메뉴 건너뛰기




Volumn 14, Issue 17, 2005, Pages 2491-2500

Sacred disease secrets revealed: The genetics of human epilepsy

Author keywords

Adrenergic; Beta; Heart failure; Lymphocytes; Prognosis; Receptors; Signal transduction

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CALCIUM CHANNEL; CHLORIDE CHANNEL; GENE PRODUCT; ION CHANNEL; LEUCINE RICH GLIOMA ACTIVATED PROTEIN 1; MALATE DEHYDROGENASE (DECARBOXYLATING); NICOTINIC RECEPTOR; POTASSIUM CHANNEL; PROTEIN CHRNA4; SODIUM CHANNEL; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR BRD2; UNCLASSIFIED DRUG; LGI1 PROTEIN, HUMAN; NICOTINIC RECEPTOR ALPHA4BETA2; PROTEIN; SCLEROPROTEIN;

EID: 24144498733     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi250     Document Type: Review
Times cited : (82)

References (95)
  • 1
    • 14944377720 scopus 로고    scopus 로고
    • Epilepsy's role in the historical differentiation of religion, magic, and science
    • Riggs, A.J. and Riggs, J.E. (2005) Epilepsy's role in the historical differentiation of religion, magic, and science. Epilepsia, 46 452-453.
    • (2005) Epilepsia , vol.46 , pp. 452-453
    • Riggs, A.J.1    Riggs, J.E.2
  • 2
    • 0031835226 scopus 로고    scopus 로고
    • From sensation to cognition
    • Mesulam, M.M. (1998) From sensation to cognition. Brain, 121 (Pt 6), 1013-1052.
    • (1998) Brain , vol.121 , Issue.PART 6 , pp. 1013-1052
    • Mesulam, M.M.1
  • 3
    • 0030317376 scopus 로고    scopus 로고
    • Causes of epilepsy: Contributions of the Rochester epidemiology project
    • Annegers, J.F., Rocca, W.A. and Hauser, W.A. (1996) Causes of epilepsy: contributions of the Rochester epidemiology project. Mayo Clin. Proc. 71, 570-575.
    • (1996) Mayo Clin. Proc. , vol.71 , pp. 570-575
    • Annegers, J.F.1    Rocca, W.A.2    Hauser, W.A.3
  • 4
    • 0027445242 scopus 로고
    • Thalamocortical oscillations in the sleeping and aroused brain
    • Steriade, M., McCormick, D.A. and Sejnowski, T.J. (1993) Thalamocortical oscillations in the sleeping and aroused brain. Science, 262 679-685.
    • (1993) Science , vol.262 , pp. 679-685
    • Steriade, M.1    McCormick, D.A.2    Sejnowski, T.J.3
  • 5
    • 16344387731 scopus 로고    scopus 로고
    • Epileptic seizures and epilepsy: Definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)
    • Fisher, R.S., van Emde Boas, W., Blume, W., Elger, C., Genton, P., Lee, P. and Engel, J., Jr. (2005) Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia, 46 470-472.
    • (2005) Epilepsia , vol.46 , pp. 470-472
    • Fisher, R.S.1    van Emde Boas, W.2    Blume, W.3    Elger, C.4    Genton, P.5    Lee, P.6    Engel Jr., J.7
  • 7
    • 0035478007 scopus 로고    scopus 로고
    • Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
    • Spampanato, J., Escayg, A., Meisler, M.H. and Goldin, A.L. (2001) Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J. Neurosci., 21, 7481-7490.
    • (2001) J. Neurosci. , vol.21 , pp. 7481-7490
    • Spampanato, J.1    Escayg, A.2    Meisler, M.H.3    Goldin, A.L.4
  • 9
    • 0346106074 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v) 1.1 sodium channels
    • Spampanato, J., Escayg, A., Meisler, M.H. and Goldin, A.L. (2003) Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v) 1.1 sodium channels. Neuroscience, 116, 37-48.
    • (2003) Neuroscience , vol.116 , pp. 37-48
    • Spampanato, J.1    Escayg, A.2    Meisler, M.H.3    Goldin, A.L.4
  • 13
    • 23644439941 scopus 로고    scopus 로고
    • Sodium channel mutations in epilepsy and other neurological disorders
    • Meisler, M.H. and Kearney, J.A. (2005) Sodium channel mutations in epilepsy and other neurological disorders. J. Clin. Invest., 115, 2010-2017.
    • (2005) J. Clin. Invest. , vol.115 , pp. 2010-2017
    • Meisler, M.H.1    Kearney, J.A.2
  • 14
    • 3342929286 scopus 로고    scopus 로고
    • Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
    • Rhodes, T.H., Lossin, C., Vanoye, C.G., Wang, D.W. and George, A.L., Jr. (2004) Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc. Natl Acad. Sci. USA, 101, 11147-11152.
    • (2004) Proc. Natl. Acad. Sci. USA , 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
  • 18
    • 0035139342 scopus 로고    scopus 로고
    • Sodium channel beta subunits: Anything but auxiliary
    • Isom, L.L. (2001) Sodium channel beta subunits: Anything but auxiliary. Neuroscientist, 7, 42-54.
    • (2001) Neuroscientist , vol.7 , pp. 42-54
    • Isom, L.L.1
  • 20
    • 0141653010 scopus 로고    scopus 로고
    • A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
    • Audenaert, D., Claes, L., Ceulemans, B., Lofgren, A., van Broeckhoven, C. and de Jonghe, P. (2003) A deletion 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
  • 21
    • 0041343159 scopus 로고    scopus 로고
    • 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. et al. (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
  • 23
    • 18744383129 scopus 로고    scopus 로고
    • 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. (2005) Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J. Neurosci., 25, 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
  • 24
    • 0024454150 scopus 로고
    • T-type calcium channels mediate the transition between tonic and phasic firing in thalamic neurons
    • Suzuki, S. and Rogawski, M.A. (1989) T-type calcium channels mediate the transition between tonic and phasic firing in thalamic neurons. Proc. Natl Acad. Sci. USA, 86, 7228-7232.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 7228-7232
    • Suzuki, S.1    Rogawski, M.A.2
  • 25
    • 0024324889 scopus 로고
    • Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons
    • Coulter, D.A., Huguenard, J.R. and Prince, D.A. (1989) Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons. Ann. Neurol., 25, 582-593.
    • (1989) Ann. Neurol. , vol.25 , pp. 582-593
    • Coulter, D.A.1    Huguenard, J.R.2    Prince, D.A.3
  • 28
    • 0033910736 scopus 로고    scopus 로고
    • 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. (2000) 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, 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
  • 29
    • 21244500617 scopus 로고    scopus 로고
    • Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel
    • Barrett, C.F., Cao, Y.Q. and Tsien, R.W. (2005) Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. J. Biol. Chem., 280, 24064-24071.
    • (2005) J. Biol. Chem. , vol.280 , pp. 24064-24071
    • Barrett, C.F.1    Cao, Y.Q.2    Tsien, R.W.3
  • 32
    • 0037065565 scopus 로고    scopus 로고
    • Human epilepsy, episodic ataxia type 2, and migraine
    • Holtmann, M., Opp, J., Tokarzewski, M. and Korn-Merker, E. (2002) Human epilepsy, episodic ataxia type 2, and migraine. Lancet, 359, 170-171.
    • (2002) Lancet , vol.359 , pp. 170-171
    • Holtmann, M.1    Opp, J.2    Tokarzewski, M.3    Korn-Merker, E.4
  • 33
    • 0035826838 scopus 로고    scopus 로고
    • 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., Asherson, P. and Makoff, A.J. (2001) Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology, 56, 1245-1246.
    • (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    Asherson, P.7    Makoff, A.J.8
  • 34
    • 2542486433 scopus 로고    scopus 로고
    • Nicotinic acetylcholine receptors and the regulation of neuronal signalling
    • Dajas-Bailador, F. and Wonnacott, S. (2004) Nicotinic acetylcholine receptors and the regulation of neuronal signalling. Trends Pharmacol. Sci., 25, 317-324.
    • (2004) Trends Pharmacol. Sci. , vol.25 , pp. 317-324
    • Dajas-Bailador, F.1    Wonnacott, S.2
  • 35
    • 4344652177 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview
    • Combi, R., Dalpra, L., Tenchini, M.L. and Ferini-Strambi, L. (2004) Autosomal dominant nocturnal frontal lobe epilepsy - a critical overview. J. Neurol., 251, 923-934.
    • (2004) J. Neurol. , vol.251 , pp. 923-934
    • Combi, R.1    Dalpra, L.2    Tenchini, M.L.3    Ferini-Strambi, L.4
  • 36
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 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. and Berkovic, S.F. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 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
  • 37
  • 38
    • 0031032949 scopus 로고    scopus 로고
    • Presynaptic nicotinic ACh receptors
    • Wonnacott, S. (1997) Presynaptic nicotinic ACh receptors. Trends Neurosci., 20, 92-98.
    • (1997) Trends Neurosci. , vol.20 , pp. 92-98
    • Wonnacott, S.1
  • 39
    • 0029958046 scopus 로고    scopus 로고
    • Identification of calcium binding sites that regulate potentiation of a neuronal nicotinic acetylcholine receptor
    • Galzi, J.L., Bertrand, S., Corringer, P.J., Changeux, J.P. and Bertrand, D. (1996) Identification of calcium binding sites that regulate potentiation of a neuronal nicotinic acetylcholine receptor. EMBO J. 15, 5824-5832.
    • (1996) EMBO J. , vol.15 , pp. 5824-5832
    • Galzi, J.L.1    Bertrand, S.2    Corringer, P.J.3    Changeux, J.P.4    Bertrand, D.5
  • 40
    • 23044496650 scopus 로고    scopus 로고
    • Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric ca2+ activation of the {alpha}4{beta}2 nicotinic acetylcholine receptor
    • Rodrigues-Pinguet, N.O., Pinguet, T.J., Figl, A., Lester, H.A. and Cohen, B.N. (2005) Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric ca2+ activation of the {alpha}4{beta}2 nicotinic acetylcholine receptor. Mol. Pharmacol., 68, 487-501.
    • (2005) Mol. Pharmacol. , vol.68 , pp. 487-501
    • Rodrigues-Pinguet, N.O.1    Pinguet, T.J.2    Figl, A.3    Lester, H.A.4    Cohen, B.N.5
  • 44
    • 0031974209 scopus 로고    scopus 로고
    • 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. and 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
  • 45
    • 0032895470 scopus 로고    scopus 로고
    • 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. and 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 (Pt 5), 817-825.
    • (1999) Brain , vol.122 , Issue.PART 5 , 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
  • 47
    • 0034283908 scopus 로고    scopus 로고
    • KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: Implications for therapy
    • Rogawski, M.A. (2000) KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: Implications for therapy. Trends Neurosci. 23, 393-398.
    • (2000) Trends Neurosci. , vol.23 , pp. 393-398
    • Rogawski, M.A.1
  • 48
    • 0000397944 scopus 로고
    • Neugeborenenkrämpfe im Rhamen einer epileptisch belasten Familie
    • Rett, A. and Teubel, R. (1964) Neugeborenenkrämpfe im Rhamen einer epileptisch belasten Familie. Wien. Klein. Wochenschr., 76, 609-612.
    • (1964) Wien. Klein. Wochenschr. , vol.76 , pp. 609-612
    • Rett, A.1    Teubel, R.2
  • 51
    • 0344012023 scopus 로고    scopus 로고
    • 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. and 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
  • 53
    • 2642549716 scopus 로고    scopus 로고
    • A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family
    • Tang, B., Li, H., Xia, K., Jiang, H., Pan, Q., Shen, L., Long, Z., Zhao, G. and Cai, F. (2004) A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family. J. Neurol. Sci. 221, 31-34.
    • (2004) J. Neurol. Sci. , vol.221 , pp. 31-34
    • Tang, B.1    Li, H.2    Xia, K.3    Jiang, H.4    Pan, Q.5    Shen, L.6    Long, Z.7    Zhao, G.8    Cai, F.9
  • 54
    • 1842842108 scopus 로고    scopus 로고
    • Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: A novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes
    • Pereira, S., Roll, P., Krizova, J., Genton, P., Brazdil, M., Kuba, R., Cau, P., Rektor, I. and Szepetowski, P. (2004) Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: A novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes. Epilepsia, 45, 384-390.
    • (2004) Epilepsia , vol.45 , pp. 384-390
    • Pereira, S.1    Roll, P.2    Krizova, J.3    Genton, P.4    Brazdil, M.5    Kuba, R.6    Cau, P.7    Rektor, I.8    Szepetowski, P.9
  • 64
    • 3342989891 scopus 로고    scopus 로고
    • Immunocytochemical localization of GABABR1 receptor subunits in the basolateral amygdala
    • McDonald, A.J., Mascagni, F. and Muller, J.F. (2004) Immunocytochemical localization of GABABR1 receptor subunits in the basolateral amygdala. Brain Res., 1018, 147-158.
    • (2004) Brain Res. , vol.1018 , pp. 147-158
    • McDonald, A.J.1    Mascagni, F.2    Muller, J.F.3
  • 65
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy
    • (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia, 30, 389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 69
    • 0032481137 scopus 로고    scopus 로고
    • A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors
    • Chernova, O.B., Somerville, R.P. and Cowell, J.K. (1998) A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene, 17, 2873-2881.
    • (1998) Oncogene , vol.17 , pp. 2873-2881
    • Chernova, O.B.1    Somerville, R.P.2    Cowell, J.K.3
  • 74
    • 0142136078 scopus 로고    scopus 로고
    • Autosomal dominant lateral temporal epilepsy: Clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families
    • Michelucci, R., Poza, J.J., Sofia, V., de Feo, M.R., Binelli, S., Bisulli, F., Scudellaro, E., Simionati, B., Zimbello, R., D'Orsi, G. et al. (2003) Autosomal dominant lateral temporal epilepsy: Clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia, 44, 1289-1297.
    • (2003) Epilepsia , vol.44 , pp. 1289-1297
    • Michelucci, R.1    Poza, J.J.2    Sofia, V.3    de Feo, M.R.4    Binelli, S.5    Bisulli, F.6    Scudellaro, E.7    Simionati, B.8    Zimbello, R.9    D'Orsi, G.10
  • 75
    • 1542409182 scopus 로고    scopus 로고
    • Autosomal dominant lateral temporal epilepsy: Two families with novel mutations in the LGI1 gene
    • Hedera, P., Abou-Khalil, B., Crunk, A.E., Taylor, K.A., Haines, J.L. and Sutcliffe, J.S. (2004) Autosomal dominant lateral temporal epilepsy: Two families with novel mutations in the LGI1 gene. Epilepsia, 45 218-222.
    • (2004) Epilepsia , vol.45 , pp. 218-222
    • Hedera, P.1    Abou-Khalil, B.2    Crunk, A.E.3    Taylor, K.A.4    Haines, J.L.5    Sutcliffe, J.S.6
  • 77
    • 0037098957 scopus 로고    scopus 로고
    • A common protein interaction domain links two recently identified epilepsy genes
    • Scheel, H., Tomiuk, S. and Hofmann, K. (2002) A common protein interaction domain links two recently identified epilepsy genes. Hum. Mol. Genet., 11, 1757-1762.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1757-1762
    • Scheel, H.1    Tomiuk, S.2    Hofmann, K.3
  • 79
    • 21244505337 scopus 로고    scopus 로고
    • ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
    • Senechal, K.R., Thaller, C. and Noebels, J.L. (2005) ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum. Mol. Genet.
    • (2005) Hum. Mol. Genet.
    • Senechal, K.R.1    Thaller, C.2    Noebels, J.L.3
  • 81
    • 17844375079 scopus 로고    scopus 로고
    • Regulation of axon growth in vivo by activity-based competition
    • Hua, J.Y., Smear, M.C., Baier, H. and Smith, S.J. (2005) Regulation of axon growth in vivo by activity-based competition. Nature, 434, 1022-1026.
    • (2005) Nature , vol.434 , pp. 1022-1026
    • Hua, J.Y.1    Smear, M.C.2    Baier, H.3    Smith, S.J.4
  • 82
    • 20244371011 scopus 로고    scopus 로고
    • Neurobiology: Sculpted by competition
    • Ottersen, O.P. (2005) Neurobiology: Sculpted by competition. Nature 434, 969.
    • (2005) Nature , vol.434 , pp. 969
    • Ottersen, O.P.1
  • 84
    • 0031661116 scopus 로고    scopus 로고
    • Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes
    • Woermann, F.G., Sisodiya, S.M., Free, S.L. and Duncan, J.S. (1998) Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes. Brain, 121 (Pt 9), 1661-1667.
    • (1998) Brain , vol.121 , Issue.PART 9 , pp. 1661-1667
    • Woermann, F.G.1    Sisodiya, S.M.2    Free, S.L.3    Duncan, J.S.4
  • 85
    • 0043167789 scopus 로고    scopus 로고
    • BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy
    • Pal, D.K., Evgrafov, O.V., Tabares, P., Zhang, F., Durner, M. and Greenberg, D.A. (2003) BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am. J. Hum. Genet., 73, 261-270.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 261-270
    • Pal, D.K.1    Evgrafov, O.V.2    Tabares, P.3    Zhang, F.4    Durner, M.5    Greenberg, D.A.6
  • 88
    • 0036816431 scopus 로고    scopus 로고
    • Clinical presentations of naturally occurring canine seizures: Similarities to human seizures
    • Licht, B.G., Licht, M.H., Harper, K.M., Lin, S., Curtin, J.J., Hyson, L.L. and Willard, K. (2002) Clinical presentations of naturally occurring canine seizures: Similarities to human seizures. Epilepsy Behav., 3, 460-470.
    • (2002) Epilepsy Behav. , vol.3 , pp. 460-470
    • Licht, B.G.1    Licht, M.H.2    Harper, K.M.3    Lin, S.4    Curtin, J.J.5    Hyson, L.L.6    Willard, K.7
  • 92
    • 0035834007 scopus 로고    scopus 로고
    • Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel
    • Dedek, K., Kunath, B., Kananura, C., Reuner, U., Jentsch, T.J. and Steinlein, O.K. (2001) Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc. Natl Acad. Sci. USA, 98, 12272-12277.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 12272-12277
    • Dedek, K.1    Kunath, B.2    Kananura, C.3    Reuner, U.4    Jentsch, T.J.5    Steinlein, O.K.6
  • 93
    • 0028124225 scopus 로고
    • 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. and Litt, M. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet., 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
  • 94
    • 0036712759 scopus 로고    scopus 로고
    • LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
    • Gu, W., Brodtkorb, E. and Steinlein, O.K. (2002) LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann. Neurol., 52, 364-367.
    • (2002) Ann. Neurol. , vol.52 , pp. 364-367
    • Gu, W.1    Brodtkorb, E.2    Steinlein, O.K.3
  • 95
    • 23044441989 scopus 로고    scopus 로고
    • Molecular analysis of the A322D mutation in the GABA receptor alpha-subnit causing juvenile myoclonic epilepsy
    • Krampfl, K., Maljevic, S., Cossette, P., Ziegler, E., Rouleav, G.A. Lerche, H., Bufler, J. (2005) Molecular analysis of the A322D mutation in the GABA receptor alpha-subnit causing juvenile myoclonic epilepsy. Eur. J. Neurosci., 22, 10-20.
    • (2005) Eur. J. Neurosci. , vol.22 , pp. 10-20
    • Krampfl, K.1    Maljevic, S.2    Cossette, P.3    Ziegler, E.4    Rouleav, G.A.5    Lerche, H.6    Bufler, J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.