-
1
-
-
58249113980
-
Mammalian nicotinic acetylcholine receptors: from structure to function
-
Albuquerque E.X., Pereira E.F., Alkondon M., Rogers S.W. Mammalian nicotinic acetylcholine receptors: from structure to function. Physiol. Rev. 2009, 89:73-120.
-
(2009)
Physiol. Rev.
, vol.89
, pp. 73-120
-
-
Albuquerque, E.X.1
Pereira, E.F.2
Alkondon, M.3
Rogers, S.W.4
-
2
-
-
0037161246
-
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
-
Bendahhou S., Cummins T.R., Kula R.W., Fu Y.H., Ptácek L.J. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology 2002, 58:1266-1272.
-
(2002)
Neurology
, vol.58
, pp. 1266-1272
-
-
Bendahhou, S.1
Cummins, T.R.2
Kula, R.W.3
Fu, Y.H.4
Ptácek, L.J.5
-
3
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., Steinlein O.K. A potassium channel mutation in neonatal human epilepsy. Science 1998, 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
-
4
-
-
65649112786
-
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
-
Bockenhauer D., Feather S., Stanescu H.C., Bandulik S., Zdebik A.A., Reichold M., Tobin J., Lieberer E., Sterner C., Landoure G., et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N. Engl. J. Med. 2009, 360:1960-1970.
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 1960-1970
-
-
Bockenhauer, D.1
Feather, S.2
Stanescu, H.C.3
Bandulik, S.4
Zdebik, A.A.5
Reichold, M.6
Tobin, J.7
Lieberer, E.8
Sterner, C.9
Landoure, G.10
-
5
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne D.L., Gancher S.T., Nutt J.G., Brunt E.R., Smith E.A., Kramer P., Litt M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 1994, 8:136-140.
-
(1994)
Nat. Genet.
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
Brunt, E.R.4
Smith, E.A.5
Kramer, P.6
Litt, M.7
-
6
-
-
0032801833
-
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
-
Bulman D.E., Scoggan K.A., van Oene M.D., Nicolle M.W., Hahn A.F., Tollar L.L., Ebers G.C. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999, 53:1932-1936.
-
(1999)
Neurology
, vol.53
, pp. 1932-1936
-
-
Bulman, D.E.1
Scoggan, K.A.2
van Oene, M.D.3
Nicolle, M.W.4
Hahn, A.F.5
Tollar, L.L.6
Ebers, G.C.7
-
7
-
-
77952553671
-
Genetics and cardiac channelopathies
-
Campuzano O., Beltrán-Alvarez P., Iglesias A., Scornik F., Pérez G., Brugada R. Genetics and cardiac channelopathies. Genet. Med. 2010, 12:260-267.
-
(2010)
Genet. Med.
, vol.12
, pp. 260-267
-
-
Campuzano, O.1
Beltrán-Alvarez, P.2
Iglesias, A.3
Scornik, F.4
Pérez, G.5
Brugada, R.6
-
8
-
-
0027236264
-
Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels
-
Cannon S.C., Brown R.H., Corey D.P. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys. J. 1993, 65:270-288.
-
(1993)
Biophys. J.
, vol.65
, pp. 270-288
-
-
Cannon, S.C.1
Brown, R.H.2
Corey, D.P.3
-
9
-
-
77956996917
-
Ion channel voltage sensors: structure, function, and pathophysiology
-
Catterall W.A. Ion channel voltage sensors: structure, function, and pathophysiology. Neuron 2010, 67:915-928.
-
(2010)
Neuron
, vol.67
, pp. 915-928
-
-
Catterall, W.A.1
-
10
-
-
29844438166
-
International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels
-
Catterall W.A., Goldin A.L., Waxman S.G. International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. Pharmacol. Rev. 2005, 57:397-409.
-
(2005)
Pharmacol. Rev.
, vol.57
, pp. 397-409
-
-
Catterall, W.A.1
Goldin, A.L.2
Waxman, S.G.3
-
11
-
-
29844439240
-
International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels
-
Catterall W.A., Perez-Reyes E., Snutch T.P., Striessnig J. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. Pharmacol. Rev. 2005, 57:411-425.
-
(2005)
Pharmacol. Rev.
, vol.57
, pp. 411-425
-
-
Catterall, W.A.1
Perez-Reyes, E.2
Snutch, T.P.3
Striessnig, J.4
-
13
-
-
49049116168
-
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel
-
Cestèle S., Scalmani P., Rusconi R., Terragni B., Franceschetti S., Mantegazza M. Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. J. Neurosci. 2008, 28:7273-7283.
-
(2008)
J. Neurosci.
, vol.28
, pp. 7273-7283
-
-
Cestèle, S.1
Scalmani, P.2
Rusconi, R.3
Terragni, B.4
Franceschetti, S.5
Mantegazza, M.6
-
14
-
-
77953016018
-
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia
-
Choi J.S., Cheng X., Foster E., Leffler A., Tyrrell L., Te Morsche R.H., Eastman E.M., Jansen H.J., Huehne K., Nau C., et al. Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. Brain 2010, 133:1823-1835.
-
(2010)
Brain
, vol.133
, pp. 1823-1835
-
-
Choi, J.S.1
Cheng, X.2
Foster, E.3
Leffler, A.4
Tyrrell, L.5
Te Morsche, R.H.6
Eastman, E.M.7
Jansen, H.J.8
Huehne, K.9
Nau, C.10
-
15
-
-
33845901486
-
An SCN9A channelopathy causes congenital inability to experience pain
-
Cox J.J., Reimann F., Nicholas A.K., Thornton G., Roberts E., Springell K., Karbani G., Jafri H., Mannan J., Raashid Y., et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006, 444:894-898.
-
(2006)
Nature
, vol.444
, pp. 894-898
-
-
Cox, J.J.1
Reimann, F.2
Nicholas, A.K.3
Thornton, G.4
Roberts, E.5
Springell, K.6
Karbani, G.7
Jafri, H.8
Mannan, J.9
Raashid, Y.10
-
16
-
-
0025021977
-
Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family
-
de Silva S.M., Kuncl R.W., Griffin J.W., Cornblath D.R., Chavoustie S. Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve 1990, 13:21-26.
-
(1990)
Muscle Nerve
, vol.13
, pp. 21-26
-
-
de Silva, S.M.1
Kuncl, R.W.2
Griffin, J.W.3
Cornblath, D.R.4
Chavoustie, S.5
-
17
-
-
23444443202
-
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons
-
Dib-Hajj S.D., Rush A.M., Cummins T.R., Hisama F.M., Novella S., Tyrrell L., Marshall L., Waxman S.G. Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain 2005, 128:1847-1854.
-
(2005)
Brain
, vol.128
, pp. 1847-1854
-
-
Dib-Hajj, S.D.1
Rush, A.M.2
Cummins, T.R.3
Hisama, F.M.4
Novella, S.5
Tyrrell, L.6
Marshall, L.7
Waxman, S.G.8
-
18
-
-
2442682788
-
Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity
-
Donaldson M.R., Yoon G., Fu Y.H., Ptacek L.J. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann. Med. 2004, 36(Suppl 1):92-97.
-
(2004)
Ann. Med.
, vol.36
, Issue.SUPPL 1
, pp. 92-97
-
-
Donaldson, M.R.1
Yoon, G.2
Fu, Y.H.3
Ptacek, L.J.4
-
19
-
-
22844445484
-
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
-
Du W., Bautista J.F., Yang H., Diez-Sampedro A., You S.A., Wang L., Kotagal P., Lüders H.O., Shi J., Cui J., et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat. Genet. 2005, 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
Lüders, H.O.8
Shi, J.9
Cui, J.10
-
20
-
-
77951782126
-
Chloride channels: often enigmatic, rarely predictable
-
Duran C., Thompson C.H., Xiao Q., Hartzell H.C. Chloride channels: often enigmatic, rarely predictable. Annu. Rev. Physiol. 2010, 72:95-121.
-
(2010)
Annu. Rev. Physiol.
, vol.72
, pp. 95-121
-
-
Duran, C.1
Thompson, C.H.2
Xiao, Q.3
Hartzell, H.C.4
-
21
-
-
0037418859
-
Gating the selectivity filter in ClC chloride channels
-
Dutzler R., Campbell E.B., MacKinnon R. Gating the selectivity filter in ClC chloride channels. Science 2003, 300:108-112.
-
(2003)
Science
, vol.300
, pp. 108-112
-
-
Dutzler, R.1
Campbell, E.B.2
MacKinnon, R.3
-
22
-
-
75049083573
-
What have we learned from the congenital myasthenic syndromes
-
Engel A.G., Shen X.M., Selcen D., Sine S.M. What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci. 2010, 40:143-153.
-
(2010)
J. Mol. Neurosci.
, vol.40
, pp. 143-153
-
-
Engel, A.G.1
Shen, X.M.2
Selcen, D.3
Sine, S.M.4
-
23
-
-
33847168937
-
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes
-
Fertleman C.R., Baker M.D., Parker K.A., Moffatt S., Elmslie F.V., Abrahamsen B., Ostman J., Klugbauer N., Wood J.N., Gardiner R.M., Rees M. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron 2006, 52:767-774.
-
(2006)
Neuron
, vol.52
, pp. 767-774
-
-
Fertleman, C.R.1
Baker, M.D.2
Parker, K.A.3
Moffatt, S.4
Elmslie, F.V.5
Abrahamsen, B.6
Ostman, J.7
Klugbauer, N.8
Wood, J.N.9
Gardiner, R.M.10
Rees, M.11
-
24
-
-
34548446384
-
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)
-
Fertleman C.R., Ferrie C.D., Aicardi J., Bednarek N.A., Eeg-Olofsson O., Elmslie F.V., Griesemer D.A., Goutières F., Kirkpatrick M., Malmros I.N., et al. Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurology 2007, 69:586-595.
-
(2007)
Neurology
, vol.69
, pp. 586-595
-
-
Fertleman, C.R.1
Ferrie, C.D.2
Aicardi, J.3
Bednarek, N.A.4
Eeg-Olofsson, O.5
Elmslie, F.V.6
Griesemer, D.A.7
Goutières, F.8
Kirkpatrick, M.9
Malmros, I.N.10
-
25
-
-
70349757127
-
Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M
-
Finsterer J. Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M. Neurologist 2009, 15:289-290.
-
(2009)
Neurologist
, vol.15
, pp. 289-290
-
-
Finsterer, J.1
-
26
-
-
77949896163
-
Familial pain syndromes from mutations of the NaV1.7 sodium channel
-
Fischer T.Z., Waxman S.G. Familial pain syndromes from mutations of the NaV1.7 sodium channel. Ann. N Y Acad. Sci. 2010, 1184:196-207.
-
(2010)
Ann. N Y Acad. Sci.
, vol.1184
, pp. 196-207
-
-
Fischer, T.Z.1
Waxman, S.G.2
-
27
-
-
77649259534
-
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy
-
Fukata Y., Lovero K.L., Iwanaga T., Watanabe A., Yokoi N., Tabuchi K., Shigemoto R., Nicoll R.A., Fukata M. Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. Proc. Natl. Acad. Sci. USA 2010, 107:3799-3804.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 3799-3804
-
-
Fukata, Y.1
Lovero, K.L.2
Iwanaga, T.3
Watanabe, A.4
Yokoi, N.5
Tabuchi, K.6
Shigemoto, R.7
Nicoll, R.A.8
Fukata, M.9
-
28
-
-
0018183837
-
The pathophysiology of myotonia produced by aromatic carboxylic acids
-
Furman R.E., Barchi R.L. The pathophysiology of myotonia produced by aromatic carboxylic acids. Ann. Neurol. 1978, 4:357-365.
-
(1978)
Ann. Neurol.
, vol.4
, pp. 357-365
-
-
Furman, R.E.1
Barchi, R.L.2
-
29
-
-
0142155237
-
Rasmussen's syndrome
-
Granata T. Rasmussen's syndrome. Neurol. Sci. 2003, 24(Suppl 4):S239-S243.
-
(2003)
Neurol. Sci.
, vol.24
, Issue.SUPPL 4
-
-
Granata, T.1
-
30
-
-
29844437655
-
International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels
-
Gutman G.A., Chandy K.G., Grissmer S., Lazdunski M., McKinnon D., Pardo L.A., Robertson G.A., Rudy B., Sanguinetti M.C., Stühmer W., Wang X. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. Pharmacol. Rev. 2005, 57:473-508.
-
(2005)
Pharmacol. Rev.
, vol.57
, pp. 473-508
-
-
Gutman, G.A.1
Chandy, K.G.2
Grissmer, S.3
Lazdunski, M.4
McKinnon, D.5
Pardo, L.A.6
Robertson, G.A.7
Rudy, B.8
Sanguinetti, M.C.9
Stühmer, W.10
Wang, X.11
-
31
-
-
0033103648
-
Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine
-
Hans M., Luvisetto S., Williams M.E., Spagnolo M., Urrutia A., Tottene A., Brust P.F., Johnson E.C., Harpold M.M., Stauderman K.A., Pietrobon D. Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J. Neurosci. 1999, 19:1610-1619.
-
(1999)
J. Neurosci.
, vol.19
, pp. 1610-1619
-
-
Hans, M.1
Luvisetto, S.2
Williams, M.E.3
Spagnolo, M.4
Urrutia, A.5
Tottene, A.6
Brust, P.F.7
Johnson, E.C.8
Harpold, M.M.9
Stauderman, K.A.10
Pietrobon, D.11
-
32
-
-
49849098981
-
The genetics of hyperekplexia: More than startle!
-
Harvey R.J., Topf M., Harvey K., Rees M.I. The genetics of hyperekplexia: More than startle!. Trends Genet. 2008, 24:439-447.
-
(2008)
Trends Genet.
, vol.24
, pp. 439-447
-
-
Harvey, R.J.1
Topf, M.2
Harvey, K.3
Rees, M.I.4
-
34
-
-
0027237778
-
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
-
Heine R., Pika U., Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Mol. Genet. 1993, 2:1349-1353.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1349-1353
-
-
Heine, R.1
Pika, U.2
Lehmann-Horn, F.3
-
36
-
-
14944384270
-
Genetics of idiopathic epilepsies
-
Epilepsy Genetic Study Group, Japan
-
Hirose S., Mitsudome A., Okada M., Kaneko S. Genetics of idiopathic epilepsies. Epilepsia 2005, 46(Suppl 1):38-43. Epilepsy Genetic Study Group, Japan.
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL 1
, pp. 38-43
-
-
Hirose, S.1
Mitsudome, A.2
Okada, M.3
Kaneko, S.4
-
37
-
-
0032769095
-
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
-
Ishikawa K., Fujigasaki H., Saegusa H., Ohwada K., Fujita T., Iwamoto H., Komatsuzaki Y., Toru S., Toriyama H., Watanabe M., et al. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum. Mol. Genet. 1999, 8:1185-1193.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1185-1193
-
-
Ishikawa, K.1
Fujigasaki, H.2
Saegusa, H.3
Ohwada, K.4
Fujita, T.5
Iwamoto, H.6
Komatsuzaki, Y.7
Toru, S.8
Toriyama, H.9
Watanabe, M.10
-
38
-
-
34848869371
-
Primary episodic ataxias: diagnosis, pathogenesis and treatment
-
CINCH investigators
-
Jen J.C., Graves T.D., Hess E.J., Hanna M.G., Griggs R.C., Baloh R.W. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007, 130:2484-2493. CINCH investigators.
-
(2007)
Brain
, vol.130
, pp. 2484-2493
-
-
Jen, J.C.1
Graves, T.D.2
Hess, E.J.3
Hanna, M.G.4
Griggs, R.C.5
Baloh, R.W.6
-
39
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat-Rott K., Lehmann-Horn F., Elbaz A., Heine R., Gregg R.G., Hogan K., Powers P.A., Lapie P., Vale-Santos J.E., Weissenbach J., et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum. Mol. Genet. 1994, 3:1415-1419.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
Heine, R.4
Gregg, R.G.5
Hogan, K.6
Powers, P.A.7
Lapie, P.8
Vale-Santos, J.E.9
Weissenbach, J.10
-
40
-
-
62649111494
-
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks
-
Jurkat-Rott K., Weber M.A., Fauler M., Guo X.H., Holzherr B.D., Paczulla A., Nordsborg N., Joechle W., Lehmann-Horn F. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. Proc. Natl. Acad. Sci. USA 2009, 106:4036-4041.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 4036-4041
-
-
Jurkat-Rott, K.1
Weber, M.A.2
Fauler, M.3
Guo, X.H.4
Holzherr, B.D.5
Paczulla, A.6
Nordsborg, N.7
Joechle, W.8
Lehmann-Horn, F.9
-
41
-
-
35348904490
-
Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy
-
Kalume F., Yu F.H., Westenbroek R.E., Scheuer T., Catterall W.A. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J. Neurosci. 2007, 27:11065-11074.
-
(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
-
42
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., Zoll B., Lehmann-Horn F., Grzeschik K.H., Jentsch T.J. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992, 257:797-800.
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
Steinmeyer, K.2
Lorenz, C.3
Ricker, K.4
Wolf, F.5
Otto, M.6
Zoll, B.7
Lehmann-Horn, F.8
Grzeschik, K.H.9
Jentsch, T.J.10
-
43
-
-
29844450489
-
International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels
-
Kubo Y., Adelman J.P., Clapham D.E., Jan L.Y., Karschin A., Kurachi Y., Lazdunski M., Nichols C.G., Seino S., Vandenberg C.A. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. Pharmacol. Rev. 2005, 57:509-526.
-
(2005)
Pharmacol. Rev.
, vol.57
, pp. 509-526
-
-
Kubo, Y.1
Adelman, J.P.2
Clapham, D.E.3
Jan, L.Y.4
Karschin, A.5
Kurachi, Y.6
Lazdunski, M.7
Nichols, C.G.8
Seino, S.9
Vandenberg, C.A.10
-
44
-
-
65749120107
-
Autoimmune disorders of the neuromuscular junction
-
Lang B., Vincent A. Autoimmune disorders of the neuromuscular junction. Curr. Opin. Pharmacol. 2009, 9:336-340.
-
(2009)
Curr. Opin. Pharmacol.
, vol.9
, pp. 336-340
-
-
Lang, B.1
Vincent, A.2
-
45
-
-
19944407549
-
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
-
Lee H.Y., Xu Y., Huang Y., Ahn A.H., Auburger G.W., Pandolfo M., Kwiecinski H., Grimes D.A., Lang A.E., Nielsen J.E., et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 2004, 13:3161-3170.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 3161-3170
-
-
Lee, H.Y.1
Xu, Y.2
Huang, Y.3
Ahn, A.H.4
Auburger, G.W.5
Pandolfo, M.6
Kwiecinski, H.7
Grimes, D.A.8
Lang, A.E.9
Nielsen, J.E.10
-
46
-
-
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., et al. A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann. Neurol. 1999, 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
-
48
-
-
4644265039
-
Molecular structure and function of the glycine receptor chloride channel
-
Lynch J.W. Molecular structure and function of the glycine receptor chloride channel. Physiol. Rev. 2004, 84:1051-1095.
-
(2004)
Physiol. Rev.
, vol.84
, pp. 1051-1095
-
-
Lynch, J.W.1
-
49
-
-
0036791046
-
Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures
-
Mantegazza R., Bernasconi P., Baggi F., Spreafico R., Ragona F., Antozzi C., Bernardi G., Granata T. Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures. J. Neuroimmunol. 2002, 131:179-185.
-
(2002)
J. Neuroimmunol.
, vol.131
, pp. 179-185
-
-
Mantegazza, R.1
Bernasconi, P.2
Baggi, F.3
Spreafico, R.4
Ragona, F.5
Antozzi, C.6
Bernardi, G.7
Granata, T.8
-
50
-
-
34548688700
-
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy
-
Marini C., Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem. Pharmacol. 2007, 74:1308-1314.
-
(2007)
Biochem. Pharmacol.
, vol.74
, pp. 1308-1314
-
-
Marini, C.1
Guerrini, R.2
-
51
-
-
56549129626
-
Epidemiology and biology of menstrual migraine
-
Martin V.T., Lipton R.B. Epidemiology and biology of menstrual migraine. Headache 2008, 48(Suppl 3):S124-S130.
-
(2008)
Headache
, vol.48
, Issue.SUPPL 3
-
-
Martin, V.T.1
Lipton, R.B.2
-
52
-
-
77951248599
-
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities
-
Martin M.S., Dutt K., Papale L.A., Dubé C.M., Dutton S.B., de Haan G., Shankar A., Tufik S., Meisler M.H., Baram T.Z., et al. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J. Biol. Chem. 2010, 285:9823-9834.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 9823-9834
-
-
Martin, M.S.1
Dutt, K.2
Papale, L.A.3
Dubé, C.M.4
Dutton, S.B.5
de Haan, G.6
Shankar, A.7
Tufik, S.8
Meisler, M.H.9
Baram, T.Z.10
-
53
-
-
0026516209
-
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
-
McClatchey A.I., Van den Bergh P., Pericak-Vance M.A., Raskind W., Verellen C., McKenna-Yasek D., Rao K., Haines J.L., Bird T., Brown R.H., et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992, 68:769-774.
-
(1992)
Cell
, vol.68
, pp. 769-774
-
-
McClatchey, A.I.1
Van den Bergh, P.2
Pericak-Vance, M.A.3
Raskind, W.4
Verellen, C.5
McKenna-Yasek, D.6
Rao, K.7
Haines, J.L.8
Bird, T.9
Brown, R.H.10
-
54
-
-
1642267233
-
The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells
-
Melliti K., Grabner M., Seabrook G.R. The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells. J. Physiol. 2003, 546:337-347.
-
(2003)
J. Physiol.
, vol.546
, pp. 337-347
-
-
Melliti, K.1
Grabner, M.2
Seabrook, G.R.3
-
55
-
-
67749110057
-
The monogenic primary dystonias
-
Müller U. The monogenic primary dystonias. Brain 2009, 132:2005-2025.
-
(2009)
Brain
, vol.132
, pp. 2005-2025
-
-
Müller, U.1
-
56
-
-
64449085161
-
Progress in searching for the febrile seizure susceptibility genes
-
Nakayama J. Progress in searching for the febrile seizure susceptibility genes. Brain Dev. 2009, 31:359-365.
-
(2009)
Brain Dev.
, vol.31
, pp. 359-365
-
-
Nakayama, J.1
-
57
-
-
0036828830
-
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
-
Nakayama J., Fu Y.H., Clark A.M., Nakahara S., Hamano K., Iwasaki N., Matsui A., Arinami T., Ptácek L.J. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann. Neurol. 2002, 52:654-657.
-
(2002)
Ann. Neurol.
, vol.52
, pp. 654-657
-
-
Nakayama, J.1
Fu, Y.H.2
Clark, A.M.3
Nakahara, S.4
Hamano, K.5
Iwasaki, N.6
Matsui, A.7
Arinami, T.8
Ptácek, L.J.9
-
58
-
-
55749094503
-
Up-regulation of slow K(+) channels in peripheral motor axons: a transcriptional channelopathy in multiple sclerosis
-
Ng K., Howells J., Pollard J.D., Burke D. Up-regulation of slow K(+) channels in peripheral motor axons: a transcriptional channelopathy in multiple sclerosis. Brain 2008, 131:3062-3071.
-
(2008)
Brain
, vol.131
, pp. 3062-3071
-
-
Ng, K.1
Howells, J.2
Pollard, J.D.3
Burke, D.4
-
59
-
-
77956272138
-
Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2
-
Nissenbaum J., Devor M., Seltzer Z., Gebauer M., Michaelis M., Tal M., Dorfman R., Abitbul-Yarkoni M., Lu Y., Elahipanah T., et al. Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2. Genome Res. 2010, 20:1180-1190.
-
(2010)
Genome Res.
, vol.20
, pp. 1180-1190
-
-
Nissenbaum, J.1
Devor, M.2
Seltzer, Z.3
Gebauer, M.4
Michaelis, M.5
Tal, M.6
Dorfman, R.7
Abitbul-Yarkoni, M.8
Lu, Y.9
Elahipanah, T.10
-
60
-
-
63749094521
-
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy
-
Nobile C., Michelucci R., Andreazza S., Pasini E., Tosatto S.C., Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum. Mutat. 2009, 30:530-536.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 530-536
-
-
Nobile, C.1
Michelucci, R.2
Andreazza, S.3
Pasini, E.4
Tosatto, S.C.5
Striano, P.6
-
61
-
-
77954472370
-
Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine
-
Pietrobon D. Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine. J. Physiol. 2010, 588:1871-1878.
-
(2010)
J. Physiol.
, vol.588
, pp. 1871-1878
-
-
Pietrobon, D.1
-
62
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster N.M., Tawil R., Tristani-Firouzi M., Canún S., Bendahhou S., Tsunoda A., Donaldson M.R., Iannaccone S.T., Brunt E., Barohn R., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105:511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canún, S.4
Bendahhou, S.5
Tsunoda, A.6
Donaldson, M.R.7
Iannaccone, S.T.8
Brunt, E.9
Barohn, R.10
-
63
-
-
0025790174
-
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
-
Ptácek L.J., George A.L., Griggs R.C., Tawil R., Kallen R.G., Barchi R.L., Robertson M., Leppert M.F. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991, 67:1021-1027.
-
(1991)
Cell
, vol.67
, pp. 1021-1027
-
-
Ptácek, L.J.1
George, A.L.2
Griggs, R.C.3
Tawil, R.4
Kallen, R.G.5
Barchi, R.L.6
Robertson, M.7
Leppert, M.F.8
-
64
-
-
0026766904
-
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
-
Ptácek L.J., George A.L., Barchi R.L., Griggs R.C., Riggs J.E., Robertson M., Leppert M.F. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992, 8:891-897.
-
(1992)
Neuron
, vol.8
, pp. 891-897
-
-
Ptácek, L.J.1
George, A.L.2
Barchi, R.L.3
Griggs, R.C.4
Riggs, J.E.5
Robertson, M.6
Leppert, M.F.7
-
65
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptácek L.J., Tawil R., Griggs R.C., Engel A.G., Layzer R.B., Kwieciński H., McManis P.G., Santiago L., Moore M., Fouad G., et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994, 77:863-868.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptácek, L.J.1
Tawil, R.2
Griggs, R.C.3
Engel, A.G.4
Layzer, R.B.5
Kwieciński, H.6
McManis, P.G.7
Santiago, L.8
Moore, M.9
Fouad, G.10
-
66
-
-
77956290593
-
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
-
Reichold M., Zdebik A.A., Lieberer E., Rapedius M., Schmidt K., Bandulik S., Sterner C., Tegtmeier I., Penton D., Baukrowitz T., et al. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc. Natl. Acad. Sci. USA 2010, 107:14490-14495.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 14490-14495
-
-
Reichold, M.1
Zdebik, A.A.2
Lieberer, E.3
Rapedius, M.4
Schmidt, K.5
Bandulik, S.6
Sterner, C.7
Tegtmeier, I.8
Penton, D.9
Baukrowitz, T.10
-
67
-
-
77950429077
-
Pain perception is altered by a nucleotide polymorphism in SCN9A
-
Reimann F., Cox J.J., Belfer I., Diatchenko L., Zaykin D.V., McHale D.P., Drenth J.P., Dai F., Wheeler J., Sanders F., et al. Pain perception is altered by a nucleotide polymorphism in SCN9A. Proc. Natl. Acad. Sci. USA 2010, 107:5148-5153.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 5148-5153
-
-
Reimann, F.1
Cox, J.J.2
Belfer, I.3
Diatchenko, L.4
Zaykin, D.V.5
McHale, D.P.6
Drenth, J.P.7
Dai, F.8
Wheeler, J.9
Sanders, F.10
-
68
-
-
0025932040
-
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis
-
Rojas C.V., Wang J.Z., Schwartz L.S., Hoffman E.P., Powell B.R., Brown R.H. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 1991, 354:387-389.
-
(1991)
Nature
, vol.354
, pp. 387-389
-
-
Rojas, C.V.1
Wang, J.Z.2
Schwartz, L.S.3
Hoffman, E.P.4
Powell, B.R.5
Brown, R.H.6
-
69
-
-
33744454923
-
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons
-
Rush A.M., Dib-Hajj S.D., Liu S., Cummins T.R., Black J.A., Waxman S.G. A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. Proc. Natl. Acad. Sci. USA 2006, 103:8245-8250.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 8245-8250
-
-
Rush, A.M.1
Dib-Hajj, S.D.2
Liu, S.3
Cummins, T.R.4
Black, J.A.5
Waxman, S.G.6
-
70
-
-
73349132366
-
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis
-
Ryan D.P., da Silva M.R., Soong T.W., Fontaine B., Donaldson M.R., Kung A.W., Jongjaroenprasert W., Liang M.C., Khoo D.H., Cheah J.S., et al. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell 2010, 140:88-98.
-
(2010)
Cell
, vol.140
, pp. 88-98
-
-
Ryan, D.P.1
da Silva, M.R.2
Soong, T.W.3
Fontaine, B.4
Donaldson, M.R.5
Kung, A.W.6
Jongjaroenprasert, W.7
Liang, M.C.8
Khoo, D.H.9
Cheah, J.S.10
-
71
-
-
65249156553
-
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
-
Scholl U.I., Choi M., Liu T., Ramaekers V.T., Häusler M.G., Grimmer J., Tobe S.W., Farhi A., Nelson-Williams C., Lifton R.P. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. USA 2009, 106:5842-5847.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 5842-5847
-
-
Scholl, U.I.1
Choi, M.2
Liu, T.3
Ramaekers, V.T.4
Häusler, M.G.5
Grimmer, J.6
Tobe, S.W.7
Farhi, A.8
Nelson-Williams, C.9
Lifton, R.P.10
-
72
-
-
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. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature 1998, 396:687-690.
-
(1998)
Nature
, vol.396
, pp. 687-690
-
-
Schroeder, B.C.1
Kubisch, C.2
Stein, V.3
Jentsch, T.J.4
-
73
-
-
33644853794
-
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome
-
Schwartz P.J., Spazzolini C., Crotti L., Bathen J., Amlie J.P., Timothy K., Shkolnikova M., Berul C.I., Bitner-Glindzicz M., Toivonen L., et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006, 113:783-790.
-
(2006)
Circulation
, vol.113
, pp. 783-790
-
-
Schwartz, P.J.1
Spazzolini, C.2
Crotti, L.3
Bathen, J.4
Amlie, J.P.5
Timothy, K.6
Shkolnikova, M.7
Berul, C.I.8
Bitner-Glindzicz, M.9
Toivonen, L.10
-
74
-
-
67649528147
-
The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition
-
Serra S.A., Fernàndez-Castillo N., Macaya A., Cormand B., Valverde M.A., Fernández-Fernández J.M. The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition. Pflugers Arch. 2009, 458:489-502.
-
(2009)
Pflugers Arch.
, vol.458
, pp. 489-502
-
-
Serra, S.A.1
Fernàndez-Castillo, N.2
Macaya, A.3
Cormand, B.4
Valverde, M.A.5
Fernández-Fernández, J.M.6
-
75
-
-
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., et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 1998, 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
-
76
-
-
0035974897
-
A novel gene causing a mendelian audiogenic mouse epilepsy
-
Skradski S.L., Clark A.M., Jiang H., White H.S., Fu Y.H., Ptácek L.J. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron 2001, 31:537-544.
-
(2001)
Neuron
, vol.31
, pp. 537-544
-
-
Skradski, S.L.1
Clark, A.M.2
Jiang, H.3
White, H.S.4
Fu, Y.H.5
Ptácek, L.J.6
-
77
-
-
33847344389
-
Gating pore current in an inherited ion channelopathy
-
Sokolov S., Scheuer T., Catterall W.A. Gating pore current in an inherited ion channelopathy. Nature 2007, 446:76-78.
-
(2007)
Nature
, vol.446
, pp. 76-78
-
-
Sokolov, S.1
Scheuer, T.2
Catterall, W.A.3
-
78
-
-
18544383162
-
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
-
Splawski I., Timothy K.W., Tateyama M., Clancy C.E., Malhotra A., Beggs A.H., Cappuccio F.P., Sagnella G.A., Kass R.S., Keating M.T. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002, 297:1333-1336.
-
(2002)
Science
, vol.297
, pp. 1333-1336
-
-
Splawski, I.1
Timothy, K.W.2
Tateyama, M.3
Clancy, C.E.4
Malhotra, A.5
Beggs, A.H.6
Cappuccio, F.P.7
Sagnella, G.A.8
Kass, R.S.9
Keating, M.T.10
-
79
-
-
5344223383
-
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski I., Timothy K.W., Sharpe L.M., Decher N., Kumar P., Bloise R., Napolitano C., Schwartz P.J., Joseph R.M., Condouris K., et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004, 119:19-31.
-
(2004)
Cell
, vol.119
, pp. 19-31
-
-
Splawski, I.1
Timothy, K.W.2
Sharpe, L.M.3
Decher, N.4
Kumar, P.5
Bloise, R.6
Napolitano, C.7
Schwartz, P.J.8
Joseph, R.M.9
Condouris, K.10
-
80
-
-
20444426877
-
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
-
8089-8096, discussion 8086-8088
-
Splawski I., Timothy K.W., Decher N., Kumar P., Sachse F.B., Beggs A.H., Sanguinetti M.C., Keating M.T. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Natl. Acad. Sci. USA 2005, 102:8089-8096, discussion 8086-8088.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
-
-
Splawski, I.1
Timothy, K.W.2
Decher, N.3
Kumar, P.4
Sachse, F.B.5
Beggs, A.H.6
Sanguinetti, M.C.7
Keating, M.T.8
-
81
-
-
21844441142
-
Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua
-
Takahashi Y., Mori H., Mishina M., Watanabe M., Kondo N., Shimomura J., Kubota Y., Matsuda K., Fukushima K., Shiroma N., et al. Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua. Epilepsia 2005, 46(Suppl 5):152-158.
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL 5
, pp. 152-158
-
-
Takahashi, Y.1
Mori, H.2
Mishina, M.3
Watanabe, M.4
Kondo, N.5
Shimomura, J.6
Kubota, Y.7
Matsuda, K.8
Fukushima, K.9
Shiroma, N.10
-
82
-
-
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., Hunter J., Tufik S., Yu F.H., Catterall W.A., Mantegazza M., et al. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Neurobiol. Dis. 2009, 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
Hunter, J.6
Tufik, S.7
Yu, F.H.8
Catterall, W.A.9
Mantegazza, M.10
-
83
-
-
61549136416
-
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice
-
Tottene A., Conti R., Fabbro A., Vecchia D., Shapovalova M., Santello M., van den Maagdenberg A.M., Ferrari M.D., Pietrobon D. Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice. Neuron 2009, 61:762-773.
-
(2009)
Neuron
, vol.61
, pp. 762-773
-
-
Tottene, A.1
Conti, R.2
Fabbro, A.3
Vecchia, D.4
Shapovalova, M.5
Santello, M.6
van den Maagdenberg, A.M.7
Ferrari, M.D.8
Pietrobon, D.9
-
84
-
-
77955579010
-
Kir 2.1 channelopathies: the Andersen-Tawil syndrome
-
Tristani-Firouzi M., Etheridge S.P. Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch. 2010, 460:289-294.
-
(2010)
Pflugers Arch.
, vol.460
, pp. 289-294
-
-
Tristani-Firouzi, M.1
Etheridge, S.P.2
-
85
-
-
21144442723
-
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics
-
Wan J., Khanna R., Sandusky M., Papazian D.M., Jen J.C., Baloh R.W. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology 2005, 64:2090-2097.
-
(2005)
Neurology
, vol.64
, pp. 2090-2097
-
-
Wan, J.1
Khanna, R.2
Sandusky, M.3
Papazian, D.M.4
Jen, J.C.5
Baloh, R.W.6
-
86
-
-
50149093030
-
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels
-
Watase K., Barrett C.F., Miyazaki T., Ishiguro T., Ishikawa K., Hu Y., Unno T., Sun Y., Kasai S., Watanabe M., et al. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc. Natl. Acad. Sci. USA 2008, 105:11987-11992.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 11987-11992
-
-
Watase, K.1
Barrett, C.F.2
Miyazaki, T.3
Ishiguro, T.4
Ishikawa, K.5
Hu, Y.6
Unno, T.7
Sun, Y.8
Kasai, S.9
Watanabe, M.10
-
87
-
-
0035462457
-
Transcriptional channelopathies: an emerging class of disorders
-
Waxman S.G. Transcriptional channelopathies: an emerging class of disorders. Nat. Rev. Neurosci. 2001, 2:652-659.
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, pp. 652-659
-
-
Waxman, S.G.1
-
88
-
-
56649086752
-
The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation
-
Weiss N., Sandoval A., Felix R., Van den Maagdenberg A., De Waard M. The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation. Pflugers Arch. 2008, 457:315-326.
-
(2008)
Pflugers Arch.
, vol.457
, pp. 315-326
-
-
Weiss, N.1
Sandoval, A.2
Felix, R.3
Van den Maagdenberg, A.4
De Waard, M.5
-
89
-
-
0035940571
-
GluR3 antibodies: prevalence in focal epilepsy but no specificity for Rasmussen's encephalitis
-
Wiendl H., Bien C.G., Bernasconi P., Fleckenstein B., Elger C.E., Dichgans J., Mantegazza R., Melms A. GluR3 antibodies: prevalence in focal epilepsy but no specificity for Rasmussen's encephalitis. Neurology 2001, 57:1511-1514.
-
(2001)
Neurology
, vol.57
, pp. 1511-1514
-
-
Wiendl, H.1
Bien, C.G.2
Bernasconi, P.3
Fleckenstein, B.4
Elger, C.E.5
Dichgans, J.6
Mantegazza, R.7
Melms, A.8
-
90
-
-
12144288410
-
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
-
Yang Y., Wang Y., Li S., Xu Z., Li H., Ma L., Fan J., Bu D., Liu B., Fan Z., et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J. Med. Genet. 2004, 41:171-174.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 171-174
-
-
Yang, Y.1
Wang, Y.2
Li, S.3
Xu, Z.4
Li, H.5
Ma, L.6
Fan, J.7
Bu, D.8
Liu, B.9
Fan, Z.10
-
91
-
-
32444450201
-
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype
-
Yoon G., Oberoi S., Tristani-Firouzi M., Etheridge S.P., Quitania L., Kramer J.H., Miller B.L., Fu Y.H., Ptácek L.J. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am. J. Med. Genet. A. 2006, 140:312-321.
-
(2006)
Am. J. Med. Genet. A.
, vol.140
, pp. 312-321
-
-
Yoon, G.1
Oberoi, S.2
Tristani-Firouzi, M.3
Etheridge, S.P.4
Quitania, L.5
Kramer, J.H.6
Miller, B.L.7
Fu, Y.H.8
Ptácek, L.J.9
-
92
-
-
33745653338
-
Andersen-Tawil syndrome: definition of a neurocognitive phenotype
-
Yoon G., Quitania L., Kramer J.H., Fu Y.H., Miller B.L., Ptácek L.J. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology 2006, 66:1703-1710.
-
(2006)
Neurology
, vol.66
, pp. 1703-1710
-
-
Yoon, G.1
Quitania, L.2
Kramer, J.H.3
Fu, Y.H.4
Miller, B.L.5
Ptácek, L.J.6
-
93
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
Yu F.H., Mantegazza M., Westenbroek R.E., Robbins C.A., Kalume F., Burton K.A., Spain W.J., McKnight G.S., Scheuer T., Catterall W.A. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat. Neurosci. 2006, 9:1142-1149.
-
(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
Burton, K.A.6
Spain, W.J.7
McKnight, G.S.8
Scheuer, T.9
Catterall, W.A.10
-
94
-
-
0032523120
-
Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency
-
Zerr P., Adelman J.P., Maylie J. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J. Neurosci. 1998, 18:2842-2848.
-
(1998)
J. Neurosci.
, vol.18
, pp. 2842-2848
-
-
Zerr, P.1
Adelman, J.P.2
Maylie, J.3
-
95
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O., Bailey J., Bonnen P., Ashizawa T., Stockton D.W., Amos C., Dobyns W.B., Subramony S.H., Zoghbi H.Y., Lee C.C. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat. Genet. 1997, 15:62-69.
-
(1997)
Nat. Genet.
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
|