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Volumn 16, Issue 9, 2005, Pages 683-690

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL;

EID: 23644451209     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-005-0049-4     Document Type: Article
Times cited : (52)

References (38)
  • 1
    • 0035956488 scopus 로고    scopus 로고
    • Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    • Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, 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    Ge, Q.2    Desai, R.3    Ryther, R.4    Bazyk, A.5
  • 2
    • 0037443866 scopus 로고    scopus 로고
    • Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb
    • Adamska M, MacDonald BT, Meisler MH (2003) Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Dev Biol 255, 350-362
    • (2003) Dev Biol , vol.255 , pp. 350-362
    • Adamska, M.1    MacDonald, B.T.2    Meisler, M.H.3
  • 3
    • 0037297575 scopus 로고    scopus 로고
    • Genetic loci modulating fitness and life span in Caenorhabditis elegans: Categorical trait interval mapping in CL2a x Bergerac-BO recombinant-inbred worms
    • Ayyadevara S, Ayyadevara R, Vertino A, Galecki A, Thaden JJ, et al. (2003) Genetic loci modulating fitness and life span in Caenorhabditis elegans: categorical trait interval mapping in CL2a x Bergerac-BO recombinant-inbred worms. Genetics 163, 557-570
    • (2003) Genetics , vol.163 , pp. 557-570
    • Ayyadevara, S.1    Ayyadevara, R.2    Vertino, A.3    Galecki, A.4    Thaden, J.J.5
  • 4
    • 0035733762 scopus 로고    scopus 로고
    • Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
    • Backman SA, Stambolic V, Suzuki A, Haight J, Elia A, et al. (2001) Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 29, 396-403
    • (2001) Nat Genet , vol.29 , pp. 396-403
    • Backman, S.A.1    Stambolic, V.2    Suzuki, A.3    Haight, J.4    Elia, A.5
  • 5
    • 11144357909 scopus 로고    scopus 로고
    • Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility
    • Buono RJ, Lohoff FW, Sander T, Sperling MR, O'Connor MJ, et al. (2004) Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res 58, 175-183
    • (2004) Epilepsy Res , vol.58 , pp. 175-183
    • Buono, R.J.1    Lohoff, F.W.2    Sander, T.3    Sperling, M.R.4    O'Connor, M.J.5
  • 6
    • 13444304265 scopus 로고    scopus 로고
    • Expression analysis of metabotropic glutamate receptors I and III in mouse strains with different susceptibility to experimental temporal lobe epilepsy
    • Chen J, Larionov S, Pitsch J, Hoerold N, Ullmann C, et al. (2005) Expression analysis of metabotropic glutamate receptors I and III in mouse strains with different susceptibility to experimental temporal lobe epilepsy. Neurosci Lett 375, 192-197
    • (2005) Neurosci Lett , vol.375 , pp. 192-197
    • Chen, J.1    Larionov, S.2    Pitsch, J.3    Hoerold, N.4    Ullmann, C.5
  • 7
    • 0028151261 scopus 로고
    • Empirical threshold values for quantitative trait mapping
    • Churchill GA, Doerge RW (1994) Empirical threshold values for quantitative trait mapping. Genetics 138, 963-971
    • (1994) Genetics , vol.138 , pp. 963-971
    • Churchill, G.A.1    Doerge, R.W.2
  • 8
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, 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    MacDonald, B.T.2    Meisler, M.H.3    Baulac, S.4    Huberfeld, G.5
  • 10
    • 0033567071 scopus 로고    scopus 로고
    • Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice
    • Ferraro TN, Golden GT, Smith GG, St Jean P, Schork NJ, 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    Golden, G.T.2    Smith, G.G.3    St Jean, P.4    Schork, N.J.5
  • 11
    • 0034964492 scopus 로고    scopus 로고
    • Quantitative genetic study of maximal electroshock seizure threshold in mice: Evidence for a major seizure susceptibility locus on distal chromosome 1
    • Ferraro TN, Golden GT, Smith GG, Longman RL, Snyder RL, et al. (2001) Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1. Genomics 75, 35-42
    • (2001) Genomics , vol.75 , pp. 35-42
    • Ferraro, T.N.1    Golden, G.T.2    Smith, G.G.3    Longman, R.L.4    Snyder, R.L.5
  • 12
  • 13
    • 11144357228 scopus 로고    scopus 로고
    • Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: Nomination of Kcnj10 as a causative gene
    • Ferraro TN, Golden GT, Smith GG, Martin JF, Lohoff FW, 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    Golden, G.T.2    Smith, G.G.3    Martin, J.F.4    Lohoff, F.W.5
  • 16
    • 0034746137 scopus 로고    scopus 로고
    • A simple and fast alternative to the EM algorithm for incomplete categorical data and latent class models
    • Galecki AT, ten Have TR, Molenberghs G (2001) A simple and fast alternative to the EM algorithm for incomplete categorical data and latent class models. Comput Stat Data Anal 35, 265-281
    • (2001) Comput Stat Data Anal , vol.35 , pp. 265-281
    • Galecki, A.T.1    Ten Have, T.R.2    Molenberghs, G.3
  • 18
    • 18544376557 scopus 로고    scopus 로고
    • Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
    • Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, et al. (2002) Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 30, 335-341
    • (2002) Nat Genet , vol.30 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3    Winawer, M.4    Barker-Cummings, C.5
  • 19
    • 0035863416 scopus 로고    scopus 로고
    • A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
    • Kearney JA, Plummer NW, Smith MR, Kapur J, Cummins TR, 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    Plummer, N.W.2    Smith, M.R.3    Kapur, J.4    Cummins, T.R.5
  • 20
    • 4344710223 scopus 로고    scopus 로고
    • Genetic and phenotypic analysis of seizure susceptibility in PL/J mice
    • Kitami T, Ernest S, Gallaugher L, Friedman L, Frankel WN, et al. (2004) Genetic and phenotypic analysis of seizure susceptibility in PL/J mice. Mamm Genome 15, 698-703
    • (2004) Mamm Genome , vol.15 , pp. 698-703
    • Kitami, T.1    Ernest, S.2    Gallaugher, L.3    Friedman, L.4    Frankel, W.N.5
  • 21
    • 0028899938 scopus 로고
    • A nonparametric approach for mapping quantitative trait loci
    • Kruglyak L, Lander ES (1995) A nonparametric approach for mapping quantitative trait loci. Genetics 139, 1421-1428
    • (1995) Genetics , vol.139 , pp. 1421-1428
    • Kruglyak, L.1    Lander, E.S.2
  • 22
    • 0034672582 scopus 로고    scopus 로고
    • Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains
    • Legare ME, Frankel WN (2000) Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains. Genomics 70, 62-65
    • (2000) Genomics , vol.70 , pp. 62-65
    • Legare, M.E.1    Frankel, W.N.2
  • 23
    • 0033975420 scopus 로고    scopus 로고
    • A major effect QTL determined by multiple genes in epileptic EL mice
    • Legare ME, Bartlett FS 2nd, Frankel WN (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
  • 25
    • 2342436339 scopus 로고    scopus 로고
    • Hypomorphic expression of Dkk1 in the doubleridge mouse: Dose dependence and compensatory interactions with Lrp6
    • MacDonald BT, Adamska M, Meisler MH (2004) Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development 131, 2543-2552
    • (2004) Development , vol.131 , pp. 2543-2552
    • MacDonald, B.T.1    Adamska, M.2    Meisler, M.H.3
  • 27
    • 23644439941 scopus 로고    scopus 로고
    • Sodium channel mutations in epilepsy and other neurological disorders
    • Meisler MH, Kearney JA (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
  • 28
    • 0033361895 scopus 로고    scopus 로고
    • Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33
    • Moulard B, Guipponi M, Chaigne D, Mouthon D, Buresi C, 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    Guipponi, M.2    Chaigne, D.3    Mouthon, D.4    Buresi, C.5
  • 29
    • 18044399916 scopus 로고    scopus 로고
    • Dickkopf1 is required for embryonic head induction and limb morphogenesis in the mouse
    • Mukhopadhyay M, Shtrom S, Rodriguez-Esteban C, Chen L, Tsukui T, et al. (2001) Dickkopf1 is required for embryonic head induction and limb morphogenesis in the mouse. Dev Cell 1, 423-434
    • (2001) Dev Cell , vol.1 , pp. 423-434
    • Mukhopadhyay, M.1    Shtrom, S.2    Rodriguez-Esteban, C.3    Chen, L.4    Tsukui, T.5
  • 30
    • 0032402234 scopus 로고    scopus 로고
    • Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A
    • Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, et al. (1998) Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics 54, 287-296
    • (1998) Genomics , vol.54 , pp. 287-296
    • Plummer, N.W.1    Galt, J.2    Jones, J.M.3    Burgess, D.L.4    Sprunger, L.K.5
  • 32
    • 3843081736 scopus 로고    scopus 로고
    • Genetic control of sensitivity to hippocampal cell death induced by kainic acid: A quantitative trait loci analysis
    • Schauwecker PE, Williams RW, Santos JB (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
  • 33
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305, 525-528
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3    Alexander, J.4    Young, J.5
  • 34
    • 0018875341 scopus 로고
    • Genetic analysis of audiogenic seizure susceptibility in C57BL/6J x DBA/2J recombinant inbred strains of mice
    • Seyfried TN, Yu RK, Glaser GH (1980) Genetic analysis of audiogenic seizure susceptibility in C57BL/6J x DBA/2J recombinant inbred strains of mice. Genetics 94, 701-718
    • (1980) Genetics , vol.94 , pp. 701-718
    • Seyfried, T.N.1    Yu, R.K.2    Glaser, G.H.3
  • 36
    • 0030855929 scopus 로고    scopus 로고
    • Interaction between the sodium channel inactivation linker and domain III S4-S5
    • Smith MR, Goldin AL (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
  • 38
    • 12344326485 scopus 로고    scopus 로고
    • Cryptic causation of human disease: Reading between the (germ) lines
    • Weiss KM (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


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