-
30344434616
-
The primary periodic paralyses: Diagnosis, pathogenesis and treatment
-
Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, et al. 2006. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 129:8-17
-
(2006)
Brain
, vol.129
, pp. 8-17
-
-
Venance, S.L.1
Cannon, S.C.2
Fialho, D.3
Fontaine, B.4
Hanna, M.G.5
-
55
-
-
0035936798
-
Molecular and cellular mechanisms of cardiac arrhythmias
-
Keating MT, Sanguinetti MC. 2001. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 104:569-80
-
(2001)
Cell
, vol.104
, pp. 569-580
-
-
Keating, M.T.1
Sanguinetti, M.C.2
-
57
-
-
33845901486
-
An SCN9A channelopathy causes congenital inability to experience pain
-
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, et al. 2006. An SCN9A channelopathy causes congenital inability to experience pain. Nature 444:894-98
-
(2006)
Nature
, vol.444
, pp. 894-898
-
-
Cox, J.J.1
Reimann, F.2
Nicholas, A.K.3
Thornton, G.4
Roberts, E.5
-
58
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, et al. 2000. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24:343-45
-
(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
-
60
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. 2001. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68:1327-32
-
(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
-
61
-
-
0036304363
-
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
-
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. 2002. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 295:17-23
-
(2002)
Biochem. Biophys. Res. Commun.
, vol.295
, pp. 17-23
-
-
Ohmori, I.1
Ouchida, M.2
Ohtsuka, Y.3
Oka, E.4
Shimizu, K.5
-
62
-
-
0344672944
-
Mutations of sodium channel αsubunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, et al. 2003. Mutations of sodium channel αsubunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126:531-46
-
(2003)
Brain
, vol.126
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Takahashi, Y.4
Fukushima, K.5
-
63
-
-
0038240713
-
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
-
Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, et al. 2003. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 21:615-21
-
(2003)
Hum. Mutat.
, vol.21
, pp. 615-621
-
-
Claes, L.1
Ceulemans, B.2
Audenaert, D.3
Smets, K.4
Lofgren, A.5
-
64
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, et al. 2002. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58:1122-24
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
-
65
-
-
10744227466
-
+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
-
+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 45:140-48
-
(2004)
Epilepsia
, vol.45
, pp. 140-148
-
-
Fukuma, G.1
Oguni, H.2
Shirasaka, Y.3
Watanabe, K.4
Miyajima, T.5
-
66
-
-
23644439941
-
Sodium channel mutations in epilepsy and other neurological disorders
-
Meisler MH, Kearney JA. 2005. Sodium channel mutations in epilepsy and other neurological disorders. J. Clin. Investig. 115:2010-17
-
(2005)
J. Clin. Investig.
, vol.115
, pp. 2010-2017
-
-
Meisler, M.H.1
Kearney, J.A.2
-
67
-
-
67649985908
-
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
-
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, et al. 2009. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 50:1670-78
-
(2009)
Epilepsia
, vol.50
, pp. 1670-1678
-
-
Marini, C.1
Scheffer, I.E.2
Nabbout, R.3
Mei, D.4
Cox, K.5
-
68
-
-
84871296521
-
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression
-
Thompson CH, Porter JC, Kahlig KM, Daniels MA, George AL Jr. 2012. Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. J. Biol. Chem. 287:42001-8
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 42001-42008
-
-
Thompson, C.H.1
Porter, J.C.2
Kahlig, K.M.3
Daniels, M.A.4
George Jr., A.L.5
-
69
-
-
69449089315
-
A functional null mutation of SCN1B in a patient with Dravet syndrome
-
Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, et al. 2009. A functional null mutation of SCN1B in a patient with Dravet syndrome. J. Neurosci. 29:10764-78
-
(2009)
J. Neurosci.
, vol.29
, pp. 10764-10778
-
-
Patino, G.A.1
Claes, L.R.2
Lopez-Santiago, L.F.3
Slat, E.A.4
Dondeti, R.S.5
-
70
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology
-
Engel J Jr. 2001. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42:796-803
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel Jr., J.1
-
71
-
-
0002227436
-
Severe myoclonic epilepsy in infants
-
ed. J Roger, C Dravet, M Bureau, FE Dreifus, A Perret, PWolf, London: John Libbey
-
Dravet C, Bureau M, Guerrini R, Giraud N, Roger J. 1992. Severe myoclonic epilepsy in infants. In Epileptic Syndromes in Infancy, Childhood and Adolescence, ed. J Roger, C Dravet, M Bureau, FE Dreifus, A Perret, PWolf, pp. 75-102. London: John Libbey
-
(1992)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 75-102
-
-
Dravet, C.1
Bureau, M.2
Guerrini, R.3
Giraud, N.4
Roger, J.5
-
72
-
-
0034778243
-
Severe myoclonic epilepsy in infants-A review based on the TokyoWomen's Medical University series of 84 cases
-
Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M. 2001. Severe myoclonic epilepsy in infants-a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev. 23:736-48
-
(2001)
Brain Dev.
, vol.23
, pp. 736-748
-
-
Oguni, H.1
Hayashi, K.2
Awaya, Y.3
Fukuyama, Y.4
Osawa, M.5
-
73
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, et al. 2006. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat. Neurosci. 9:1142-49
-
(2006)
Nat. Neurosci.
, vol.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
Robbins, C.A.4
Kalume, F.5
-
74
-
-
34249791771
-
NaV1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
-
Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, et al. 2007. NaV1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J. Neurosci. 27:5903-14
-
(2007)
J. Neurosci.
, vol.27
, pp. 5903-5914
-
-
Ogiwara, I.1
Miyamoto, H.2
Morita, N.3
Atapour, N.4
Mazaki, E.5
-
75
-
-
84871686984
-
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
-
Cheah CS, Yu FH, Westenbroek RE, Kalume FK, Oakley JC, et al. 2012. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proc. Natl. Acad. Sci. USA 109:14646-51
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
, pp. 14646-14651
-
-
Cheah, C.S.1
Yu, F.H.2
Westenbroek, R.E.3
Kalume, F.K.4
Oakley, J.C.5
-
76
-
-
16544389829
-
Severe myoclonic epilepsy in infancy: Dravet syndrome
-
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. 2005. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv. Neurol. 95:71-102
-
(2005)
Adv. Neurol.
, vol.95
, pp. 71-102
-
-
Dravet, C.1
Bureau, M.2
Oguni, H.3
Fukuyama, Y.4
Cokar, O.5
-
77
-
-
35348904490
-
Reduced sodium current in Purkinje neurons from NaV1.1 mutant mice: Implications for ataxia in severe myoclonic epilepsy in infancy
-
Kalume F, Yu FH, Westenbroek RE, Scheuer T, Catterall WA. 2007. Reduced sodium current in Purkinje neurons from NaV1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J. Neurosci. 27:11065-74
-
(2007)
J. Neurosci.
, vol.27
, pp. 11065-11074
-
-
Kalume, F.1
Yu, F.H.2
Westenbroek, R.E.3
Scheuer, T.4
Catterall, W.A.5
-
78
-
-
33747161353
-
Coping with Dravet syndrome: Parental experiences with a catastrophic epilepsy
-
Nolan KJ, Camfield CS, Camfield PR. 2006. Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy. Dev. Med. Child Neurol. 48:761-65
-
(2006)
Dev. Med. Child Neurol.
, vol.48
, pp. 761-765
-
-
Nolan, K.J.1
Camfield, C.S.2
Camfield, P.R.3
-
79
-
-
84879800583
-
Reduced excitability of GABAergic interneurons in the reticular nucleus of the thalamus and sleep impairment in a mouse model of Severe Myoclonic Epilepsy of Infancy
-
Kalume FK, Oakley JC, Westenbroek RE, Scheuer T, Catterall WA. 2010. Reduced excitability of GABAergic interneurons in the reticular nucleus of the thalamus and sleep impairment in a mouse model of Severe Myoclonic Epilepsy of Infancy. Soc. Neurosci. Abstr. 255:15/Q18
-
(2010)
Soc. Neurosci. Abstr.
, vol.255
-
-
Kalume, F.K.1
Oakley, J.C.2
Westenbroek, R.E.3
Scheuer, T.4
Catterall, W.A.5
-
80
-
-
84857133999
-
NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms
-
Han S, Yu FH, Schwartz MD, Linton JD, Bosma MM, et al. 2012. NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms. Proc. Natl. Acad. Sci. USA 109:E368-77
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
-
-
Han, S.1
Yu, F.H.2
Schwartz, M.D.3
Linton, J.D.4
Bosma, M.M.5
-
82
-
-
84875828570
-
Sudden unexpected death in a mouse model of Dravet syndrome
-
Kalume F, Westenbroek RE, Cheah CS, Oakley JC, Scheuer T, Catterall WA. 2013. Sudden unexpected death in a mouse model of Dravet syndrome. J. Clin. Investig. 123:1798-808
-
(2013)
J. Clin. Investig.
, vol.123
, pp. 1798-1808
-
-
Kalume, F.1
Westenbroek, R.E.2
Cheah, C.S.3
Oakley, J.C.4
Scheuer, T.5
Catterall, W.A.6
-
83
-
-
16544394846
-
Severemyoclonic epilepsy in infancy: Clinical analysis and relation to SCN1A mutations in a Japanese cohort
-
Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, et al. 2005. Severemyoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Adv. Neurol. 95:103-17
-
(2005)
Adv. Neurol.
, vol.95
, pp. 103-117
-
-
Oguni, H.1
Hayashi, K.2
Osawa, M.3
Awaya, Y.4
Fukuyama, Y.5
-
84
-
-
62649142705
-
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy
-
Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA. 2009. Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc. Natl. Acad. Sci. USA 106:3994-99
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 3994-3999
-
-
Oakley, J.C.1
Kalume, F.2
Yu, F.H.3
Scheuer, T.4
Catterall, W.A.5
-
85
-
-
0035478007
-
Functional effects of two voltage-gated sodium channelmutations that cause generalized epilepsywith febrile seizures plus type 2
-
Spampanato J, Escayg A, Meisler MH, Goldin AL. 2001. Functional effects of two voltage-gated sodium channelmutations that cause generalized epilepsywith febrile seizures plus type 2. J. Neurosci. 21:7481-90
-
(2001)
J. Neurosci.
, vol.21
, pp. 7481-7490
-
-
Spampanato, J.1
Escayg, A.2
Meisler, M.H.3
Goldin, A.L.4
-
86
-
-
0037071896
-
Molecular basis of an inherited epilepsy
-
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. 2002. Molecular basis of an inherited epilepsy. Neuron 34:877-84
-
(2002)
Neuron
, vol.34
, pp. 877-884
-
-
Lossin, C.1
Wang, D.W.2
Rhodes, T.H.3
Vanoye, C.G.4
George Jr., A.L.5
-
87
-
-
0347479237
-
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
-
Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, et al. 2003. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J. Neurosci. 23:11289-95
-
(2003)
J. Neurosci.
, vol.23
, pp. 11289-11295
-
-
Lossin, C.1
Rhodes, T.H.2
Desai, R.R.3
Vanoye, C.G.4
Wang, D.5
-
88
-
-
33751108977
-
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation
-
Kahlig KM, Misra SN, George AL Jr. 2006. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J. Neurosci. 26:10958-66
-
(2006)
J. Neurosci.
, vol.26
, pp. 10958-10966
-
-
Kahlig, K.M.1
Misra, S.N.2
George Jr., A.L.3
-
89
-
-
0346106074
-
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of NaV1.1 sodium channels
-
Spampanato J, Escayg A, Meisler MH, Goldin AL. 2003. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of NaV1.1 sodium channels. Neuroscience 116:37-48
-
(2003)
Neuroscience
, vol.116
, pp. 37-48
-
-
Spampanato, J.1
Escayg, A.2
Meisler, M.H.3
Goldin, A.L.4
-
90
-
-
20844446135
-
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction
-
Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, et al. 2004. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction. J. Neurosci. 24:10022-34
-
(2004)
J. Neurosci.
, vol.24
, pp. 10022-10034
-
-
Spampanato, J.1
Kearney, J.A.2
De Haan, G.3
McEwen, D.P.4
Escayg, A.5
-
91
-
-
33644823780
-
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability
-
Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, et al. 2006. An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J. Neurosci. 26:2714-23
-
(2006)
J. Neurosci.
, vol.26
, pp. 2714-2723
-
-
Barela, A.J.1
Waddy, S.P.2
Lickfett, J.G.3
Hunter, J.4
Anido, A.5
-
93
-
-
67649656143
-
A rescuable folding defective NaV1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in NaV1.1 related epilepsies?
-
Rusconi R, Combi R, Cestele S, Grioni D, Franceschetti S, et al. 2009. A rescuable folding defective NaV1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in NaV1.1 related epilepsies? Hum. Mutat. 30:E747-60
-
(2009)
Hum. Mutat.
, vol.30
-
-
Rusconi, R.1
Combi, R.2
Cestele, S.3
Grioni, D.4
Franceschetti, S.5
-
94
-
-
67349213198
-
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+)mutation
-
Tang B, Dutt K, Papale L, Rusconi R, Shankar A, et al. 2009. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+)mutation. Neurobiol. Dis. 35:91-102
-
(2009)
Neurobiol. Dis.
, vol.35
, pp. 91-102
-
-
Tang, B.1
Dutt, K.2
Papale, L.3
Rusconi, R.4
Shankar, A.5
-
95
-
-
77951248599
-
Altered function of the SCN1A voltage-gated sodium channel leads to γ-aminobutyric acid-ergic (GABAergic) interneuron abnormalities
-
Martin MS, Dutt K, Papale LA, Dube CM, Dutton SB, et al. 2010. Altered function of the SCN1A voltage-gated sodium channel leads to γ-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J. Biol. Chem. 285:9823-34
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 9823-9834
-
-
Martin, M.S.1
Dutt, K.2
Papale, L.A.3
Dube, C.M.4
Dutton, S.B.5
-
96
-
-
29144515651
-
Identification of anNaV1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
-
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, et al. 2005. Identification of anNaV1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc. Natl. Acad. Sci. USA 102:18177-82
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 18177-18182
-
-
Mantegazza, M.1
Gambardella, A.2
Rusconi, R.3
Schiavon, E.4
Annesi, F.5
-
97
-
-
33646506899
-
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: A retrospective study
-
Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, et al. 2006. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol. 5:488-92
-
(2006)
Lancet Neurol.
, vol.5
, pp. 488-492
-
-
Berkovic, S.F.1
Harkin, L.2
McMahon, J.M.3
Pelekanos, J.T.4
Zuberi, S.M.5
-
98
-
-
64049095461
-
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures
-
Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, et al. 2009. A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology 72:974-78
-
(2009)
Neurology
, vol.72
, pp. 974-978
-
-
Schlachter, K.1
Gruber-Sedlmayr, U.2
Stogmann, E.3
Lausecker, M.4
Hotzy, C.5
-
99
-
-
0026055009
-
Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs
-
Sarao R, Gupta SK, Auld VJ, Dunn RJ. 1991. Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. Nucleic Acids Res. 19:5673-79
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 5673-5679
-
-
Sarao, R.1
Gupta, S.K.2
Auld, V.J.3
Dunn, R.J.4
-
100
-
-
74449088183
-
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain
-
Gazina EV, Richards KL, Mokhtar MB, Thomas EA, Reid CA, Petrou S. 2009. Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. Neuroscience 166:195-200
-
(2009)
Neuroscience
, vol.166
, pp. 195-200
-
-
Gazina, E.V.1
Richards, K.L.2
Mokhtar, M.B.3
Thomas, E.A.4
Reid, C.A.5
Petrou, S.6
-
101
-
-
0025044555
-
A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel
-
Auld VJ, Goldin AL, Krafte DS, Catterall WA, Lester HA, et al. 1990. A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel. Proc. Natl. Acad. Sci. USA 87:323-27
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 323-327
-
-
Auld, V.J.1
Goldin, A.L.2
Krafte, D.S.3
Catterall, W.A.4
Lester, H.A.5
-
102
-
-
20244368950
-
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin
-
Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, et al. 2005. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc. Natl. Acad. Sci. USA 102:5507-12
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 5507-5512
-
-
Tate, S.K.1
Depondt, C.2
Sisodiya, S.M.3
Cavalleri, G.L.4
Schorge, S.5
-
103
-
-
33749037686
-
A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose
-
Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, et al. 2006. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet. Genomics 16:721-26
-
(2006)
Pharmacogenet. Genomics
, vol.16
, pp. 721-726
-
-
Tate, S.K.1
Singh, R.2
Hung, C.C.3
Tai, J.J.4
Depondt, C.5
-
104
-
-
73349143949
-
Lack of replication of association between SCN1A SNP and febrile seizures
-
Petrovski S, Scheffer IE, Sisodiya SM, O'Brien TJ, Berkovic SF. 2009. Lack of replication of association between SCN1A SNP and febrile seizures. Neurology 73:1928-30
-
(2009)
Neurology
, vol.73
, pp. 1928-1930
-
-
Petrovski, S.1
Scheffer, I.E.2
Sisodiya, S.M.3
O'Brien, T.J.4
Berkovic, S.F.5
-
105
-
-
45649085478
-
How do mutant NaV1.1 sodium channels cause epilepsy?
-
Ragsdale DS. 2008. How do mutant NaV1.1 sodium channels cause epilepsy? Brain Res. Rev. 58:149-59
-
(2008)
Brain Res. Rev.
, vol.58
, pp. 149-159
-
-
Ragsdale, D.S.1
-
107
-
-
0037077834
-
Sodium-channel defects in benign familial neonatal-infantile seizures
-
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, et al. 2002. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360:851-52
-
(2002)
Lancet
, vol.360
, pp. 851-852
-
-
Heron, S.E.1
Crossland, K.M.2
Andermann, E.3
Phillips, H.A.4
Hall, A.J.5
-
108
-
-
12144285702
-
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
-
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, et al. 2004. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann. Neurol. 55:550-57
-
(2004)
Ann. Neurol.
, vol.55
, pp. 550-557
-
-
Berkovic, S.F.1
Heron, S.E.2
Giordano, L.3
Marini, C.4
Guerrini, R.5
-
109
-
-
0033636506
-
Nomenclature of voltage-gated sodium channels
-
Goldin AL, Barchi RL, Caldwell JH, Hofmann F, Howe JR, et al. 2000. Nomenclature of voltage-gated sodium channels. Neuron 28:365-68
-
(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
-
111
-
-
77954887426
-
The axon initial segment and the maintenance of neuronal polarity
-
Rasband MN. 2010. The axon initial segment and the maintenance of neuronal polarity. Nat. Rev. Neurosci. 11:552-62
-
(2010)
Nat. Rev. Neurosci.
, vol.11
, pp. 552-562
-
-
Rasband, M.N.1
-
112
-
-
0023507934
-
Tissue-specific expression of the RI and RII sodium channel subtypes
-
Gordon D, Merrick D, Auld V, Dunn R, Goldin AL, et al. 1987. Tissue-specific expression of the RI and RII sodium channel subtypes. Proc. Natl. Acad. Sci. USA 84:8682-86
-
(1987)
Proc. Natl. Acad. Sci. USA
, vol.84
, pp. 8682-8686
-
-
Gordon, D.1
Merrick, D.2
Auld, V.3
Dunn, R.4
Goldin, A.L.5
-
113
-
-
0024810594
-
Differential regulation of three sodium channelmessenger RNAs in the rat central nervous system during development
-
Beckh S, Noda M, Lübbert H, Numa S. 1989. Differential regulation of three sodium channelmessenger RNAs in the rat central nervous system during development. EMBO J. 8:3611-16
-
(1989)
EMBO J.
, vol.8
, pp. 3611-3616
-
-
Beckh, S.1
Noda, M.2
Lübbert, H.3
Numa, S.4
-
115
-
-
51249105941
-
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures
-
Misra SN, Kahlig KM, George AL Jr. 2008. Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Epilepsia 49:1535-45
-
(2008)
Epilepsia
, vol.49
, pp. 1535-1545
-
-
Misra, S.N.1
Kahlig, K.M.2
George Jr., A.L.3
-
116
-
-
34249805422
-
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
-
Xu R, Thomas EA, Jenkins M, Gazina EV, Chiu C, et al. 2007. A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Mol. Cell. Neurosci. 35:292-301
-
(2007)
Mol. Cell. Neurosci.
, vol.35
, pp. 292-301
-
-
Xu, R.1
Thomas, E.A.2
Jenkins, M.3
Gazina, E.V.4
Chiu, C.5
-
117
-
-
0024058061
-
A rat brain sodium channel αsubunit with novel gating properties
-
Auld VJ, Goldin AL, Krafte DS, Marshall J, Dunn JM, et al. 1988. A rat brain sodium channel αsubunit with novel gating properties. Neuron 1:449-61
-
(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
-
118
-
-
78049523940
-
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
-
Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, et al. 2010. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75:1454-58
-
(2010)
Neurology
, vol.75
, pp. 1454-1458
-
-
Liao, Y.1
Anttonen, A.K.2
Liukkonen, E.3
Gaily, E.4
Maljevic, S.5
-
119
-
-
12144286141
-
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
-
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, et al. 2004. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J. Neurosci. 24:2690-98
-
(2004)
J. Neurosci.
, vol.24
, pp. 2690-2698
-
-
Kamiya, K.1
Kaneda, M.2
Sugawara, T.3
Mazaki, E.4
Okamura, N.5
-
120
-
-
70349686767
-
De novo mutations of voltage-gated sodium channel αiI gene SCN2A in intractable epilepsies
-
Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, et al. 2009. De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies. Neurology 73:1046-53
-
(2009)
Neurology
, vol.73
, pp. 1046-1053
-
-
Ogiwara, I.1
Ito, K.2
Sawaishi, Y.3
Osaka, H.4
Mazaki, E.5
-
121
-
-
47949128667
-
Functional properties and differential modulation of NaV1.6 channels
-
Chen Y, Yu F, Sharp E, Beacham D, Scheuer T, Catterall W. 2008. Functional properties and differential modulation of NaV1.6 channels. Mol. Cell. Neurosci. 38:607-15
-
(2008)
Mol. Cell. Neurosci.
, vol.38
, pp. 607-615
-
-
Chen, Y.1
Yu, F.2
Sharp, E.3
Beacham, D.4
Scheuer, T.5
Catterall, W.6
-
123
-
-
0023574096
-
+ channels: Local anesthetics, antiarrhythmics, and anticonvulsants
-
+ channels: local anesthetics, antiarrhythmics, and anticonvulsants. Trends Pharmacol. Sci. 8:57-65
-
(1987)
Trends Pharmacol. Sci.
, vol.8
, pp. 57-65
-
-
Catterall, W.A.1
-
124
-
-
0037373028
-
Differential interactions of lamotrigine and related drugs with transmembrane segment IVS6 of voltage-gated sodium channels
-
Liu G, Yarov-Yarovoy V, Qu Y, Nobbs M, Clare JJ, et al. 2003. Differential interactions of lamotrigine and related drugs with transmembrane segment IVS6 of voltage-gated sodium channels. Neuropharmacology 44:413-22
-
(2003)
Neuropharmacology
, vol.44
, pp. 413-422
-
-
Liu, G.1
Yarov-Yarovoy, V.2
Qu, Y.3
Nobbs, M.4
Clare, J.J.5
-
125
-
-
84862561580
-
Architecture and pore block of eukaryotic voltage-gated sodium channels in view of NavAb bacterial sodium channel structure
-
Tikhonov DB, Zhorov BS. 2012. Architecture and pore block of eukaryotic voltage-gated sodium channels in view of NavAb bacterial sodium channel structure. Mol. Pharmacol. 82:97-104
-
(2012)
Mol. Pharmacol.
, vol.82
, pp. 97-104
-
-
Tikhonov, D.B.1
Zhorov, B.S.2
-
126
-
-
0021913947
-
Voltage clamp analysis of the inhibitory actions of diphenylhydantoin and carbamazepine on voltage-sensitive sodium channels in neuroblastoma cells
-
Willow M, Gonoi T, Catterall WA. 1985. Voltage clamp analysis of the inhibitory actions of diphenylhydantoin and carbamazepine on voltage-sensitive sodium channels in neuroblastoma cells. Mol. Pharmacol. 27:549-58
-
(1985)
Mol. Pharmacol.
, vol.27
, pp. 549-558
-
-
Willow, M.1
Gonoi, T.2
Catterall, W.A.3
-
129
-
-
0029057901
-
Antiepileptic drug mechanisms of action
-
Macdonald RL, Kelly KM. 1995. Antiepileptic drug mechanisms of action. Epilepsia 36(Suppl. 2):S2-12
-
(1995)
Epilepsia
, vol.36
, Issue.SUPPL. 2
-
-
MacDonald, R.L.1
Kelly, K.M.2
-
130
-
-
47949128667
-
Functional properties and differential neuromodulation of NaV1.6 channels
-
Chen Y, Yu FH, Sharp EM, Beacham D, Scheuer T, Catterall WA. 2008. Functional properties and differential neuromodulation of NaV1.6 channels. Mol. Cell. Neurosci. 38:607-15
-
(2008)
Mol. Cell. Neurosci.
, vol.38
, pp. 607-615
-
-
Chen, Y.1
Yu, F.H.2
Sharp, E.M.3
Beacham, D.4
Scheuer, T.5
Catterall, W.A.6
-
131
-
-
0031010957
-
Resurgent sodium current and action potential formation in dissociated cerebellar Purkinje neurons
-
Raman IM, Bean BP. 1997. Resurgent sodium current and action potential formation in dissociated cerebellar Purkinje neurons. J. Neurosci. 17:4517-26
-
(1997)
J. Neurosci.
, vol.17
, pp. 4517-4526
-
-
Raman, I.M.1
Bean, B.P.2
-
132
-
-
0033103324
-
Ionic currents underlying spontaneous action potentials in isolated cerebellar Purkinje neurons
-
Raman IM, Bean BP. 1999. Ionic currents underlying spontaneous action potentials in isolated cerebellar Purkinje neurons. J. Neurosci. 19:1664-74
-
(1999)
J. Neurosci.
, vol.19
, pp. 1664-1674
-
-
Raman, I.M.1
Bean, B.P.2
-
133
-
-
35848965669
-
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy
-
Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A. 2007. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum. Mol. Genet. 16:2892-99
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2892-2899
-
-
Martin, M.S.1
Tang, B.2
Papale, L.A.3
Yu, F.H.4
Catterall, W.A.5
Escayg, A.6
-
134
-
-
65049088044
-
Preclinical assessment of proconvulsant drug activity and its relevance for predicting adverse events in humans
-
Loscher W. 2009. Preclinical assessment of proconvulsant drug activity and its relevance for predicting adverse events in humans. Eur. J. Pharmacol. 610:1-11
-
(2009)
Eur. J. Pharmacol.
, vol.610
, pp. 1-11
-
-
Loscher, W.1
-
135
-
-
0031947590
-
Lamotrigine and seizure aggravation in severe myoclonic epilepsy
-
Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. 1998. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 39:508-12
-
(1998)
Epilepsia
, vol.39
, pp. 508-512
-
-
Guerrini, R.1
Dravet, C.2
Genton, P.3
Belmonte, A.4
Kaminska, A.5
Dulac, O.6
-
136
-
-
77955984540
-
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of NaV 1.1
-
Liao WP, Shi YW, Long YS, Zeng Y, Li T, et al. 2010. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of NaV 1.1. Epilepsia 51:1669-78
-
(2010)
Epilepsia
, vol.51
, pp. 1669-1678
-
-
Liao, W.P.1
Shi, Y.W.2
Long, Y.S.3
Zeng, Y.4
Li, T.5
-
137
-
-
84862217247
-
SCN1A-related seizure disorders
-
TM, ed. RA Pagon, MP Adam, TD Bird, et al. Seattle: Univ. Wash
-
Miller IO, Sotero de Menezes MA. 2007 (2011). SCN1A-related seizure disorders. In Gene Reviews TM, ed. RA Pagon, MP Adam, TD Bird, et al. Seattle: Univ. Wash. http://www.ncbi.nlm.nih.gov/books/NBK1318/
-
(2007)
Gene Reviews
-
-
Miller, I.O.1
Sotero De-Menezes, M.A.2
-
138
-
-
0025805321
-
Characterization of tiagabine (NO-328), a new potent and selective GABA uptake inhibitor
-
Nielsen EB, Suzdak PD, Andersen KE, Knutsen LJ, Sonnewald U, Braestrup C. 1991. Characterization of tiagabine (NO-328), a new potent and selective GABA uptake inhibitor. Eur. J. Pharmacol. 196:257-66
-
(1991)
Eur. J. Pharmacol.
, vol.196
, pp. 257-266
-
-
Nielsen, E.B.1
Suzdak, P.D.2
Andersen, K.E.3
Knutsen, L.J.4
Sonnewald, U.5
Braestrup, C.6
-
139
-
-
84876519409
-
Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome
-
Oakley JC, Cho A, Cheah CS, Scheuer T, Catterall WA. 2013. Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome. J. Pharmacol. Exp. Ther. 345:215-24
-
(2013)
J. Pharmacol. Exp. Ther.
, vol.345
, pp. 215-224
-
-
Oakley, J.C.1
Cho, A.2
Cheah, C.S.3
Scheuer, T.4
Catterall, W.A.5
-
140
-
-
79955022433
-
Current therapeutic procedures in Dravet syndrome
-
Chiron C. 2011. Current therapeutic procedures in Dravet syndrome. Dev. Med. Child Neurol. 53(Suppl. 2):16-18
-
(2011)
Dev. Med. Child Neurol.
, vol.53
, Issue.SUPPL. 2
, pp. 16-18
-
-
Chiron, C.1
-
141
-
-
84855268762
-
Levetiracetam reverses synaptic deficits produced by overexpression of SV2A
-
Nowack A, Malarkey EB, Yao J, Bleckert A, Hill J, Bajjalieh SM. 2011. Levetiracetam reverses synaptic deficits produced by overexpression of SV2A. PLoS ONE 6:e29560
-
(2011)
PLoS ONE
, vol.6
-
-
Nowack, A.1
Malarkey, E.B.2
Yao, J.3
Bleckert, A.4
Hill, J.5
Bajjalieh, S.M.6
-
142
-
-
3042748137
-
The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam
-
Lynch BA, Lambeng N, Nocka K, Kensel-Hammes P, Bajjalieh SM, et al. 2004. The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam. Proc. Natl. Acad. Sci. USA 101:9861-66
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 9861-9866
-
-
Lynch, B.A.1
Lambeng, N.2
Nocka, K.3
Kensel-Hammes, P.4
Bajjalieh, S.M.5
-
143
-
-
20344392182
-
SCN1A mutations and epilepsy
-
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. 2005. SCN1A mutations and epilepsy. Hum. Mutat. 25:535-42
-
(2005)
Hum. Mutat.
, vol.25
, pp. 535-542
-
-
Mulley, J.C.1
Scheffer, I.E.2
Petrou, S.3
Dibbens, L.M.4
Berkovic, S.F.5
Harkin, L.A.6
|