메뉴 건너뛰기




Volumn 7, Issue 7, 2011, Pages

Lgi2 truncation causes a remitting focal epilepsy in dogs

(16)  Seppälä, Eija H a,b   Jokinen, Tarja S a   Fukata, Masaki c   Fukata, Yuko c,d   Webster, Matthew T e   Karlsson, Elinor K f,g   Kilpinen, Sami K a   Steffen, Frank h   Dietschi, Elisabeth i   Leeb, Tosso i   Eklund, Ranja a,b   Zhao, Xiaochu j   Rilstone, Jennifer J j   Lindblad Toh, Kerstin e,f   Minassian, Berge A j   Lohi, Hannes a,b  


Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; NERVE PROTEIN;

EID: 84856057629     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002194     Document Type: Article
Times cited : (86)

References (37)
  • 1
    • 33646381622 scopus 로고    scopus 로고
    • Developmental remodelling of the lemniscal synapse in the ventral basal thalamus of the mouse
    • Arsenault D, Zhang ZW, (2006) Developmental remodelling of the lemniscal synapse in the ventral basal thalamus of the mouse. J Physiol 573 (Pt 1): 121-132.
    • (2006) J Physiol , vol.573 , Issue.Pt 1 , pp. 121-132
    • Arsenault, D.1    Zhang, Z.W.2
  • 2
    • 0025113285 scopus 로고
    • Morphometric study of human cerebral cortex development
    • Huttenlocher PR, (1990) Morphometric study of human cerebral cortex development. Neuropsychologia 28 (6): 517-527.
    • (1990) Neuropsychologia , vol.28 , Issue.6 , pp. 517-527
    • Huttenlocher, P.R.1
  • 4
    • 0003426793 scopus 로고    scopus 로고
    • Epileptic syndromes in infancy, childhood and adolescence (4th edition)
    • John Libbey Eurotext
    • Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, et al.eds. (2005) Epileptic syndromes in infancy, childhood and adolescence (4th edition). John Libbey Eurotext.
    • (2005)
    • Roger, J.1    Bureau, M.2    Dravet, C.3    Genton, P.4    Tassinari, C.A.5
  • 7
    • 18544364797 scopus 로고    scopus 로고
    • Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
    • Cossette P, Liu L, Brisebois K, Dong H, Lortie A, et al. (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31 (2): 184-189.
    • (2002) Nat Genet , vol.31 , Issue.2 , pp. 184-189
    • Cossette, P.1    Liu, L.2    Brisebois, K.3    Dong, H.4    Lortie, A.5
  • 8
    • 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 (3): 335-341.
    • (2002) Nat Genet , vol.30 , Issue.3 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3    Winawer, M.4    Barker-Cummings, C.5
  • 9
    • 54749083120 scopus 로고    scopus 로고
    • Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features
    • Rosanoff MJ, Ottman R, (2008) Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 71 (8): 567-571.
    • (2008) Neurology , vol.71 , Issue.8 , pp. 567-571
    • Rosanoff, M.J.1    Ottman, R.2
  • 10
    • 45949088634 scopus 로고    scopus 로고
    • Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
    • Medina MT, Suzuki T, Alonso ME, Duron RM, Martinez-Juarez IE, et al. (2008) Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 70 (22 Pt 2): 2137-2144.
    • (2008) Neurology , vol.70 , Issue.22 Pt , pp. 2137-2144
    • Medina, M.T.1    Suzuki, T.2    Alonso, M.E.3    Duron, R.M.4    Martinez-Juarez, I.E.5
  • 11
    • 63749094521 scopus 로고    scopus 로고
    • LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy
    • Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, et al. (2009) LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum Mutat 30 (4): 530-536.
    • (2009) Hum Mutat , vol.30 , Issue.4 , pp. 530-536
    • Nobile, C.1    Michelucci, R.2    Andreazza, S.3    Pasini, E.4    Tosatto, S.C.5
  • 14
    • 62449225007 scopus 로고    scopus 로고
    • Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis
    • Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, et al. (2009) Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106 (8): 2794-2799.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.8 , pp. 2794-2799
    • Awano, T.1    Johnson, G.S.2    Wade, C.M.3    Katz, M.L.4    Johnson, G.C.5
  • 15
    • 77957069126 scopus 로고    scopus 로고
    • A canine arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis
    • Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, et al. (2010) A canine arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107 (33): 14775-14780.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.33 , pp. 14775-14780
    • Abitbol, M.1    Thibaud, J.L.2    Olby, N.J.3    Hitte, C.4    Puech, J.P.5
  • 17
    • 21244505337 scopus 로고    scopus 로고
    • ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
    • Senechal KR, Thaller C, Noebels JL, (2005) ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet 14 (12): 1613-1620.
    • (2005) Hum Mol Genet , vol.14 , Issue.12 , pp. 1613-1620
    • Senechal, K.R.1    Thaller, C.2    Noebels, J.L.3
  • 18
    • 33749038646 scopus 로고    scopus 로고
    • Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission
    • Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, et al. (2006) Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 313 (5794): 1792-1795.
    • (2006) Science , vol.313 , Issue.5794 , pp. 1792-1795
    • Fukata, Y.1    Adesnik, H.2    Iwanaga, T.3    Bredt, D.S.4    Nicoll, R.A.5
  • 19
    • 54949123847 scopus 로고    scopus 로고
    • LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11
    • Sagane K, Ishihama Y, Sugimoto H, (2008) LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11. Int J Biol Sci 4 (6): 387-396.
    • (2008) Int J Biol Sci , vol.4 , Issue.6 , pp. 387-396
    • Sagane, K.1    Ishihama, Y.2    Sugimoto, H.3
  • 20
    • 70949084223 scopus 로고    scopus 로고
    • Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain
    • Herranz-Perez V, Olucha-Bordonau FE, Morante-Redolat JM, Perez-Tur J, (2010) Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain. Brain Res 1307: 177-194.
    • (2010) Brain Res , vol.1307 , pp. 177-194
    • Herranz-Perez, V.1    Olucha-Bordonau, F.E.2    Morante-Redolat, J.M.3    Perez-Tur, J.4
  • 21
    • 70350494929 scopus 로고    scopus 로고
    • Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy
    • Zhou YD, Lee S, Jin Z, Wright M, Smith SE, et al. (2009) Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. Nat Med 15 (10): 1208-1214.
    • (2009) Nat Med , vol.15 , Issue.10 , pp. 1208-1214
    • Zhou, Y.D.1    Lee, S.2    Jin, Z.3    Wright, M.4    Smith, S.E.5
  • 22
    • 77649259534 scopus 로고    scopus 로고
    • Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy
    • Fukata Y, Lovero KL, Iwanaga T, Watanabe A, Yokoi N, et al. (2010) Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. Proc Natl Acad Sci U S A 107 (8): 3799-3804.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.8 , pp. 3799-3804
    • Fukata, Y.1    Lovero, K.L.2    Iwanaga, T.3    Watanabe, A.4    Yokoi, N.5
  • 23
    • 59149087550 scopus 로고    scopus 로고
    • Prevalence and characteristics of epilepsy in the belgian shepherd variants groenendael and tervueren born in denmark 1995-2004
    • Berendt M, Gullov CH, Christensen SL, Gudmundsdottir H, Gredal H, et al. (2008) Prevalence and characteristics of epilepsy in the belgian shepherd variants groenendael and tervueren born in denmark 1995-2004. Acta Vet Scand 50: 51.
    • (2008) Acta Vet Scand , vol.50 , pp. 51
    • Berendt, M.1    Gullov, C.H.2    Christensen, S.L.3    Gudmundsdottir, H.4    Gredal, H.5
  • 25
    • 37349015922 scopus 로고    scopus 로고
    • Electroencephalography findings in healthy and finnish spitz dogs with epilepsy: Visual and background quantitative analysis
    • Jeserevics J, Viitmaa R, Cizinauskas S, Sainio K, Jokinen TS, et al. (2007) Electroencephalography findings in healthy and finnish spitz dogs with epilepsy: Visual and background quantitative analysis. J Vet Intern Med 21 (6): 1299-1306.
    • (2007) J Vet Intern Med , vol.21 , Issue.6 , pp. 1299-1306
    • Jeserevics, J.1    Viitmaa, R.2    Cizinauskas, S.3    Sainio, K.4    Jokinen, T.S.5
  • 26
    • 77649188325 scopus 로고    scopus 로고
    • Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex
    • Wilbe M, Jokinen P, Truve K, Seppala EH, Karlsson EK, et al. (2010) Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Nat Genet 42 (3): 250-254.
    • (2010) Nat Genet , vol.42 , Issue.3 , pp. 250-254
    • Wilbe, M.1    Jokinen, P.2    Truve, K.3    Seppala, E.H.4    Karlsson, E.K.5
  • 27
    • 70350751418 scopus 로고    scopus 로고
    • LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology
    • Owuor K, Harel NY, Englot DJ, Hisama F, Blumenfeld H, et al. (2009) LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology. Mol Cell Neurosci 42 (4): 448-457.
    • (2009) Mol Cell Neurosci , vol.42 , Issue.4 , pp. 448-457
    • Owuor, K.1    Harel, N.Y.2    Englot, D.J.3    Hisama, F.4    Blumenfeld, H.5
  • 28
    • 77956363288 scopus 로고    scopus 로고
    • Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice
    • Chabrol E, Navarro V, Provenzano G, Cohen I, Dinocourt C, et al. (2010) Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice. Brain 133 (9): 2749-2762.
    • (2010) Brain , vol.133 , Issue.9 , pp. 2749-2762
    • Chabrol, E.1    Navarro, V.2    Provenzano, G.3    Cohen, I.4    Dinocourt, C.5
  • 29
    • 77952477811 scopus 로고    scopus 로고
    • Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability
    • Yu YE, Wen L, Silva J, Li Z, Head K, et al. (2010) Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability. Hum Mol Genet 19 (9): 1702-1711.
    • (2010) Hum Mol Genet , vol.19 , Issue.9 , pp. 1702-1711
    • Yu, Y.E.1    Wen, L.2    Silva, J.3    Li, Z.4    Head, K.5
  • 30
    • 29444461331 scopus 로고    scopus 로고
    • The claw paw mutation reveals a role for Lgi4 in peripheral nerve development
    • Bermingham JR Jr, Shearin H, Pennington J, O'Moore J, Jaegle M, et al. (2006) The claw paw mutation reveals a role for Lgi4 in peripheral nerve development. Nat Neurosci 9 (1): 76-84.
    • (2006) Nat Neurosci , vol.9 , Issue.1 , pp. 76-84
    • Bermingham Jr., J.R.1    Shearin, H.2    Pennington, J.3    O'Moore, J.4    Jaegle, M.5
  • 31
    • 77953293288 scopus 로고    scopus 로고
    • Leucine-rich glioma inactivated 3 induces neurite outgrowth through akt and focal adhesion kinase
    • Park WJ, Lim YY, Kwon NS, Baek KJ, Kim DS, et al. (2010) Leucine-rich glioma inactivated 3 induces neurite outgrowth through akt and focal adhesion kinase. Neurochem Res 35 (5): 789-796.
    • (2010) Neurochem Res , vol.35 , Issue.5 , pp. 789-796
    • Park, W.J.1    Lim, Y.Y.2    Kwon, N.S.3    Baek, K.J.4    Kim, D.S.5
  • 32
    • 33646020685 scopus 로고    scopus 로고
    • Mouse LGI3 gene: Expression in brain and promoter analysis
    • Lee SE, Lee AY, Park WJ, Jun DH, Kwon NS, et al. (2006) Mouse LGI3 gene: Expression in brain and promoter analysis. Gene 372: 8-17.
    • (2006) Gene , vol.372 , pp. 8-17
    • Lee, S.E.1    Lee, A.Y.2    Park, W.J.3    Jun, D.H.4    Kwon, N.S.5
  • 33
    • 77949411306 scopus 로고    scopus 로고
    • Adam22 is a major neuronal receptor for Lgi4-mediated schwann cell signaling
    • Ozkaynak E, Abello G, Jaegle M, van Berge L, Hamer D, et al. (2010) Adam22 is a major neuronal receptor for Lgi4-mediated schwann cell signaling. J Neurosci 30 (10): 3857-3864.
    • (2010) J Neurosci , vol.30 , Issue.10 , pp. 3857-3864
    • Ozkaynak, E.1    Abello, G.2    Jaegle, M.3    van Berge, L.4    Hamer, D.5
  • 34
    • 52049117874 scopus 로고    scopus 로고
    • Leucine-rich glioma inactivated 3 associates with syntaxin 1
    • Park WJ, Lee SE, Kwon NS, Baek KJ, Kim DS, et al. (2008) Leucine-rich glioma inactivated 3 associates with syntaxin 1. Neurosci Lett 444 (3): 240-244.
    • (2008) Neurosci Lett , vol.444 , Issue.3 , pp. 240-244
    • Park, W.J.1    Lee, S.E.2    Kwon, N.S.3    Baek, K.J.4    Kim, D.S.5
  • 35
    • 77955338789 scopus 로고    scopus 로고
    • Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: A case series
    • Lai M, Huijbers MG, Lancaster E, Graus F, Bataller L, et al. (2010) Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: A case series. Lancet Neurol 9 (8): 776-785.
    • (2010) Lancet Neurol , vol.9 , Issue.8 , pp. 776-785
    • Lai, M.1    Huijbers, M.G.2    Lancaster, E.3    Graus, F.4    Bataller, L.5
  • 36
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 (3): 559-575.
    • (2007) Am J Hum Genet , vol.81 , Issue.3 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5
  • 37
    • 54349101605 scopus 로고    scopus 로고
    • Systematic bioinformatic analysis of expression levels of 17,330 human genes across 9,783 samples from 175 types of healthy and pathological tissues
    • Kilpinen S, Autio R, Ojala K, Iljin K, Bucher E, et al. (2008) Systematic bioinformatic analysis of expression levels of 17,330 human genes across 9,783 samples from 175 types of healthy and pathological tissues. Genome Biol 9 (9): R139.
    • (2008) Genome Biol , vol.9 , Issue.9
    • Kilpinen, S.1    Autio, R.2    Ojala, K.3    Iljin, K.4    Bucher, E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.