-
1
-
-
0031748082
-
Epilepsies in twins: genetics of the major epilepsy syndromes
-
Berkovic S.F., Howell R.A., Hay D.A., and Hopper J.L. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann. Neurol. 43 (1998) 435-445
-
(1998)
Ann. Neurol.
, vol.43
, pp. 435-445
-
-
Berkovic, S.F.1
Howell, R.A.2
Hay, D.A.3
Hopper, J.L.4
-
2
-
-
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., and Wu X. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann. Neurol. 54 (2003) 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
-
3
-
-
0024317220
-
-
Commission on classification and terminology of the International League against Epilepsy, Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30 (1989) 389-399
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
4
-
-
33745773136
-
Evaluation of CACNA1H in European patients with childhood absence epilepsy
-
[Epub ahead of print]
-
Chioza B., Everett K., Aschauer H., Brouwer O., Callenbach P., Covanis A., Dulac O., Durner M., Eeg-Olofsson O., Feucht M., Friis M., Heils A., Kjeldsen M., Larsson K., Lehesjoki A.E., Nabbout R., Olsson I., Sander A., Siren R., Robinson M., Rees M., and Gardiner R.M. Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res. 25 (2006) [Epub ahead of print]
-
(2006)
Epilepsy Res.
, vol.25
-
-
Chioza, B.1
Everett, K.2
Aschauer, H.3
Brouwer, O.4
Callenbach, P.5
Covanis, A.6
Dulac, O.7
Durner, M.8
Eeg-Olofsson, O.9
Feucht, M.10
Friis, M.11
Heils, A.12
Kjeldsen, M.13
Larsson, K.14
Lehesjoki, A.E.15
Nabbout, R.16
Olsson, I.17
Sander, A.18
Siren, R.19
Robinson, M.20
Rees, M.21
Gardiner, R.M.22
more..
-
5
-
-
2142714472
-
2+/calmodulin-dependent protein kinase II after a brief pentylenetetrazol seizure; potential role in kindling
-
2+/calmodulin-dependent protein kinase II after a brief pentylenetetrazol seizure; potential role in kindling. Epilepsy Res. 58 (2004) 107-117
-
(2004)
Epilepsy Res.
, vol.58
, pp. 107-117
-
-
Dong, Y.1
Rosenberg, H.C.2
-
6
-
-
0033910736
-
Coding and noncoding variation of the human calcium-channel beta4-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., and Meisler M.H. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66 (2000) 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
-
7
-
-
0029075560
-
The transmission/disequilibrium test: history, subdivision, and admixture
-
Ewens W.J., and Spielman R.S. The transmission/disequilibrium test: history, subdivision, and admixture. Am. J. Hum. Genet 57 (1995) 455-464
-
(1995)
Am. J. Hum. Genet
, vol.57
, pp. 455-464
-
-
Ewens, W.J.1
Spielman, R.S.2
-
8
-
-
0026689178
-
Performing the exact test of Hardy-Weinberg proportion for multiple alleles
-
Guo S.W., and Thompson E.A. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48 2 (1992 Jun) 361-372
-
(1992)
Biometrics
, vol.48
, Issue.2
, pp. 361-372
-
-
Guo, S.W.1
Thompson, E.A.2
-
9
-
-
1642372685
-
Genetic variation of CACNA1H in idiopathic generalized epilepsy
-
Heron S.E., Phillips H.A., Mulley J.C., Mazaeib A., Neufeld M.Y., Berkovic S.F., and Scheffer I.E. Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann. Neurol. 55 (2004) 595-596
-
(2004)
Ann. Neurol.
, vol.55
, pp. 595-596
-
-
Heron, S.E.1
Phillips, H.A.2
Mulley, J.C.3
Mazaeib, A.4
Neufeld, M.Y.5
Berkovic, S.F.6
Scheffer, I.E.7
-
10
-
-
10344235279
-
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia
-
Imbrici P., Jaffe S.L., Eunson L.H., Davies N.P., Herd C., Robertson R., Kullmann D.M., and Hanna M.G. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain 127 (2004) 2682-2692
-
(2004)
Brain
, vol.127
, pp. 2682-2692
-
-
Imbrici, P.1
Jaffe, S.L.2
Eunson, L.H.3
Davies, N.P.4
Herd, C.5
Robertson, R.6
Kullmann, D.M.7
Hanna, M.G.8
-
11
-
-
2642553932
-
Pharmacology of recombinant low-voltage activated calcium channels
-
Lacinova L. Pharmacology of recombinant low-voltage activated calcium channels. Curr. Drug. Targets CNS Neurol. Disord. 3 (2004) 105-111
-
(2004)
Curr. Drug. Targets CNS Neurol. Disord.
, vol.3
, pp. 105-111
-
-
Lacinova, L.1
-
12
-
-
0037312921
-
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
-
Lohmueller K.E., Pearce C.L., Pike M., Lander E.S., and Hirschhorn J.N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 33 (2003) 177-182
-
(2003)
Nat. Genet.
, vol.33
, pp. 177-182
-
-
Lohmueller, K.E.1
Pearce, C.L.2
Pike, M.3
Lander, E.S.4
Hirschhorn, J.N.5
-
13
-
-
0024284028
-
A simple saiting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dyhes D.D., and Poleskey H.F. A simple saiting out procedure for extracting DNA from human nucleated cells. Nucleic. Acid. Res. 16 (1988) 1215
-
(1988)
Nucleic. Acid. Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dyhes, D.D.2
Poleskey, H.F.3
-
14
-
-
0030872838
-
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
-
Nickerson D.A., Tobe V.O., and Taylor S.L. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucl. Acids Res. 5 (1997) 2745-2751
-
(1997)
Nucl. Acids Res.
, vol.5
, pp. 2745-2751
-
-
Nickerson, D.A.1
Tobe, V.O.2
Taylor, S.L.3
-
15
-
-
1942467065
-
Genomic variants in exons and introns: identifying the splicing spoilers
-
Pagani F., and Baralle F.E. Genomic variants in exons and introns: identifying the splicing spoilers. Nat. Rev. Genet. 5 (2004) 389-396
-
(2004)
Nat. Rev. Genet.
, vol.5
, pp. 389-396
-
-
Pagani, F.1
Baralle, F.E.2
-
16
-
-
18344384217
-
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q
-
Robinson R., Taske N., Sander T., Heils A., Whitehouse W., Goutieres F., Aicardi J., Lehesjoki A.E., Siren A., Laue Friis M., Kjeldsen M.J., Panayiotopoulos C., Kennedy C., Ferrie C., Rees M., and Gardiner R.M. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res. 48 (2002) 169-179
-
(2002)
Epilepsy Res.
, vol.48
, pp. 169-179
-
-
Robinson, R.1
Taske, N.2
Sander, T.3
Heils, A.4
Whitehouse, W.5
Goutieres, F.6
Aicardi, J.7
Lehesjoki, A.E.8
Siren, A.9
Laue Friis, M.10
Kjeldsen, M.J.11
Panayiotopoulos, C.12
Kennedy, C.13
Ferrie, C.14
Rees, M.15
Gardiner, R.M.16
-
18
-
-
0033560089
-
Differential distribution of three members of a gene family encoding low voltage-activated (T-type) calcium channels
-
Talley E.M., Cribbs L.L., Lee J.H., Daud A., Perez-Reyes E., and Bayliss D.A. Differential distribution of three members of a gene family encoding low voltage-activated (T-type) calcium channels. J. Neurosci. 19 (1999) 1895-1911
-
(1999)
J. Neurosci.
, vol.19
, pp. 1895-1911
-
-
Talley, E.M.1
Cribbs, L.L.2
Lee, J.H.3
Daud, A.4
Perez-Reyes, E.5
Bayliss, D.A.6
-
19
-
-
18744383129
-
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel
-
Vitko I., Chen Y., Arias J.M., Shen Y., Wu X.R., and Perez-Reyes E. Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J. Neurosci. 25 (2005) 4844-4855
-
(2005)
J. Neurosci.
, vol.25
, pp. 4844-4855
-
-
Vitko, I.1
Chen, Y.2
Arias, J.M.3
Shen, Y.4
Wu, X.R.5
Perez-Reyes, E.6
-
20
-
-
0035009634
-
Involvement of cAMP- and Ca(2+)/calmodulin-dependent neuronal protein phosphorylation in mechanisms underlying genetic predisposition to audiogenic seizures in rats
-
Yechikhov S., Morenkov E., Chulanova T., Godukhin O., and Shchipakina T. Involvement of cAMP- and Ca(2+)/calmodulin-dependent neuronal protein phosphorylation in mechanisms underlying genetic predisposition to audiogenic seizures in rats. Epilepsy Res. 46 (2001) 15-25
-
(2001)
Epilepsy Res.
, vol.46
, pp. 15-25
-
-
Yechikhov, S.1
Morenkov, E.2
Chulanova, T.3
Godukhin, O.4
Shchipakina, T.5
-
21
-
-
33646159973
-
A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies
-
Zhong X., Liu J.R., Kyle J.W., Hanck D.A., and Agnew W.S. A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. Hum. Mol. Genet. 15 (2006) 1497-1512
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1497-1512
-
-
Zhong, X.1
Liu, J.R.2
Kyle, J.W.3
Hanck, D.A.4
Agnew, W.S.5
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