-
1
-
-
0035956488
-
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil, B., Ge, Q., Desai, R., Ryther, R., Bazyk, A., Bailey, R., Haines, J.L., Sutcliffe, J.S., George Jr., A.L., 2001. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57, 2265-2272.
-
(2001)
Neurology
, vol.57
, pp. 2265-2272
-
-
Abou-Khalil, B.1
Ge, Q.2
Desai, R.3
Ryther, R.4
Bazyk, A.5
Bailey, R.6
Haines, J.L.7
Sutcliffe, J.S.8
George Jr., A.L.9
-
2
-
-
0141653010
-
Adeletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
-
Audenaert, D., Claes, L., Ceulemans, B., Lofgren, A., Van Broeckhoven, C., De Jonghe, P., 2003.Adeletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 61, 854-856.
-
(2003)
Neurology
, vol.61
, pp. 854-856
-
-
Audenaert, D.1
Claes, L.2
Ceulemans, B.3
Lofgren, A.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
3
-
-
0035030766
-
2-subunit gene
-
2-subunit gene. Nat. Genet. 28, 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
-
4
-
-
12144285702
-
Benign familial neonatalinfantile seizures: characterization of a new sodium channelopathy
-
Berkovic, S.F., Heron, S.E., Giordano, L., Marini, C., Guerrini, R., Kaplan, R.E., Gambardella, A., Steinlein, O.K., Grinton, B.E., Dean, J.T., Bordo, L., Hodgson, B.L., Yamamoto, T., Mulley, J.C., Zara, F., Scheffer, I.E., 2004. Benign familial neonatalinfantile seizures: characterization of a new sodium channelopathy. Ann. Neurol. 55, 550-557.
-
(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
Kaplan, R.E.6
Gambardella, A.7
Steinlein, O.K.8
Grinton, B.E.9
Dean, J.T.10
Bordo, L.11
Hodgson, B.L.12
Yamamoto, T.13
Mulley, J.C.14
Zara, F.15
Scheffer, I.E.16
-
5
-
-
0031760549
-
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy.
-
Bertrand, S., Weiland, S., Berkovic, S.F., Steinlein, O.K., Bertrand, D., 1998. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br. J. Pharmacol. 125, 751-760.
-
(1998)
Br. J. Pharmacol.
, vol.125
, pp. 751-760
-
-
Bertrand, S.1
Weiland, S.2
Berkovic, S.F.3
Steinlein, O.K.4
Bertrand, D.5
-
6
-
-
0032536030
-
Apotassium channel mutation in neonatal human epilepsy
-
Biervert, C., Schroeder, B.C., Kubisch, C., Berkovic, S.F., Propping, P., Jentsch, T.J., Steinlein, O.K., 1998.Apotassium channel mutation in neonatal human epilepsy. Science 279, 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
-
7
-
-
0031974209
-
A pore mutation in a novel KQT-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., 1998. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 18, 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
-
8
-
-
0041343159
-
Association between genetic variation of CACNA1H and childhood absence epilepsy
-
Chen, Y., Lu, J., Pan, H., Zhang, Y., Wu, H., Xu, K., Liu, X., Jiang, Y., Bao, X., Yao, Z., Ding, K., Lo, W.H., Qiang, B., Chan, P., Shen, Y., Wu, X., 2003. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann. Neurol. 54, 239-243.
-
(2003)
Ann. Neurol.
, vol.54
, pp. 239-243
-
-
Chen, Y.1
Lu, J.2
Pan, H.3
Zhang, Y.4
Wu, H.5
Xu, K.6
Liu, X.7
Jiang, Y.8
Bao, X.9
Yao, Z.10
Ding, K.11
Lo, W.H.12
Qiang, B.13
Chan, P.14
Shen, Y.15
Wu, X.16
-
9
-
-
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., Del-Favero, J., Ala-Mello, S., Basel-Vanagaite, L., Plecko, B., Raskin, S., Thiry, P., Wolf, N.I., Van Broeckhoven, C., De Jonghe, P., 2003. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 21, 615- 621.
-
(2003)
Hum. Mutat.
, vol.21
-
-
Claes, L.1
Ceulemans, B.2
Audenaert, D.3
Smets, K.4
Lofgren, A.5
Del-Favero, J.6
Ala-Mello, S.7
Basel-Vanagaite, L.8
Plecko, B.9
Raskin, S.10
Thiry, P.11
Wolf, N.I.12
Van Broeckhoven, C.13
De Jonghe, P.14
-
10
-
-
0034987073
-
De novo mutations in the sodiumchannel 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 sodiumchannel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 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
-
11
-
-
9944252377
-
Receptor trafficking and synaptic plasticity
-
Collingridge, G.L., Isaac, J.T.,Wang,Y.T., 2004. Receptor trafficking and synaptic plasticity. Nat. Rev. Neurosci. 5, 952-962.
-
(2004)
Nat. Rev. Neurosci.
, vol.5
, pp. 952-962
-
-
Collingridge, G.L.1
Isaac, J.T.2
Wang, Y.T.3
-
12
-
-
10744231473
-
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
-
Coppola, G., Castaldo, P., Miraglia del Giudice, E., Bellini, G., Galasso, F., Soldovieri, M.V., Anzalone, L., Sferro, C., Annunziato, L., Pascotto, A., Taglialatela, M., 2003. A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. Neurology 61, 131-134.
-
(2003)
Neurology
, vol.61
, pp. 131-134
-
-
Coppola, G.1
Castaldo, P.2
Miraglia del Giudice, E.3
Bellini, G.4
Galasso, F.5
Soldovieri, M.V.6
Anzalone, L.7
Sferro, C.8
Annunziato, L.9
Pascotto, A.10
Taglialatela, M.11
-
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., 2002. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31, 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 receptorβ2 subunit is mutant in nocturnal frontal lobe epilepsy
-
DeFusco, M., Becchetti, A., Patrignani, A., Annesi, G., Gambardella, A., Quattrone, A., Ballabio, A.,Wanke, E., Casari, G., 2000. The nicotinic receptorβ2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat. Genet. 26, 275-276.
-
(2000)
Nat. Genet.
, vol.26
, pp. 275-276
-
-
DeFusco, 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
-
16
-
-
22844445484
-
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmalmovement disorder
-
Du, W., Bautista, J.F., Yang, H., Diez-Sampedro, A., You, S.A., Wang, L., Kotagal, P., Luders, H.O., Shi, J., Cui, J., Richerson, G.B., Wang, Q.K., 2005. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmalmovement disorder. Nat. Genet. 37, 733-738.
-
(2005)
Nat. Genet.
, vol.37
, pp. 733-738
-
-
Du, W.1
Bautista, J.F.2
Yang, H.3
Diez-Sampedro, A.4
You, S.A.5
Wang, L.6
Kotagal, P.7
Luders, H.O.8
Shi, J.9
Cui, J.10
Richerson, G.B.11
Wang, Q.K.12
-
17
-
-
0029011707
-
Hippocampal GABA transporter function in temporal-lobe epilepsy
-
During, M.J., Ryder, K.M., Spencer, D.D., 1995. Hippocampal GABA transporter function in temporal-lobe epilepsy. Nature 376, 174-177.
-
(1995)
Nature
, vol.376
, pp. 174-177
-
-
During, M.J.1
Ryder, K.M.2
Spencer, D.D.3
-
18
-
-
18744395493
-
Protein trafficking abnormalities: a new mechanism in drug-induced long QT syndrome
-
Eckhardt, L.L., Rajamani, S., January, C.T., 2005. Protein trafficking abnormalities: a new mechanism in drug-induced long QT syndrome. Br. J. Pharmacol. 145, 3-4.
-
(2005)
Br. J. Pharmacol.
, vol.145
, pp. 3-4
-
-
Eckhardt, L.L.1
Rajamani, S.2
January, C.T.3
-
19
-
-
0033910736
-
Coding and noncoding variation of the human calcium-channelβ4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
Escayg, A., De Waard, M., Lee, D.D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M.H., 2000a. Coding and noncoding variation of the human calcium-channelβ4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66, 1531-1539.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1531-1539
-
-
Escayg, A.1
De Waard, M.2
Lee, D.D.3
Bichet, D.4
Wolf, P.5
Mayer, T.6
Johnston, J.7
Baloh, R.8
Sander, T.9
Meisler, M.H.10
-
20
-
-
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., 2000b. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24, 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
-
21
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy
-
Escayg, A., Heils, A., MacDonald, B.T., Haug, K., Sander, T., Meisler, M.H., 2001. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68, 866-873.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
22
-
-
0344672944
-
Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
Fujiwara, T., Sugawara, T., Mazaki-Miyazaki, E., Takahashi, Y., Fukushima, K.,Watanabe, M., Hara, K., Morikawa, T., Yagi, K., Yamakawa, K., Inoue, Y., 2003. Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126, 531-546.
-
(2003)
Brain
, vol.126
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Takahashi, Y.4
Fukushima, K.5
Watanabe, M.6
Hara, K.7
Morikawa, T.8
Yagi, K.9
Yamakawa, K.10
Inoue, Y.11
-
23
-
-
10744227466
-
Mutations of neuronal voltage-gated Na+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
-
Fukuma, G., Oguni, H., Shirasaka, Y., Watanabe, K., Miyajima, T., Yasumoto, S., Ohfu, M., Inoue, T.,Watanachai, A., Kira, R., Matsuo, M., Muranaka, H., Sofue, F., Zhang, B., Kaneko, S., Mitsudome, A., Hirose, S., 2004. Mutations of neuronal voltage-gated Na+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 45, 140-148.
-
(2004)
Epilepsia
, vol.45
, pp. 140-148
-
-
Fukuma, G.1
Oguni, H.2
Shirasaka, Y.3
Watanabe, K.4
Miyajima, T.5
Yasumoto, S.6
Ohfu, M.7
Inoue, T.8
Watanachai, A.9
Kira, R.10
Matsuo, M.11
Muranaka, H.12
Sofue, F.13
Zhang, B.14
Kaneko, S.15
Mitsudome, A.16
Hirose, S.17
-
24
-
-
27844480081
-
Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the α1 subunit
-
Gallagher, M.J., Shen, W., Song, L., Macdonald, R.L., 2005. Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the α1 subunit. J. Biol. Chem. 280, 37995-38004.
-
(2005)
J. Biol Chem.
, vol.280
, pp. 37995-38004
-
-
Gallagher, M.J.1
Shen, W.2
Song, L.3
Macdonald, R.L.4
-
25
-
-
3042599918
-
The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit positiondependent reduction of heterozygous receptor currents and alpha1 subunit protein expression
-
Gallagher, M.J., Song, L., Arain, F., Macdonald, R.L., 2004. The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit positiondependent reduction of heterozygous receptor currents and alpha1 subunit protein expression. J. Neurosci. 24, 5570- 5578.
-
(2004)
J. Neurosci.
, vol.24
-
-
Gallagher, M.J.1
Song, L.2
Arain, F.3
Macdonald, R.L.4
-
26
-
-
0038324123
-
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity
-
Gennaro, E., Veggiotti, P., Malacarne, M., Madia, F., Cecconi, M., Cardinali, S., Cassetti, A., Cecconi, I., Bertini, E., Bianchi, A., Gobbi, G., Zara, F., 2003. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord. 5, 21-25.
-
(2003)
Epileptic. Disord.
, vol.5
, pp. 21-25
-
-
Gennaro, E.1
Veggiotti, P.2
Malacarne, M.3
Madia, F.4
Cecconi, M.5
Cardinali, S.6
Cassetti, A.7
Cecconi, I.8
Bertini, E.9
Bianchi, A.10
Gobbi, G.11
Zara, F.12
-
27
-
-
18044383376
-
2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis ofGABAA receptors
-
2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis ofGABAA receptors. Mol. Cell. Neurosci. 29, 120-127.
-
(2005)
Mol. Cell. Neurosci.
, vol.29
, pp. 120-127
-
-
Hales, T.G.1
Tang, H.2
Bollan, K.A.3
Johnson, S.J.4
King, D.P.5
McDonald, N.A.6
Cheng, A.7
Connolly, C.N.8
-
28
-
-
0036155260
-
2 subunit in a family with generalized epilepsy with febrile seizures plus
-
2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70, 530-536.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 530-536
-
-
Harkin, L.A.1
Bowser, D.N.2
Dibbens, L.M.3
Singh, R.4
Phillips, F.5
Wallace, R.H.6
Richards, M.C.7
Williams, D.A.8
Mulley, J.C.9
Berkovic, S.F.10
Scheffer, I.E.11
Petrou, S.12
-
29
-
-
0344091562
-
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
-
Haug, K., Warnstedt, M., Alekov, A.K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., Dullinger, J.S., Rau, B., Haverkamp, F., Beyenburg, S., Schulz, H., Janz, D., Giese, B., Muller-Newen, G., Propping, P., Elger, C.E., Fahlke, C., Lerche, H., Heils, A., 2003. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat. Genet. 33, 527-532.
-
(2003)
Nat. Genet.
, vol.33
, pp. 527-532
-
-
Haug, K.1
Warnstedt, M.2
Alekov, A.K.3
Sander, T.4
Ramirez, A.5
Poser, B.6
Maljevic, S.7
Hebeisen, S.8
Kubisch, C.9
Rebstock, J.10
Horvath, S.11
Hallmann, K.12
Dullinger, J.S.13
Rau, B.14
Haverkamp, F.15
Beyenburg, S.16
Schulz, H.17
Janz, D.18
Giese, B.19
Muller-Newen, G.20
Propping, P.21
Elger, C.E.22
Fahlke, C.23
Lerche, H.24
Heils, A.25
more..
-
30
-
-
0037077834
-
Sodiumchannel defects in benign familial neonatal-infantile seizures
-
Heron, S.E., Crossland, K.M., Andermann, E., Phillips, H.A., Hall, A.J., Bleasel, A., Shevell, M., Mercho, S., Seni, M.H., Guiot, M.C., Mulley, J.C., Berkovic, S.F., Scheffer, I.E., 2002. Sodiumchannel defects in benign familial neonatal-infantile seizures. Lancet 360, 851-852.
-
(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
Bleasel, A.6
Shevell, M.7
Mercho, S.8
Seni, M.H.9
Guiot, M.C.10
Mulley, J.C.11
Berkovic, S.F.12
Scheffer, I.E.13
-
31
-
-
0033544326
-
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
-
Hirose, S., Iwata, H., Akiyoshi, H., Kobayashi, K., Ito, M., Wada, K., Kaneko, S., Mitsudome, A., 1999. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 53, 1749-1753.
-
(1999)
Neurology
, vol.53
, pp. 1749-1753
-
-
Hirose, S.1
Iwata, H.2
Akiyoshi, H.3
Kobayashi, K.4
Ito, M.5
Wada, K.6
Kaneko, S.7
Mitsudome, A.8
-
32
-
-
14944384270
-
Genetics of idiopathic epilepsies
-
Hirose, S., Mitsudome, A., Okada, M., Kaneko, S., 2005. Genetics of idiopathic epilepsies. Epilepsia 46 (Suppl. 1), 38-43.
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL. 1
, pp. 38-43
-
-
Hirose, S.1
Mitsudome, A.2
Okada, M.3
Kaneko, S.4
-
33
-
-
0037678473
-
The genetics of febrile seizures and related epilepsy syndromes
-
Hirose, S., Mohney, R.P., Okada, M., Kaneko, S., Mitsudome, A., 2003. The genetics of febrile seizures and related epilepsy syndromes. Brain Dev. 25, 304-312.
-
(2003)
Brain Dev.
, vol.25
, pp. 304-312
-
-
Hirose, S.1
Mohney, R.P.2
Okada, M.3
Kaneko, S.4
Mitsudome, A.5
-
34
-
-
0034308174
-
Are some idiopathic epilepsies disorders of ion channels? A working hypothesis
-
Hirose, S., Okada, M., Kaneko, S., Mitsudome, A., 2000a. Are some idiopathic epilepsies disorders of ion channels? A working hypothesis. Epilepsy Res. 41, 191-204.
-
(2000)
Epilepsy Res.
, vol.41
, pp. 191-204
-
-
Hirose, S.1
Okada, M.2
Kaneko, S.3
Mitsudome, A.4
-
35
-
-
18844468798
-
A novel mutation of KCNQ3 (c.25T > C) in a Japanese family with benign familial neonatal convulsions (BFNC2)
-
Hirose, S., Zenri, F., Akiyoshi, H., Fukuma, G., Iwata, H., Inoue, T., Yonetani, M., Tsutsumi, M., Muranaka, H., Kurokawa, T., Hanai, T., Wada, K., Kaneko, S., Mitsudome, A., 2000b. A novel mutation of KCNQ3 (c.925T > C) in a Japanese family with benign familial neonatal convulsions (BFNC2). Ann. Neurol. 47, 822-826.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 822-826
-
-
Hirose, S.1
Zenri, F.2
Akiyoshi, H.3
Fukuma, G.4
Iwata, H.5
Inoue, T.6
Yonetani, M.7
Tsutsumi, M.8
Muranaka, H.9
Kurokawa, T.10
Hanai, T.11
Wada, K.12
Kaneko, S.13
Mitsudome, A.14
-
36
-
-
0036436515
-
Molecular genetics of human familial epilepsy syndrome
-
Hirose, S., Okada, M., Kaneko, S., Mitsudome, A., 2002a. Molecular genetics of human familial epilepsy syndrome. Epilepsia 43, 21-25.
-
(2002)
Epilepsia
, vol.43
, pp. 21-25
-
-
Hirose, S.1
Okada, M.2
Kaneko, S.3
Mitsudome, A.4
-
37
-
-
0036100806
-
Genetics abnormalities underlying familial epilepsy syndromes
-
Hirose, S., Okada, M.,Yamakawa, K., Sugawara, T., Fukuma, G., Ito, M., Kaneko, S., Mitsudome, A., 2002b. Genetics abnormalities underlying familial epilepsy syndromes. Brain Dev. 24, 211-222.
-
(2002)
Brain Dev.
, vol.24
, pp. 211-222
-
-
Hirose, S.1
Okada, M.2
Yamakawa, K.3
Sugawara, T.4
Fukuma, G.5
Ito, M.6
Kaneko, S.7
Mitsudome, A.8
-
38
-
-
3542995089
-
Nonsense-mediated decay approaches the clinic
-
Holbrook, J.A., Neu-Yilik, G., Hentze, M.W., Kulozik, A.E., 2004. Nonsense-mediated decay approaches the clinic. Nat. Genet. 36, 801-808.
-
(2004)
Nat. Genet.
, vol.36
, pp. 801-808
-
-
Holbrook, J.A.1
Neu-Yilik, G.2
Hentze, M.W.3
Kulozik, A.E.4
-
39
-
-
0038143287
-
Parkinsonian mimetics induce aspects of unfolded protein response in death of dopaminergic neurons
-
Holtz, W.A., O'Malley, K.L., 2003. Parkinsonian mimetics induce aspects of unfolded protein response in death of dopaminergic neurons. J. Biol. Chem. 278, 19367-19377.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 19367-19377
-
-
Holtz, W.A.1
O'Malley, K.L.2
-
40
-
-
0035978485
-
The unfolded protein response and Alzheimer's disease
-
Imaizumi, K., Miyoshi, K., Katayama, T., Yoneda, T., Taniguchi, M., Kudo, T., Tohyama, M., 2001. The unfolded protein response and Alzheimer's disease. Biochim. Biophys. Acta 1536, 85-96.
-
(2001)
Biochim. Biophys. Acta
, vol.1536
, pp. 85-96
-
-
Imaizumi, K.1
Miyoshi, K.2
Katayama, T.3
Yoneda, T.4
Taniguchi, M.5
Kudo, T.6
Tohyama, M.7
-
41
-
-
12144285746
-
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
-
Inoue, K., Khajavi, M.,Ohyama, T., Hirabayashi, S.,Wilson, J., Reggin, J.D., Mancias, P., Butler, I.J., Wilkinson, M.F., Wegner, M., Lupski, J.R., 2004. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat. Genet. 36, 361-369.
-
(2004)
Nat. Genet.
, vol.36
, pp. 361-369
-
-
Inoue, K.1
Khajavi, M.2
Ohyama, T.3
Hirabayashi, S.4
Wilson, J.5
Reggin, J.D.6
Mancias, P.7
Butler, I.J.8
Wilkinson, M.F.9
Wegner, M.10
Lupski, J.R.11
-
42
-
-
0033989534
-
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family
-
Ito, M., Kobayashi, K., Fujii, T., Okuno, T., Hirose, S., Iwata, H., Mitsudome, A., Kaneko, S., 2000. Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. Epilepsia 41, 52-58.
-
(2000)
Epilepsia
, vol.41
, pp. 52-58
-
-
Ito, M.1
Kobayashi, K.2
Fujii, T.3
Okuno, T.4
Hirose, S.5
Iwata, H.6
Mitsudome, A.7
Kaneko, S.8
-
43
-
-
0035828406
-
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
-
Jouvenceau, A., Eunson, L.H., Spauschus, A., Ramesh, V., Zuberi, S.M., Kullmann, D.M., Hanna, M.G., 2001. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 358, 801-807.
-
(2001)
Lancet
, vol.358
, pp. 801-807
-
-
Jouvenceau, A.1
Eunson, L.H.2
Spauschus, A.3
Ramesh, V.4
Zuberi, S.M.5
Kullmann, D.M.6
Hanna, M.G.7
-
44
-
-
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., Montal, M., Makita, N., Tanaka, M., Fukushima, K., Fujiwara, T., Inoue, Y., Yamakawa, K., 2004. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J. Neurosci. 24, 2690-2698.
-
(2004)
J. Neurosci.
, vol.24
, pp. 2690-2698
-
-
Kamiya, K.1
Kaneda, M.2
Sugawara, T.3
Mazaki, E.4
Okamura, N.5
Montal, M.6
Makita, N.7
Tanaka, M.8
Fukushima, K.9
Fujiwara, T.10
Inoue, Y.11
Yamakawa, K.12
-
45
-
-
3242784760
-
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
-
Kanai, K., Hirose, S., Oguni, H., Fukuma, G., Shirasaka, Y., Miyajima, T., Wada, K., Iwasa, H., Yasumoto, S., Matsuo, M., Ito, M., Mitsudome, A., Kaneko, S., 2004. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 63, 329-334.
-
(2004)
Neurology
, vol.63
, pp. 329-334
-
-
Kanai, K.1
Hirose, S.2
Oguni, H.3
Fukuma, G.4
Shirasaka, Y.5
Miyajima, T.6
Wada, K.7
Iwasa, H.8
Yasumoto, S.9
Matsuo, M.10
Ito, M.11
Mitsudome, A.12
Kaneko, S.13
-
46
-
-
0036318060
-
A splice-site mutation inGABRG2associated with childhood absence epilepsy and febrile convulsions
-
Kananura, C., Haug, K., Sander, T., Runge, U., Gu, W., Hallmann, K., Rebstock, J., Heils, A., Steinlein, O.K., 2002. A splice-site mutation inGABRG2associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59, 1137-1141.
-
(2002)
Arch. Neurol.
, vol.59
, pp. 1137-1141
-
-
Kananura, C.1
Haug, K.2
Sander, T.3
Runge, U.4
Gu, W.5
Hallmann, K.6
Rebstock, J.7
Heils, A.8
Steinlein, O.K.9
-
47
-
-
5444253356
-
2S receptors in the endoplasmic reticulum
-
2S receptors in the endoplasmic reticulum. J. Neurosci. 24, 8672-8677.
-
(2004)
J. Neurosci.
, vol.24
, pp. 8672-8677
-
-
Kang, J.Q.1
Macdonald, R.L.2
-
48
-
-
4444298732
-
Induction of neuronal death by ER stress in Alzheimer's disease
-
Katayama, T., Imaizumi, K., Manabe, T., Hitomi, J., Kudo, T., Tohyama, M., 2004. Induction of neuronal death by ER stress in Alzheimer's disease. J. Chem. Neuroanat. 28, 67-78.
-
(2004)
J. Chem. Neuroanat.
, vol.28
, pp. 67-78
-
-
Katayama, T.1
Imaizumi, K.2
Manabe, T.3
Hitomi, J.4
Kudo, T.5
Tohyama, M.6
-
49
-
-
3042714804
-
The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ
-
Keller, C.A., Yuan, X., Panzanelli, P., Martin, M.L., Alldred, M., Sassoe-Pognetto, M., Luscher, B., 2004. The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ. J. Neurosci. 24, 5881-5891.
-
(2004)
J. Neurosci.
, vol.24
, pp. 5881-5891
-
-
Keller, C.A.1
Yuan, X.2
Panzanelli, P.3
Martin, M.L.4
Alldred, M.5
Sassoe-Pognetto, M.6
Luscher, B.7
-
50
-
-
27244435246
-
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
-
Khajavi, M., Inoue, K., Wiszniewski, W., Ohyama, T., Snipes, G.J., Lupski, J.R., 2005. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am. J. Hum. Genet. 77, 841-850.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 841-850
-
-
Khajavi, M.1
Inoue, K.2
Wiszniewski, W.3
Ohyama, T.4
Snipes, G.J.5
Lupski, J.R.6
-
51
-
-
23944514748
-
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
-
Kimura, K., Sugawara, T., Mazaki-Miyazaki, E., Hoshino, K., Nomura, Y., Tateno, A., Hachimori, K., Yamakawa, K., Segawa, M., 2005. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev. 27, 424-430.
-
(2005)
Brain Dev.
, vol.27
, pp. 424-430
-
-
Kimura, K.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Hoshino, K.4
Nomura, Y.5
Tateno, A.6
Hachimori, K.7
Yamakawa, K.8
Segawa, M.9
-
52
-
-
0030723590
-
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human α4β2 nicotinic acetylcholine receptors
-
Kuryatov, A., Gerzanich, V., Nelson, M., Olale, F., Lindstrom, J., 1997. Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human α4β2 nicotinic acetylcholine receptors. J. Neurosci. 17, 9035-9047.
-
(1997)
J. Neurosci.
, vol.17
, pp. 9035-9047
-
-
Kuryatov, A.1
Gerzanich, V.2
Nelson, M.3
Olale, F.4
Lindstrom, J.5
-
53
-
-
0034100615
-
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
-
Lee, W.L., Biervert, C., Hallmann, K., Tay, A., Dean, J.C., Steinlein, O.K., 2000. A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family. Neuropediatrics 31, 9-12.
-
(2000)
Neuropediatrics
, vol.31
, pp. 9-12
-
-
Lee, W.L.1
Biervert, C.2
Hallmann, K.3
Tay, A.4
Dean, J.C.5
Steinlein, O.K.6
-
54
-
-
0032832304
-
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions
-
Lerche, H., Biervert, C., Alekov, A.K., Schleithoff, L., Lindner, M., Klinger,W., Bretschneider, F., Mitrovic, N., Jurkat-Rott, K., Bode, H., Lehmann-Horn, F., Steinlein, O.K., 1999. A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann. Neurol. 46, 305-312.
-
(1999)
Ann. Neurol.
, vol.46
, pp. 305-312
-
-
Lerche, H.1
Biervert, C.2
Alekov, A.K.3
Schleithoff, L.4
Lindner, M.5
Klinger, W.6
Bretschneider, F.7
Mitrovic, N.8
Jurkat-Rott, K.9
Bode, H.10
Lehmann-Horn, F.11
Steinlein, O.K.12
-
55
-
-
4644294405
-
GABA(A) receptor epilepsy mutations
-
Macdonald, R.L., Gallagher, M.J., Feng, H.J., Kang, J., 2004. GABA(A) receptor epilepsy mutations. Biochem. Pharmacol. 68, 1497-1506.
-
(2004)
Biochem. Pharmacol.
, vol.68
, pp. 1497-1506
-
-
Macdonald, R.L.1
Gallagher, M.J.2
Feng, H.J.3
Kang, J.4
-
56
-
-
24344463035
-
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function
-
Marthinet, E., Bloc, A., Oka, Y., Tanizawa, Y., Wehrle-Haller, B., Bancila,V., Dubuis, J.M., Philippe, J., Schwitzgebel,V.M., 2005. Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. J. Clin. Endocrinol. Metab. 90, 5401-5406.
-
(2005)
J. Clin. Endocrinol. Metab.
, vol.90
, pp. 5401-5406
-
-
Marthinet, E.1
Bloc, A.2
Oka, Y.3
Tanizawa, Y.4
Wehrle-Haller, B.5
Bancila, V.6
Dubuis, J.M.7
Philippe, J.8
Schwitzgebel, V.M.9
-
57
-
-
18344393774
-
Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes
-
Matsushima, N., Hirose, S., Iwata, H., Fukuma, G., Yonetani, M., Nagayama, C., Hamanaka, W., Matsunaka, Y., Kaneko, S., Mitsudome, A., Sugiyama, H., 2002. Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. Epilepsy Res. 48, 181- 186.
-
(2002)
Epilepsy Res.
, vol.48
-
-
Matsushima, N.1
Hirose, S.2
Iwata, H.3
Fukuma, G.4
Yonetani, M.5
Nagayama, C.6
Hamanaka, W.7
Matsunaka, Y.8
Kaneko, S.9
Mitsudome, A.10
Sugiyama, H.11
-
58
-
-
0033600245
-
Emerging insights into the genesis of epilepsy
-
McNamara, J.O., 1999. Emerging insights into the genesis of epilepsy. Nature 399, A15-A22.
-
(1999)
Nature
, vol.399
-
-
McNamara, J.O.1
-
59
-
-
23144451257
-
ERAD: the long road to destruction
-
Meusser, B., Hirsch, C., Jarosch, E., Sommer, T., 2005. ERAD: the long road to destruction. Nat. Cell. Biol. 7, 766-772.
-
(2005)
Nat. Cell. Biol.
, vol.7
, pp. 766-772
-
-
Meusser, B.1
Hirsch, C.2
Jarosch, E.3
Sommer, T.4
-
60
-
-
0034507233
-
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor
-
Miraglia del Giudice, E., Coppola, G., Scuccimarra, G., Cirillo, G., Bellini, G., Pascotto, A., 2000. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur. J. Hum. Genet. 8, 994-997.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 994-997
-
-
Miraglia del Giudice, E.1
Coppola, G.2
Scuccimarra, G.3
Cirillo, G.4
Bellini, G.5
Pascotto, A.6
-
61
-
-
0034716887
-
Tripartite management of unfolded proteins in the endoplasmic reticulum
-
Mori, K., 2000. Tripartite management of unfolded proteins in the endoplasmic reticulum. Cell 101, 451-454.
-
(2000)
Cell
, vol.101
, pp. 451-454
-
-
Mori, K.1
-
62
-
-
0035319805
-
Constructing inhibitory synapses
-
Moss, S.J., Smart, T.G., 2001. Constructing inhibitory synapses. Nat. Rev. Neurosci. 2, 240-250.
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, pp. 240-250
-
-
Moss, S.J.1
Smart, T.G.2
-
63
-
-
20344392182
-
SCN1A mutations and epilepsy
-
Mulley, J.C., Scheffer, I.E., Petrou, S., Dibbens, L.M., Berkovic, S.F., Harkin, L.A., 2005. SCN1A mutations and epilepsy. Hum. Mutat. 25, 535-542.
-
(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
-
64
-
-
10744226685
-
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
-
Nabbout, R., Gennaro, E., Dalla Bernardina, B., Dulac, O., Madia, F., Bertini, E., Capovilla, G., Chiron, C., Cristofori, G., Elia, M., Fontana, E., Gaggero, R., Granata, T., Guerrini, R., Loi, M., La Selva, L., Lispi, M.L., Matricardi, A., Romeo, A., Tzolas, V., Valseriati, D., Veggiotti, P., Vigevano, F., Vallee, L., Dagna Bricarelli, F., Bianchi, A., Zara, F., 2003. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60, 1961-1967.
-
(2003)
Neurology
, vol.60
, pp. 1961-1967
-
-
Nabbout, R.1
Gennaro, E.2
Dalla Bernardina, B.3
Dulac, O.4
Madia, F.5
Bertini, E.6
Capovilla, G.7
Chiron, C.8
Cristofori, G.9
Elia, M.10
Fontana, E.11
Gaggero, R.12
Granata, T.13
Guerrini, R.14
Loi, M.15
La Selva, L.16
Lispi, M.L.17
Matricardi, A.18
Romeo, A.19
Tzolas, V.20
Valseriati, D.21
Veggiotti, P.22
Vigevano, F.23
Vallee, L.24
Dagna Bricarelli, F.25
Bianchi, A.26
Zara, F.27
more..
-
65
-
-
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
-
66
-
-
12244252214
-
Age-dependent modulation of hippocampal excitability by KCNQ-channels
-
Okada, M., Zhu, G., Hirose, S., Ito, K.I., Murakami, T., Wakui, M., Kaneko, S., 2003. Age-dependent modulation of hippocampal excitability by KCNQ-channels. Epilepsy Res. 53, 81-94.
-
(2003)
Epilepsy Res.
, vol.53
, pp. 81-94
-
-
Okada, M.1
Zhu, G.2
Hirose, S.3
Ito, K.I.4
Murakami, T.5
Wakui, M.6
Kaneko, S.7
-
67
-
-
0035163074
-
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Phillips, H.A., Favre, I., Kirkpatrick, M., Zuberi, S.M., Goudie, D., Heron, S.E., Scheffer, I.E., Sutherland, G.R., Berkovic, S.F., Bertrand, D., Mulley, J.C., 2001. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet. 68, 225- 231.
-
(2001)
Am. J. Hum. Genet.
, vol.68
-
-
Phillips, H.A.1
Favre, I.2
Kirkpatrick, M.3
Zuberi, S.M.4
Goudie, D.5
Heron, S.E.6
Scheffer, I.E.7
Sutherland, G.R.8
Berkovic, S.F.9
Bertrand, D.10
Mulley, J.C.11
-
68
-
-
0033854176
-
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
-
Phillips, H.A., Marini, C., Scheffer, I.E., Sutherland, G.R., Mulley, J.C., Berkovic, S.F., 2000. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann. Neurol. 48, 264- 267.
-
(2000)
Ann. Neurol.
, vol.48
-
-
Phillips, H.A.1
Marini, C.2
Scheffer, I.E.3
Sutherland, G.R.4
Mulley, J.C.5
Berkovic, S.F.6
-
69
-
-
0032231423
-
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
-
Phillips, H.A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D., Howell, S.J., Stephenson, J.B., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S.F., Mulley, J.C., 1998. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63, 1108-1116.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Crossland, K.M.3
Bhatia, K.P.4
Fish, D.R.5
Marsden, C.D.6
Howell, S.J.7
Stephenson, J.B.8
Tolmie, J.9
Plazzi, G.10
Eeg-Olofsson, O.11
Singh, R.12
Lopes-Cendes, I.13
Andermann, E.14
Andermann, F.15
Berkovic, S.F.16
Mulley, J.C.17
-
70
-
-
0032736665
-
Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases
-
Provini, F., Plazzi, G., Tinuper, P., Vandi, S., Lugaresi, E., Montagna, P., 1999. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain 122 (Pt 6), 1017-1031.
-
(1999)
Brain
, vol.122
, Issue.PT 6
, pp. 1017-1031
-
-
Provini, F.1
Plazzi, G.2
Tinuper, P.3
Vandi, S.4
Lugaresi, E.5
Montagna, P.6
-
71
-
-
1842843860
-
Coupling endoplasmic reticulum stress to the cell death program
-
Rao, R.V., Ellerby, H.M., Bredesen, D.E., 2004. Coupling endoplasmic reticulum stress to the cell death program. Cell Death Differ. 11, 372-380.
-
(2004)
Cell Death Differ.
, vol.11
, pp. 372-380
-
-
Rao, R.V.1
Ellerby, H.M.2
Bredesen, D.E.3
-
72
-
-
3342929286
-
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
-
Rhodes, T.H., Lossin, C., Vanoye, C.G., Wang, D.W., George Jr., A.L., 2004. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc. Natl. Acad. Sci. U.S.A. 101, 11147-11152.
-
(2004)
Proc. Natl. Acad. Sci. U.S.A.
, vol.101
, pp. 11147-11152
-
-
Rhodes, T.H.1
Lossin, C.2
Vanoye, C.G.3
Wang, D.W.4
George Jr., A.L.5
-
73
-
-
29244448307
-
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures
-
Rhodes, T.H., Vanoye, C.G., Ohmori, I., Ogiwara, I., Yamakawa, K., George Jr., A.L., 2005. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J. Physiol. 569, 433-445.
-
(2005)
J. Physiol.
, vol.569
, pp. 433-445
-
-
Rhodes, T.H.1
Vanoye, C.G.2
Ohmori, I.3
Ogiwara, I.4
Yamakawa, K.5
George Jr., A.L.6
-
74
-
-
0038606473
-
Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian α4β2 acetylcholine response
-
Rodrigues-Pinguet, N., Jia, L., Li, M., Figl, A., Klaassen, A., Truong, A., Lester, H.A., Cohen, B.N., 2003. Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian α4β2 acetylcholine response. J. Physiol. 550, 11-26.
-
(2003)
J. Physiol.
, vol.550
, pp. 11-26
-
-
Rodrigues-Pinguet, N.1
Jia, L.2
Li, M.3
Figl, A.4
Klaassen, A.5
Truong, A.6
Lester, H.A.7
Cohen, B.N.8
-
76
-
-
0037114971
-
Endoplasmic reticulum stress and the unfolded protein response in cellular models of Parkinson's disease
-
Ryu, E.J., Harding, H.P., Angelastro, J.M., Vitolo, O.V., Ron, D., Greene, L.A., 2002. Endoplasmic reticulum stress and the unfolded protein response in cellular models of Parkinson's disease. J. Neurosci. 22, 10690-10698.
-
(2002)
J. Neurosci.
, vol.22
, pp. 10690-10698
-
-
Ryu, E.J.1
Harding, H.P.2
Angelastro, J.M.3
Vitolo, O.V.4
Ron, D.5
Greene, L.A.6
-
77
-
-
8744241623
-
2R43Q) impairs cell surface expression of αβγ receptors
-
2R43Q) impairs cell surface expression of αβγ receptors. J. Biol. Chem. 279, 47034-47039.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 47034-47039
-
-
Sancar, F.1
Czajkowski, C.2
-
78
-
-
0036754304
-
Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly
-
Sarto, I., Wabnegger, L., Dogl, E., Sieghart, W., 2002. Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. Neuropharmacology 43, 482-491.
-
(2002)
Neuropharmacology
, vol.43
, pp. 482-491
-
-
Sarto, I.1
Wabnegger, L.2
Dogl, E.3
Sieghart, W.4
-
79
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. genetic disorder with heterogeneous clinical phenotypes
-
Scheffer, I.E., Berkovic, S.F., 1997. Generalized epilepsy with febrile seizures plus.Agenetic disorder with heterogeneous clinical phenotypes. Brain 120, 479-490.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
80
-
-
0032542232
-
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
-
Schroeder, B.C.,Kubisch, C., Stein,V., Jentsch, T.J., 1998. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature 396, 687-690.
-
(1998)
Nature
, vol.396
, pp. 687-690
-
-
Schroeder, B.C.1
Kubisch, C.2
Stein, V.3
Jentsch, T.J.4
-
81
-
-
0034607698
-
Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy
-
Schwake, M., Pusch, M., Kharkovets, T., Jentsch, T.J., 2000. Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. J. Biol. Chem. 275, 13343-13348.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 13343-13348
-
-
Schwake, M.1
Pusch, M.2
Kharkovets, T.3
Jentsch, T.J.4
-
82
-
-
0033568873
-
Two types of K+ channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell
-
Selyanko, A.A., Hadley, J.K., Wood, I.C., Abogadie, F.C., Delmas, P., Buckley, N.J., London, B., Brown, D.A., 1999. Two types of K+ channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell. J. Neurosci. 19, 7742-7756.
-
(1999)
J. Neurosci.
, vol.19
, pp. 7742-7756
-
-
Selyanko, A.A.1
Hadley, J.K.2
Wood, I.C.3
Abogadie, F.C.4
Delmas, P.5
Buckley, N.J.6
London, B.7
Brown, D.A.8
-
83
-
-
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., 1998. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18, 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
-
84
-
-
0344012023
-
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum
-
Singh, N.A.,Westenskow, P., Charlier, C., Pappas, C., Leslie, J., Dillon, J., Anderson, V.E., Sanguinetti, M.C., Leppert, M.F., 2003. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 126, 2726-2737.
-
(2003)
Brain
, vol.126
, pp. 2726-2737
-
-
Singh, N.A.1
Westenskow, P.2
Charlier, C.3
Pappas, C.4
Leslie, J.5
Dillon, J.6
Anderson, V.E.7
Sanguinetti, M.C.8
Leppert, M.F.9
-
85
-
-
0034850563
-
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
-
Singh, R., Andermann, E., Whitehouse, W.P., Harvey, A.S., Keene, D.L., Seni, M.H., Crossland, K.M., Andermann, F., Berkovic, S.F., Scheffer, I.E., 2001. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 42, 837-844.
-
(2001)
Epilepsia
, vol.42
, pp. 837-844
-
-
Singh, R.1
Andermann, E.2
Whitehouse, W.P.3
Harvey, A.S.4
Keene, D.L.5
Seni, M.H.6
Crossland, K.M.7
Andermann, F.8
Berkovic, S.F.9
Scheffer, I.E.10
-
86
-
-
0030916583
-
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein, O.K., Magnusson, A., Stoodt, J., Bertrand, S.,Weiland, S., Berkovic, S.F., Nakken, K.O., Propping, P., Bertrand, D., 1997. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Mol. Genet. 6, 943-947.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 943-947
-
-
Steinlein, O.K.1
Magnusson, A.2
Stoodt, J.3
Bertrand, S.4
Weiland, S.5
Berkovic, S.F.6
Nakken, K.O.7
Propping, P.8
Bertrand, D.9
-
87
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 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., 1995. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11, 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
-
88
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara, T., Mazaki-Miyazaki, E., Fukushima, K., Shimomura, J., Fujiwara, T., Hamano, S., Inoue, Y., Yamakawa, K., 2002. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58, 1122-1124.
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
Hamano, S.6
Inoue, Y.7
Yamakawa, K.8
-
89
-
-
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., 2001a. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 57, 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
-
90
-
-
14344277590
-
A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
-
Sugawara, T., Tsurubuchi, Y., Agarwala, K.L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K.,Wada, K., Mitsudome, A., Kaneko, S., Montal, M., Nagata, K., Hirose, S., Yamakawa, K., 2001b. A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. U.S.A. 98, 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
-
91
-
-
0038771150
-
Nav1.1channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
-
Sugawara, T., Tsurubuchi, Y., Fujiwara, T., Mazaki-Miyazaki, E., Nagata, K., Montal, M., Inoue, Y., Yamakawa, K., 2003. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res. 54, 201-207.
-
(2003)
Epilepsy Res.
, vol.54
, pp. 201-207
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Fujiwara, T.3
Mazaki-Miyazaki, E.4
Nagata, K.5
Montal, M.6
Inoue, Y.7
Yamakawa, K.8
-
92
-
-
0033179652
-
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population
-
Tenchini, M.L., Duga, S., Bonati, M.T., Asselta, R., Oldani, A., Zucconi, M., Malcovati, M., Dalpra, L., Ferini-Strambi, L., 1999. SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. Sleep 22, 637-639.
-
(1999)
Sleep
, vol.22
, pp. 637-639
-
-
Tenchini, M.L.1
Duga, S.2
Bonati, M.T.3
Asselta, R.4
Oldani, A.5
Zucconi, M.6
Malcovati, M.7
Dalpra, L.8
Ferini-Strambi, L.9
-
93
-
-
0031768841
-
The KCNQ2 potassium channel: splice variants, functional and developmental expression
-
Tinel, N., Lauritzen, I., Chouabe, C., Lazdunski, M., Borsotto, M., 1998. The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. FEBS Lett. 438, 171-176.
-
(1998)
Brain localization and comparison with KCNQ3. FEBS Lett.
, vol.438
, pp. 171-176
-
-
Tinel, N.1
Lauritzen, I.2
Chouabe, C.3
Lazdunski, M.4
Borsotto, M.5
-
94
-
-
0042384619
-
Sodium channel α1- subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
-
Wallace, R.H., Hodgson, B.L., Grinton, B.E., Gardiner, R.M., Robinson, R., Rodriguez-Casero, V., Sadleir, L., Morgan, J., Harkin, L.A., Dibbens, L.M., Yamamoto, T., Andermann, E., Mulley, J.C., Berkovic, S.F., Scheffer, I.E., 2003. Sodium channel α1- subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 61, 765-769.
-
(2003)
Neurology
, vol.61
, pp. 765-769
-
-
Wallace, R.H.1
Hodgson, B.L.2
Grinton, B.E.3
Gardiner, R.M.4
Robinson, R.5
Rodriguez-Casero, V.6
Sadleir, L.7
Morgan, J.8
Harkin, L.A.9
Dibbens, L.M.10
Yamamoto, T.11
Andermann, E.12
Mulley, J.C.13
Berkovic, S.F.14
Scheffer, I.E.15
-
95
-
-
0035033520
-
2- subunit in childhood absence epilepsy and febrile seizures
-
2- subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28, 49-52.
-
(2001)
Nat. Genet.
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
Harkin, L.A.4
Bowser, D.N.5
Panchal, R.G.6
Williams, D.A.7
Sutherland, G.R.8
Mulley, J.C.9
Scheffer, I.E.10
Berkovic, S.F.11
-
96
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channelβ1 subunit gene SCN1B
-
Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George Jr., A.L., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F., Mulley, J.C., 1998. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channelβ1 subunit gene SCN1B. Nat. Genet. 19, 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 Jr., A.L.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
-
97
-
-
0032483972
-
KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel
-
Wang, H.S., Pan, Z., Shi,W., Brown, B.S.,Wymore, R.S., Cohen, I.S., Dixon, J.E., McKinnon, D., 1998. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 282, 1890-1893.
-
(1998)
Science
, vol.282
, pp. 1890-1893
-
-
Wang, H.S.1
Pan, Z.2
Shi, W.3
Brown, B.S.4
Wymore, R.S.5
Cohen, I.S.6
Dixon, J.E.7
McKinnon, D.8
-
98
-
-
0030602149
-
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
-
Weiland, S., Witzemann, V., Villarroel, A., Propping, P., Steinlein, O., 1996. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett. 398, 91- 96.
-
(1996)
FEBS Lett.
, vol.398
-
-
Weiland, S.1
Witzemann, V.2
Villarroel, A.3
Propping, P.4
Steinlein, O.5
-
99
-
-
13244271276
-
Epilepsy and sodium channel gene mutations: gain or loss of function?
-
Yamakawa, K., 2005. Epilepsy and sodium channel gene mutations: gain or loss of function? Neuroreport 16, 1-3.
-
(2005)
Neuroreport
, vol.16
, pp. 1-3
-
-
Yamakawa, K.1
-
100
-
-
0032584595
-
Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
-
Yang, W.P., Levesque, P.C., Little, W.A., Conder, M.L., Ramakrishnan, P., Neubauer, M.G., Blanar, M.A., 1998. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J. Biol. Chem. 273, 19419-19423.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 19419-19423
-
-
Yang, W.P.1
Levesque, P.C.2
Little, W.A.3
Conder, M.L.4
Ramakrishnan, P.5
Neubauer, M.G.6
Blanar, M.A.7
-
101
-
-
0032895470
-
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
-
Zuberi, S.M., Eunson, L.H., Spauschus, A., De Silva, R., Tolmie, J., Wood, N.W., McWilliam, R.C., Stephenson, J.P., Kullmann, D.M., Hanna, M.G., 1999. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122, 817-825.
-
(1999)
Brain
, vol.122
, pp. 817-825
-
-
Zuberi, S.M.1
Eunson, L.H.2
Spauschus, A.3
De Silva, R.4
Tolmie, J.5
Wood, N.W.6
McWilliam, R.C.7
Stephenson, J.P.8
Kullmann, D.M.9
Hanna, M.G.10
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