-
1
-
-
0035882271
-
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells
-
Barclay J, Balaguero N, Mione M, Ackerman SL, Letts VA, Brodbeck J, et al. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci 2001; 21: 6095-104.
-
(2001)
J Neurosci
, vol.21
, pp. 6095-6104
-
-
Barclay, J.1
Balaguero, N.2
Mione, M.3
Ackerman, S.L.4
Letts, V.A.5
Brodbeck, J.6
-
2
-
-
0034985911
-
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
-
Baulac S, Picard F, Herman A, Feingold J, Genin F, Hirsch E, et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 2001; 49: 786-92.
-
(2001)
Ann Neurol
, vol.49
, pp. 786-792
-
-
Baulac, S.1
Picard, F.2
Herman, A.3
Feingold, J.4
Genin, F.5
Hirsch, E.6
-
3
-
-
0032884754
-
Single gene defects in mice: The role of voltage-dependent calcium channels in absence models
-
Burgess DL, Noebels JL. Single gene defects in mice: the role of voltage-dependent calcium channels in absence models. Epilepsy Res 1999; 36: 111-22.
-
(1999)
Epilepsy Res
, vol.36
, pp. 111-122
-
-
Burgess, D.L.1
Noebels, J.L.2
-
4
-
-
0032982275
-
Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(1h)) and tottering (Cacna 1 atg) mouse thalami
-
Caddick SJ, Wang C, Fletcher CF, Jenkins NA, Copeland NG, Horsford DA. Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(1h)) and tottering (Cacna 1 atg) mouse thalami. J Neurophysiol 1999; 81: 2066-74.
-
(1999)
J Neurophysiol
, vol.81
, pp. 2066-2074
-
-
Caddick, S.J.1
Wang, C.2
Fletcher, C.F.3
Jenkins, N.A.4
Copeland, N.G.5
Horsford, D.A.6
-
5
-
-
0032895055
-
L-type calcium channels contribute to the tottering mouse dystonic episodes
-
Campbell DB, Hess EJ. L-type calcium channels contribute to the tottering mouse dystonic episodes. Mol Pharmacol 1999; 55: 23-31.
-
(1999)
Mol Pharmacol
, vol.55
, pp. 23-31
-
-
Campbell, D.B.1
Hess, E.J.2
-
7
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998; 18: 53-5.
-
(1998)
Nat Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
Lewis, T.B.4
Reus, B.E.5
Leach, R.J.6
-
8
-
-
0041343159
-
Association between genetic variation of CACNA1H and childhood absence epilepsy
-
Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 2003; 54: 239-43.
-
(2003)
Ann Neurol
, vol.54
, pp. 239-243
-
-
Chen, Y.1
Lu, J.2
Pan, H.3
Zhang, Y.4
Wu, H.5
Xu, K.6
-
9
-
-
0035826838
-
Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy
-
Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, et al. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 2001; 56: 1245-6.
-
(2001)
Neurology
, vol.56
, pp. 1245-1246
-
-
Chioza, B.1
Wilkie, H.2
Nashef, L.3
Blower, J.4
McCormick, D.5
Sham, P.6
-
10
-
-
0032975258
-
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
-
Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999; 52: 1816-21.
-
(1999)
Neurology
, vol.52
, pp. 1816-1821
-
-
Denier, C.1
Ducros, A.2
Vahedi, K.3
Joutel, A.4
Thierry, P.5
Ritz, A.6
-
12
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2
-
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfenkel I, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2. Nat Genet 2000a; 24: 343-5.
-
(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-Gourfenkel, I.6
-
13
-
-
0033910736
-
Coding and noncoding variation of the human calcium-channel 4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P. Coding and noncoding variation of the human calcium-channel 4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000b; 66: 1531-9.
-
(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
-
14
-
-
0036553669
-
2+ channel physiology and disease etiology
-
2+ channel physiology and disease etiology. Cell Mol Neurobiol 2002; 22: 103-20.
-
(2002)
Cell Mol Neurobiol
, vol.22
, pp. 103-120
-
-
Felix, R.1
-
15
-
-
0032837377
-
Ataxic mouse mutants and molecular mechanisms of absence epilepsy
-
Fletcher CF, Frankel WN. Ataxic mouse mutants and molecular mechanisms of absence epilepsy. Hum Mol Genet 1999; 8: 1907-12.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1907-1912
-
-
Fletcher, C.F.1
Frankel, W.N.2
-
16
-
-
20244386070
-
Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity
-
Fletcher CF, Tottene A, Lennon VA, Wilson SM, Dubel SJ, Paylor R, et al. Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity. FASEB J 2001; 15: 1288-90.
-
(2001)
FASEB J
, vol.15
, pp. 1288-1290
-
-
Fletcher, C.F.1
Tottene, A.2
Lennon, V.A.3
Wilson, S.M.4
Dubel, S.J.5
Paylor, R.6
-
17
-
-
0034752796
-
Block of cloned human T-type calcium channels by succinimide antiepileptic drugs
-
Gomora JC, Daud AN, Weiergraber M, Perez-Reyes E. Block of cloned human T-type calcium channels by succinimide antiepileptic drugs. Mol Pharmacol 2001; 60: 1121-32.
-
(2001)
Mol Pharmacol
, vol.60
, pp. 1121-1132
-
-
Gomora, J.C.1
Daud, A.N.2
Weiergraber, M.3
Perez-Reyes, E.4
-
19
-
-
0035089729
-
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2
-
Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 2001; 68: 759-64.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 759-764
-
-
Guida, S.1
Trettel, F.2
Pagnutti, S.3
Mantuano, E.4
Tottene, A.5
Veneziano, L.6
-
20
-
-
0033103648
-
Functional consequences of mutations in the human alpha 1A calcium channel subunit linked to familial hemiplegic migraine
-
Hans M, Luvisetto S, Williams ME, Spagnolo M, Urrutia A, Tottene A, et al. Functional consequences of mutations in the human alpha 1A calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 1999; 19: 1610-9.
-
(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
-
21
-
-
0344091562
-
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
-
Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003; 33: 527-32.
-
(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
-
22
-
-
1642372685
-
Genetic variation of CACNA1H in idiopathic generalized epilepsy
-
Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, et al. Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol 2004; 55: 595-6.
-
(2004)
Ann Neurol
, vol.55
, pp. 595-596
-
-
Heron, S.E.1
Phillips, H.A.2
Mulley, J.C.3
Mazarib, A.4
Neufeld, M.Y.5
Berkovic, S.F.6
-
23
-
-
0033593590
-
Reciprocal inhibitory connections and network synchrony in the mammalian thalamus
-
Huntsman MM, Porcello DM, Homanics GE, DeLorey TM, Huguenard JR. Reciprocal inhibitory connections and network synchrony in the mammalian thalamus. Science 1999; 283: 541-3.
-
(1999)
Science
, vol.283
, pp. 541-543
-
-
Huntsman, M.M.1
Porcello, D.M.2
Homanics, G.E.3
DeLorey, T.M.4
Huguenard, J.R.5
-
24
-
-
0347722572
-
Clinical spectrum of episodic ataxia type 2
-
Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004; 62: 17-22.
-
(2004)
Neurology
, vol.62
, pp. 17-22
-
-
Jen, J.1
Kim, G.W.2
Baloh, R.W.3
-
25
-
-
0035828406
-
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
-
Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001; 358: 801-7.
-
(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
-
27
-
-
1642323362
-
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy
-
In press
-
Khosravani H, Altier C, Simms BA, Hamming K, Snutch TP, McRory JE, et al. Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. J Biol Chem. In press 2004.
-
(2004)
J Biol Chem
-
-
Khosravani, H.1
Altier, C.2
Simms, B.A.3
Hamming, K.4
Snutch, T.P.5
McRory, J.E.6
-
28
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-63.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
29
-
-
0042237710
-
Neurological disorders caused by inherited ion-channel mutations
-
Kullmann DM, Hanna MG. Neurological disorders caused by inherited ion-channel mutations. Lancet Neurol 2002; 1: 157-66.
-
(2002)
Lancet Neurol
, vol.1
, pp. 157-166
-
-
Kullmann, D.M.1
Hanna, M.G.2
-
31
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
32
-
-
0025775195
-
Primary structure and functional expression from complementary DNA of a brain calcium channel
-
Mori Y, Friedrich T, Kim MS, Mikami A, Nakai J, Ruth P, et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 1991; 350: 398-402.
-
(1991)
Nature
, vol.350
, pp. 398-402
-
-
Mori, Y.1
Friedrich, T.2
Kim, M.S.3
Mikami, A.4
Nakai, J.5
Ruth, P.6
-
34
-
-
0039513062
-
Computer-simulation methods in human linkage analysis
-
Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989; 86: 4175-8.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 4175-4178
-
-
Ott, J.1
-
35
-
-
0035503078
-
Dominant-negative synthesis suppression of voltage-gated calcium channel Cav2.2 induced by truncated constructs
-
Raghib A, Bertaso F, Davies A, Page KM, Meir A, Bogdanov Y, et al. Dominant-negative synthesis suppression of voltage-gated calcium channel Cav2.2 induced by truncated constructs. J Neurosci 2001; 21: 8495-504.
-
(2001)
J Neurosci
, vol.21
, pp. 8495-8504
-
-
Raghib, A.1
Bertaso, F.2
Davies, A.3
Page, K.M.4
Meir, A.5
Bogdanov, Y.6
-
36
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998; 18: 25-9.
-
(1998)
Nat Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
DuPont, B.R.4
Leach, R.J.5
Melis, R.6
-
38
-
-
0033991925
-
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome
-
Trettel F, Mantuano E, Calabresi V, Veneziano L, Olsen AS, Georgesca A, et al. A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene 2000; 241: 45-50.
-
(2000)
Gene
, vol.241
, pp. 45-50
-
-
Trettel, F.1
Mantuano, E.2
Calabresi, V.3
Veneziano, L.4
Olsen, A.S.5
Georgesca, A.6
-
39
-
-
0023886345
-
Magnetic resonance imaging in familial paroxysmal ataxia
-
Vighetto A, Froment JC, Trillet M, Aimard G, et al. Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol 1988; 45: 547-9.
-
(1988)
Arch Neurol
, vol.45
, pp. 547-549
-
-
Vighetto, A.1
Froment, J.C.2
Trillet, M.3
Aimard, G.4
-
41
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+ -channel betal subunit gene SCN1B
-
Wallace RH, Wang DW, Singh R, Sheffer IE, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+ -channel betal subunit gene SCN1B. Nat Genet 1998; 19: 366-70.
-
(1998)
Nat Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Sheffer, I.E.4
-
42
-
-
0032567437
-
Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel
-
Wakamori M, Yamazaki K, Matsunodaira H, Teramoto T, et al. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem 1998; 273: 34857-67.
-
(1998)
J Biol Chem
, vol.273
, pp. 34857-34867
-
-
Wakamori, M.1
Yamazaki, K.2
Matsunodaira, H.3
Teramoto, T.4
-
43
-
-
0036510532
-
Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia
-
Wappl E, Koschak A, Poteser M, Sinnegger MJ, Walter D, Eberhart A, et al. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem 2002; 277: 6960-6.
-
(2002)
J Biol Chem
, vol.277
, pp. 6960-6966
-
-
Wappl, E.1
Koschak, A.2
Poteser, M.3
Sinnegger, M.J.4
Walter, D.5
Eberhart, A.6
-
44
-
-
0000801438
-
SLINK; a general simulation program for linkage analysis
-
Weeks DE, Ott J, Lathrop GM. SLINK; a general simulation program for linkage analysis. Am J Hum Genet 1990; 47: A204.
-
(1990)
Am J Hum Genet
, vol.47
-
-
Weeks, D.E.1
Ott, J.2
Lathrop, G.M.3
-
45
-
-
0028827658
-
Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels
-
Westenbroek RE, Sakurai T, Elliot EM, Hell JW, et al. Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci 1995; 15: 6403-18.
-
(1995)
J Neurosci
, vol.15
, pp. 6403-6418
-
-
Westenbroek, R.E.1
Sakurai, T.2
Elliot, E.M.3
Hell, J.W.4
-
46
-
-
0030776159
-
Progressive ataxia due to a missense mutation in a calcium channel gene
-
Yue Q, Jen JC, Nelson SF, Baloh RW, et al. Progressive ataxia due to a missense mutation in a calcium channel gene. Am J Hum Genet 1997; 61: 1078-87.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1078-1087
-
-
Yue, Q.1
Jen, J.C.2
Nelson, S.F.3
Baloh, R.W.4
-
47
-
-
0032557725
-
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
-
Yue Q, Jen JC, Thwe MM, Nelson SF, et al. De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am J Med Genet 1998; 77: 298-301.
-
(1998)
Am J Med Genet
, vol.77
, pp. 298-301
-
-
Yue, Q.1
Jen, J.C.2
Thwe, M.M.3
Nelson, S.F.4
-
48
-
-
0036703484
-
Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons
-
Zhang Y, Mori M, Burgess DL, Noebels JL. Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J Neurosci 2002; 22: 6362-71.
-
(2002)
J Neurosci
, vol.22
, pp. 6362-6371
-
-
Zhang, Y.1
Mori, M.2
Burgess, D.L.3
Noebels, J.L.4
|