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Volumn 115, Issue 8, 2005, Pages 2010-2017

Sodium channel mutations in epilepsy and other neurological disorders

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

EID: 23644439941     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI25466     Document Type: Review
Times cited : (421)

References (88)
  • 1
    • 0038076054 scopus 로고    scopus 로고
    • X-ray structure of a voltage-dependent K+ channel
    • Jiang, V., et al. 2003. X-ray structure of a voltage-dependent K+ channel. Nature. 423:33-41.
    • (2003) Nature , vol.423 , pp. 33-41
    • Jiang, V.1
  • 2
    • 0038752614 scopus 로고    scopus 로고
    • The principle of gating charge movement: In a voltage-dependent K+ channel
    • Jiang, Y., Ruta, V., Chen, J., Lee, A., and MacKinnon, R. 2003. The principle of gating charge movement: in a voltage-dependent K+ channel. Nature. 423:42-48.
    • (2003) Nature , vol.423 , pp. 42-48
    • Jiang, Y.1    Ruta, V.2    Chen, J.3    Lee, A.4    MacKinnon, R.5
  • 3
    • 0028263694 scopus 로고
    • Auxiliary subunits of voltage-gated ion channels
    • Isom, L.L., Dejongh, K.S., and Catterall, W.A. 1994. Auxiliary subunits of voltage-gated ion channels. Neuron. 12:1183-1194.
    • (1994) Neuron , vol.12 , pp. 1183-1194
    • Isom, L.L.1    Dejongh, K.S.2    Catterall, W.A.3
  • 4
    • 0041419702 scopus 로고    scopus 로고
    • Sodium channel β4, a new disulfide-linked auxiliary subunit with similarity to β2
    • Yu, F.H., et al. 2003. Sodium channel β4, a new disulfide-linked auxiliary subunit with similarity to β2. J. Neurosci. 23:7577-7585.
    • (2003) J. Neurosci. , vol.23 , pp. 7577-7585
    • Yu, F.H.1
  • 5
    • 0345034603 scopus 로고    scopus 로고
    • Evolution and diversity of mammalian sodium channel genes
    • Plummer, N.W., and Meisler, M.H. 1999. Evolution and diversity of mammalian sodium channel genes. Genomics. 57:323-331.
    • (1999) Genomics , vol.57 , pp. 323-331
    • Plummer, N.W.1    Meisler, M.H.2
  • 6
    • 0035050571 scopus 로고    scopus 로고
    • Resurgence of sodium channel research
    • Goldin, A.L. 2001, Resurgence of sodium channel research. Annu. Rev. Pbysiol. 63:871-894.
    • (2001) Annu. Rev. Pbysiol. , vol.63 , pp. 871-894
    • Goldin, A.L.1
  • 7
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenorypes
    • Scheffer, I., and Berkovic, S.F. 1997. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenorypes. Brain. 120:479-490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.1    Berkovic, S.F.2
  • 8
    • 0032953159 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
    • Singh, R., Scheffer, I.E., Crossland, K., and Berkovic, S.F. 1999. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann. Neurol. 45:75-81.
    • (1999) Ann. Neurol. , vol.45 , pp. 75-81
    • Singh, R.1    Scheffer, I.E.2    Crossland, K.3    Berkovic, S.F.4
  • 9
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B
    • Wallace, R., et al. 1998. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B. Nat. Genet. 19:366-370.
    • (1998) Nat. Genet. , vol.19 , pp. 366-370
    • Wallace, R.1
  • 10
    • 0037115031 scopus 로고    scopus 로고
    • Functional and biochemical analysis of a sodium channel beta 1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    • Meadows, L.S., et al. 2002. Functional and biochemical analysis of a sodium channel beta 1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J Neurosci. 22:10699-10709.
    • (2002) J Neurosci. , vol.22 , pp. 10699-10709
    • Meadows, L.S.1
  • 11
    • 0141653010 scopus 로고    scopus 로고
    • A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
    • Audenaert, D., et al. 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
  • 12
    • 0033364824 scopus 로고    scopus 로고
    • A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    • Baulac, S., et al. 1999. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am. J. Hum. Genet. 65:1078-1085.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1078-1085
    • Baulac, S.1
  • 13
    • 0033361895 scopus 로고    scopus 로고
    • Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33
    • Moulard, B., et al. 1999. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am. J. Hum. Genet. 65:1396-1400.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1396-1400
    • Moulard, B.1
  • 14
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Escayg, A., et al. 2000. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat, Genet. 24:343-345.
    • (2000) Nat. Genet. , vol.24 , pp. 343-345
    • Escayg, A.1
  • 15
    • 10744220869 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus (GEFS+): Clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations
    • Bonanni, P., et al. 2004. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia. 45:149-158.
    • (2004) Epilepsia , vol.45 , pp. 149-158
    • Bonanni, P.1
  • 16
    • 0035956488 scopus 로고    scopus 로고
    • Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    • Abou-Khalil, B., et al. 2001. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 57:2265-2272.
    • (2001) Neurology , vol.57 , pp. 2265-2272
    • Abou-Khalil, B.1
  • 17
    • 0042415672 scopus 로고    scopus 로고
    • Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus
    • Annesi, G., et al. 2003. Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. Epilepsia. 44:1257-1258.
    • (2003) Epilepsia , vol.44 , pp. 1257-1258
    • Annesi, G.1
  • 18
    • 1842850796 scopus 로고    scopus 로고
    • Clinical correlations of mutations in the SCN1A gene: From febrile seizures to severe myoclonic epilepsy in infancy
    • Ceulemans, B.P., Claes, L.R., and Lagae, L.G. 2004. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr. Neurol. 30:236-243.
    • (2004) Pediatr. Neurol. , vol.30 , pp. 236-243
    • Ceulemans, B.P.1    Claes, L.R.2    Lagae, L.G.3
  • 19
    • 0035071143 scopus 로고    scopus 로고
    • A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -and prevalence of variants in patients with epilepsy
    • Escayg, A., et al. 2001. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68:866-873.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 866-873
    • Escayg, A.1
  • 20
    • 0036280187 scopus 로고    scopus 로고
    • Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (generalized epilepsy with febrile seizures plus)
    • Gerard, F., Pereira, S., Robaglia-Schlupp, A., Genton, P., and Szepetowski, P. 2002. Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (generalized epilepsy with febrile seizures plus). Epilepsia. 43:581-586.
    • (2002) Epilepsia , vol.43 , pp. 581-586
    • Gerard, F.1    Pereira, S.2    Robaglia-Schlupp, A.3    Genton, P.4    Szepetowski, P.5
  • 21
    • 0036158906 scopus 로고    scopus 로고
    • Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A
    • Ito, M., et al. 2002. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy Res. 48:15-23.
    • (2002) Epilepsy Res. , vol.48 , pp. 15-23
    • Ito, M.1
  • 22
    • 0035833926 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family
    • Lerche, H., et al. 2001. Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. Neurology. 57:1191-1198.
    • (2001) Neurology , vol.57 , pp. 1191-1198
    • Lerche, H.1
  • 23
    • 20844446135 scopus 로고    scopus 로고
    • A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction
    • Spampanato, J., et al. 2004. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J. Neurosci. 24:10022-10034.
    • (2004) J. Neurosci. , vol.24 , pp. 10022-10034
    • Spampanato, J.1
  • 24
    • 0035964102 scopus 로고    scopus 로고
    • Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
    • Sugawara, T., et al. 2001. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. 57:703-705.
    • (2001) Neurology , vol.57 , pp. 703-705
    • Sugawara, T.1
  • 25
    • 0035074294 scopus 로고    scopus 로고
    • Neuronal sodium-channel alpha1-subunit mutations in generated epilepsy with febrile seizures plus
    • Wallace, R.H., et al. 2001. Neuronal sodium-channel alpha1-subunit mutations in generated epilepsy with febrile seizures plus. Am. J. Hum. Genet. 68:859-865.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 859-865
    • Wallace, R.H.1
  • 26
    • 0034987073 scopus 로고    scopus 로고
    • De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
    • Claes, L., et al. 2001. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68:1327-1332.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1327-1332
    • Claes, L.1
  • 27
    • 0042384619 scopus 로고    scopus 로고
    • Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
    • Wallace, R.H., et al. 2003. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology. 61:765-769.
    • (2003) Neurology , vol.61 , pp. 765-769
    • Wallace, R.H.1
  • 28
    • 10744227466 scopus 로고    scopus 로고
    • Mutations of neuronal voltage-gated Na+ channel alpha1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
    • Fukuma, G., et al. 2004. Mutations of neuronal voltage-gated Na+ channel alpha1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. 45:140-148.
    • (2004) Epilepsia , vol.45 , pp. 140-148
    • Fukuma, G.1
  • 29
    • 14344277590 scopus 로고    scopus 로고
    • A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • Sugawara, T., et al. 2001. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. U. S. A. 98:6381-6389.
    • (2001) Proc. Natl. Acad. Sci. U. S. A. , vol.98 , pp. 6381-6389
    • Sugawara, T.1
  • 30
    • 12144286141 scopus 로고    scopus 로고
    • A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
    • Kamiya, K., et al. 2004. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J. Neurosci. 24:2690-2698.
    • (2004) J. Neurosci. , vol.24 , pp. 2690-2698
    • Kamiya, K.1
  • 31
    • 0037077834 scopus 로고    scopus 로고
    • Sodium-channel defects in benign familial neonatal-infantile seizures
    • Heron, S.E., et al. 2002. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 360:851-852.
    • (2002) Lancet , vol.360 , pp. 851-852
    • Heron, S.E.1
  • 32
    • 12144285702 scopus 로고    scopus 로고
    • Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopachy
    • Berkovic, S.F., et al. 2004. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopachy. Ann. Neurol. 55:550-557.
    • (2004) Ann. Neurol. , vol.55 , pp. 550-557
    • Berkovic, S.F.1
  • 34
    • 33645187103 scopus 로고    scopus 로고
    • Deletion of the Nav1.1 channel: A mouse model for severe myoclonic epilepsy of infancy
    • Program no. 479.5 presented October 25. San Diego, California, USA
    • Yu, F.H., et al. 2004. Deletion of the Nav1.1 channel: a mouse model for severe myoclonic epilepsy of infancy. Program no. 479.5 presented at the 34th Annual Society for Neuroscience Meeting. October 25. San Diego, California, USA. http://sfn.scholar-one.com/itin2004/index.html.
    • (2004) 34th Annual Society for Neuroscience Meeting
    • Yu, F.H.1
  • 35
    • 0034131122 scopus 로고    scopus 로고
    • Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice
    • Planells-Cases, R., et al. 2000. Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice. Biophys. J. 78:2878-2891.
    • (2000) Biophys. J. , vol.78 , pp. 2878-2891
    • Planells-Cases, R.1
  • 36
    • 33645187419 scopus 로고    scopus 로고
    • Heterozygosity for a truncation allele of sodium channel SCN8A in a family with ataxia and cognitive impairment
    • Program no. 205 presented. October 30. Bethesda, Maryland, USA
    • Trudeau, M.M., Dalton, J.D., Day, J.W., Ranum, L.P.W., and Meisler, M.H. 2004. Heterozygosity for a truncation allele of sodium channel SCN8A in a family with ataxia and cognitive impairment. Program no. 205 presented at the 54th Annual Meeting of the American Society of Human Genetics. October 30. Bethesda, Maryland, USA. http://www. ashg.org/genetics/ashg04s/index.shtml.
    • (2004) 54th Annual Meeting of the American Society of Human Genetics
    • Trudeau, M.M.1    Dalton, J.D.2    Day, J.W.3    Ranum, L.P.W.4    Meisler, M.H.5
  • 37
    • 0037168659 scopus 로고    scopus 로고
    • Reduced sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta 2-subunits
    • Chen, C., et al. 2002. Reduced sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta 2-subunits. Proc. Natl. Acad. Sci. U. S. A. 99:17072-17077.
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 17072-17077
    • Chen, C.1
  • 38
    • 11144354817 scopus 로고    scopus 로고
    • Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture
    • Chen, C., et al. 2004. Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J. Neurosci. 24:4030-4042.
    • (2004) J. Neurosci. , vol.24 , pp. 4030-4042
    • Chen, C.1
  • 40
    • 12244289247 scopus 로고    scopus 로고
    • Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)
    • Cossette, P., et al. 2003. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res. 53:107-117.
    • (2003) Epilepsy Res. , vol.53 , pp. 107-117
    • Cossette, P.1
  • 41
    • 0034671216 scopus 로고    scopus 로고
    • A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro
    • Alekov, A., Rahman, M.M., Mitrovic, N., Lehmann-Horn, F., and Lerche, H. 2000. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J. Physiol. 529:533-539.
    • (2000) J. Physiol. , vol.529 , pp. 533-539
    • Alekov, A.1    Rahman, M.M.2    Mitrovic, N.3    Lehmann-Horn, F.4    Lerche, H.5
  • 42
    • 0034954467 scopus 로고    scopus 로고
    • Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man
    • Alekov, A.K., Rahman, M.M., Mitrovic, N., Lehmann-Horn, F., and Lerche, H. 2001. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur. J. Neurosci. 13:2171-2176.
    • (2001) Eur. J. Neurosci. , vol.13 , pp. 2171-2176
    • Alekov, A.K.1    Rahman, M.M.2    Mitrovic, N.3    Lehmann-Horn, F.4    Lerche, H.5
  • 43
    • 0347479237 scopus 로고    scopus 로고
    • Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
    • Lossin, C., et al. 2003. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J. Neurosci. 23:11289-11295.
    • (2003) J. Neurosci. , vol.23 , pp. 11289-11295
    • Lossin, C.1
  • 44
    • 0038771150 scopus 로고    scopus 로고
    • Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
    • Sugawara, T., et al. 2003. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res. 54:201-207.
    • (2003) Epilepsy Res. , vol.54 , pp. 201-207
    • Sugawara, T.1
  • 45
    • 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
  • 46
    • 0346106074 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Nav1.1 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 Nav1.1 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
  • 47
    • 0036304363 scopus 로고    scopus 로고
    • Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
    • Ohmori, I., Ouchida, M., Ohtsuka, Y., Oka, E., and Shimizu, K. 2002. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 295:17-23.
    • (2002) Biochem. Biophys. Res. Commun. , vol.295 , pp. 17-23
    • Ohmori, I.1    Ouchida, M.2    Ohtsuka, Y.3    Oka, E.4    Shimizu, K.5
  • 48
    • 0035863416 scopus 로고    scopus 로고
    • A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
    • Kearney, J.A., et al. 2001. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience. 102:307-317.
    • (2001) Neuroscience , vol.102 , pp. 307-317
    • Kearney, J.A.1
  • 49
    • 0030855929 scopus 로고    scopus 로고
    • Interaction between the sodium channel inactivation linker and domain III S4-S5
    • Smith, M.R., and Goldin, A.L. 1997. Interaction between the sodium channel inactivation linker and domain III S4-S5. Biophys. J. 73:1885-1895.
    • (1997) Biophys. J. , vol.73 , pp. 1885-1895
    • Smith, M.R.1    Goldin, A.L.2
  • 50
    • 0034702931 scopus 로고    scopus 로고
    • Molecular pharmacology of the sodium channel mutation D 1790G linked to the long-QT syndrome
    • Abriel, H., Wehrens, X.H.T., Benhorin, J., Kerem, B., and Kass, R.S. 2000. Molecular pharmacology of the sodium channel mutation D 1790G linked to the long-QT syndrome. Circulation. 102:921-925.
    • (2000) Circulation , vol.102 , pp. 921-925
    • Abriel, H.1    Wehrens, X.H.T.2    Benhorin, J.3    Kerem, B.4    Kass, R.S.5
  • 51
    • 0034636115 scopus 로고    scopus 로고
    • Effects of flecainide in patients with new SCN5A mutation: Mutation-specific therapy for long-QT syndrome?
    • Benhorin, J., et al. 2000. Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation. 101:1698-1706.
    • (2000) Circulation , vol.101 , pp. 1698-1706
    • Benhorin, J.1
  • 52
    • 20244368950 scopus 로고    scopus 로고
    • Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin
    • Tate, S.K., et al. 2005. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc. Natl. Acad. Sci. U. S. A. 102:5507-5512.
    • (2005) Proc. Natl. Acad. Sci. U. S. A. , vol.102 , pp. 5507-5512
    • Tate, S.K.1
  • 53
    • 0038324123 scopus 로고    scopus 로고
    • Familial severe myoclonic epilepsy of infancy: Truncation of Nav1.1 and genetic heterogeneity
    • Gennaro, E., et al. 2003. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord. 5:21-25.
    • (2003) Epileptic Disord. , vol.5 , pp. 21-25
    • Gennaro, E.1
  • 54
    • 0344672944 scopus 로고    scopus 로고
    • Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
    • Fujiwara, T., et al. 2003. Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 126:531-546.
    • (2003) Brain , vol.126 , pp. 531-546
    • Fujiwara, T.1
  • 55
    • 12344326485 scopus 로고    scopus 로고
    • Cryptic causation of human disease: Reading between the (germ) lines
    • Weiss, K.M. 2005. Cryptic causation of human disease: reading between the (germ) lines. Trends Genet. 21:82-88.
    • (2005) Trends Genet. , vol.21 , pp. 82-88
    • Weiss, K.M.1
  • 56
    • 0033975420 scopus 로고    scopus 로고
    • A major effect QTL determined by multiple genes in epileptic EL mice
    • Legare, M.E., Bartlett, F.S., 2nd, and Frankel, W.N. 2000. A major effect QTL determined by multiple genes in epileptic EL mice. Genome Res. 10:42-48.
    • (2000) Genome Res. , vol.10 , pp. 42-48
    • Legare, M.E.1    Bartlett II, F.S.2    Frankel, W.N.3
  • 57
    • 3843081736 scopus 로고    scopus 로고
    • Genetic control of sensitivity to hippocampal cell death induced by kainic acid: A quantitative trait loci analysis
    • Schauwecker, P.E., Williams, R.W., and Santos, J.B. 2004. Genetic control of sensitivity to hippocampal cell death induced by kainic acid: a quantitative trait loci analysis. J. Comp. Neurol. 477:96-107.
    • (2004) J. Comp. Neurol. , vol.477 , pp. 96-107
    • Schauwecker, P.E.1    Williams, R.W.2    Santos, J.B.3
  • 58
    • 11144357228 scopus 로고    scopus 로고
    • Fine mapping of a seizure susceptibility locus on mouse chromosome 1: Nomination of Kcnj10 as a causative gene
    • Ferraro, T.N., et al. 2004. Fine mapping of a seizure susceptibility locus on mouse chromosome 1: nomination of Kcnj10 as a causative gene. Mamm. Genome. 15:239-251.
    • (2004) Mamm. Genome , vol.15 , pp. 239-251
    • Ferraro, T.N.1
  • 59
    • 0033567071 scopus 로고    scopus 로고
    • Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice
    • Ferraro, T.N., et al. 1999. Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice. J. Neurosci. 19:6733-6739.
    • (1999) J. Neurosci. , vol.19 , pp. 6733-6739
    • Ferraro, T.N.1
  • 60
    • 23644451209 scopus 로고    scopus 로고
    • Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a
    • In press
    • Bergren, S.K., Chen, S., Galecki, A., and Kearney, J.A. 2005. Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a. Mamm. Genome. In press.
    • (2005) Mamm. Genome
    • Bergren, S.K.1    Chen, S.2    Galecki, A.3    Kearney, J.A.4
  • 61
    • 0043244855 scopus 로고    scopus 로고
    • SCNM1, a putative RNA splicing factor that modifies disease severity in mice
    • Buchner, D.A., Trudeau, M., and Meisler, M.H. 2003. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science. 301:967-969.
    • (2003) Science , vol.301 , pp. 967-969
    • Buchner, D.A.1    Trudeau, M.2    Meisler, M.H.3
  • 62
    • 0035076298 scopus 로고    scopus 로고
    • Sodium channels and neurological disease: Insights from Scn8a mutations in the mouse
    • Meisler, M.H., Kearney, J., Escayg, A., MacDonald, B.T., and Sprunger, L.K. 2001. Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. Neuroscientist. 7:136-145.
    • (2001) Neuroscientist , vol.7 , pp. 136-145
    • Meisler, M.H.1    Kearney, J.2    Escayg, A.3    MacDonald, B.T.4    Sprunger, L.K.5
  • 63
    • 33645180046 scopus 로고    scopus 로고
    • v1.6) in cerebellar Purkinje and granule cells
    • Program no. 397.1 presented October 23-27. San Diego, California, USA
    • v1.6) in cerebellar Purkinje and granule cells. Program no. 397.1 presented at the Annual Society for Neuroscience Meeting. October 23-27. San Diego, California, USA. http://sfn.scholarone. com/itin2004/index.html.
    • (2004) Annual Society for Neuroscience Meeting
    • Levin, S.I.1    Meisler, M.H.2
  • 64
    • 4444255505 scopus 로고    scopus 로고
    • Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6)
    • Levin, S.I., and Meisler, M.H. 2004. Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6). Genesis. 39:234-239.
    • (2004) Genesis , vol.39 , pp. 234-239
    • Levin, S.I.1    Meisler, M.H.2
  • 65
  • 66
    • 12144288410 scopus 로고    scopus 로고
    • Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
    • Yang, Y., et al. 2004. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J. Med. Genet. 41:171-174.
    • (2004) J. Med. Genet. , vol.41 , pp. 171-174
    • Yang, Y.1
  • 67
    • 4644268452 scopus 로고    scopus 로고
    • Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy
    • Cummins, T.R., Dib-Hajj, S.D., and Waxman, S.G. 2004. Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. J. Neurosci. 24:8232-8236.
    • (2004) J. Neurosci. , vol.24 , pp. 8232-8236
    • Cummins, T.R.1    Dib-Hajj, S.D.2    Waxman, S.G.3
  • 68
    • 23444443202 scopus 로고    scopus 로고
    • v1.7 in familial erythromelalgia induces bursting of sensory neurons
    • doi:10.1093/brain/awh514
    • v1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. doi:10.1093/brain/awh514.
    • (2005) Brain
    • Dib-Hajj, S.D.1
  • 69
    • 33645169488 scopus 로고    scopus 로고
    • Identification of the gene underlying an inherited disorder of pain sensation
    • Program no. 197 presented. October 26-30. Bechesda, Maryland, USA
    • Fertleman, C.R., Rees, M., Parker, K.A., Barlow, E., and Gardiner, R.M. 2004. Identification of the gene underlying an inherited disorder of pain sensation. Program no. 197 presented at the 54th Annual Meeting of the American Society of Human Genetics. October 26-30. Bechesda, Maryland, USA. http://www.ashg.org/genecics/ashg04s/index.shtml.
    • (2004) 54th Annual Meeting of the American Society of Human Genetics
    • Fertleman, C.R.1    Rees, M.2    Parker, K.A.3    Barlow, E.4    Gardiner, R.M.5
  • 70
    • 4344670206 scopus 로고    scopus 로고
    • Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain
    • Nassar, M.A., et al. 2004, Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain. Proc. Natl. Acad. Sci. U. S. A. 101:12706-12711.
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 12706-12711
    • Nassar, M.A.1
  • 71
    • 0037222315 scopus 로고    scopus 로고
    • Sodium channels SCN1A, SCN2A and SCN3A in familial autism
    • Weiss, L.A., et al. 2003. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol. Psychiatry. 8:186-194.
    • (2003) Mol. Psychiatry , vol.8 , pp. 186-194
    • Weiss, L.A.1
  • 72
    • 7244254394 scopus 로고    scopus 로고
    • Calmodulin mediates Ca2+ sensitivity of sodium channels
    • Kim, J., et al. 2004. Calmodulin mediates Ca2+ sensitivity of sodium channels. J. Biol. Chem. 279:45004-45012.
    • (2004) J. Biol. Chem. , vol.279 , pp. 45004-45012
    • Kim, J.1
  • 73
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski, I., et al. 2004. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119:19-31.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1
  • 74
    • 12944262277 scopus 로고    scopus 로고
    • Suicide attempt and basic mechanisms in neural conduction: Relationships to the SCN8A and VAMP4 genes
    • Wasserman, D., Geijer, T., Rozanov, V., and Wasserman, J. 2005. Suicide attempt and basic mechanisms in neural conduction: relationships to the SCN8A and VAMP4 genes. Am. J. Med. Genet. B Neuropsychiatr. Genet. 133:116-119.
    • (2005) Am. J. Med. Genet. B Neuropsychiatr. Genet. , vol.133 , pp. 116-119
    • Wasserman, D.1    Geijer, T.2    Rozanov, V.3    Wasserman, J.4
  • 75
    • 3142695482 scopus 로고    scopus 로고
    • Sodium currents in subthalamic nucleus neurons from Nav1.6-null mice
    • Do, M.T., and Bean, B.P. 2004. Sodium currents in subthalamic nucleus neurons from Nav1.6-null mice. J. Neurophysiol. 92:726-733.
    • (2004) J. Neurophysiol. , vol.92 , pp. 726-733
    • Do, M.T.1    Bean, B.P.2
  • 76
    • 0035297711 scopus 로고    scopus 로고
    • D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons
    • Maurice, N., Tkatch, T., Meisler, M., Sprunger, L.K., and Surmeier, D.J. 2001. D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. J. Neurosci. 21:2268-2277.
    • (2001) J. Neurosci. , vol.21 , pp. 2268-2277
    • Maurice, N.1    Tkatch, T.2    Meisler, M.3    Sprunger, L.K.4    Surmeier, D.J.5
  • 77
    • 0030834501 scopus 로고    scopus 로고
    • Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice
    • Raman, I.M., Sprunger, L.K., Meisler, M.H., and Bean, B.P. 1997. Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice. Neuron. 19:881-891.
    • (1997) Neuron , vol.19 , pp. 881-891
    • Raman, I.M.1    Sprunger, L.K.2    Meisler, M.H.3    Bean, B.P.4
  • 79
    • 0038240713 scopus 로고    scopus 로고
    • De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
    • Claes, L., et al. 2003. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 21:615-621.
    • (2003) Hum. Mutat. , vol.21 , pp. 615-621
    • Claes, L.1
  • 80
    • 1642539190 scopus 로고    scopus 로고
    • Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy)
    • Guerrini, R., and Aicardi, J. 2003. Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). J. Clin. Neurophysiol. 20:449-461.
    • (2003) J. Clin. Neurophysiol. , vol.20 , pp. 449-461
    • Guerrini, R.1    Aicardi, J.2
  • 81
    • 10744226685 scopus 로고    scopus 로고
    • Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
    • Nabbout, R., et al. 2003. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology. 60:1961-1967.
    • (2003) Neurology , vol.60 , pp. 1961-1967
    • Nabbout, R.1
  • 82
    • 16544394846 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infancy: Clinical analysis and relation to SCN1A mutations in a Japanese cohort
    • Oguni, H., et al. 2005. Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Adv. Neurol. 95:103-117.
    • (2005) Adv. Neurol. , vol.95 , pp. 103-117
    • Oguni, H.1
  • 83
    • 0345304764 scopus 로고    scopus 로고
    • Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?
    • Ohmori, I., et al. 2003. Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Brain Dev. 25:488-493.
    • (2003) Brain Dev. , vol.25 , pp. 488-493
    • Ohmori, I.1
  • 84
    • 0037046207 scopus 로고    scopus 로고
    • Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
    • Sugawara, T., et al. 2002, Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 58:1122-1124.
    • (2002) Neurology , vol.58 , pp. 1122-1124
    • Sugawara, T.1
  • 85
    • 3042792173 scopus 로고    scopus 로고
    • Increased neuronal firing in computer simulations of sodium channel mutations chat cause generalized epilepsy with febrile seizures plus
    • Spampanato, J., Aradi, I., Soltesz, I., and Goldin, A.L. 2004. Increased neuronal firing in computer simulations of sodium channel mutations chat cause generalized epilepsy with febrile seizures plus. J. Neurophysiol. 91:2040-2050.
    • (2004) J. Neurophysiol. , vol.91 , pp. 2040-2050
    • Spampanato, J.1    Aradi, I.2    Soltesz, I.3    Goldin, A.L.4
  • 86
    • 0029789472 scopus 로고    scopus 로고
    • A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting
    • Kohrman, D.C., Smith, M.R., Goldin, A.L., Harris J., and Meisler, M.H. 1996. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J. Neurosci. 16:5993-5999.
    • (1996) J. Neurosci. , vol.16 , pp. 5993-5999
    • Kohrman, D.C.1    Smith, M.R.2    Goldin, A.L.3    Harris, J.4    Meisler, M.H.5
  • 87
    • 0037108736 scopus 로고    scopus 로고
    • Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6)
    • Kearney, J.A., et al. 2002. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Hum. Mol. Genet. 11:2765-2775.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2765-2775
    • Kearney, J.A.1
  • 88
    • 0033363999 scopus 로고    scopus 로고
    • The tetrodoroxin-resistant sodium channel SNS has a specialized function in pain pathways
    • Akopian, A.N., et al. 1999. The tetrodoroxin-resistant sodium channel SNS has a specialized function in pain pathways. Nat. Neurosci. 2:541-548.
    • (1999) Nat. Neurosci. , vol.2 , pp. 541-548
    • Akopian, A.N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.