메뉴 건너뛰기




Volumn 7, Issue 3, 2012, Pages

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL;

EID: 84858784822     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0033549     Document Type: Article
Times cited : (38)

References (67)
  • 1
    • 0035214248 scopus 로고    scopus 로고
    • Intractable epilepsy: Definition and neurobiology
    • Engel J Jr, (2001) Intractable epilepsy: Definition and neurobiology. Epilepsia 42 (Suppl 6): 3.
    • (2001) Epilepsia , vol.42 , Issue.SUPPL. 6 , pp. 3
    • Engel Jr., J.1
  • 2
    • 4644349961 scopus 로고    scopus 로고
    • Characteristics and phenomenology of epileptic partial seizures in dogs: Similarities with human seizure semiology
    • 10.1016/j.eplepsyres.2004.07.009
    • Berendt M, Gredal H, Alving J, (2004) Characteristics and phenomenology of epileptic partial seizures in dogs: Similarities with human seizure semiology. Epilepsy Res 61 (1-3): 167-173 10.1016/j.eplepsyres.2004.07.009.
    • (2004) Epilepsy Res , vol.61 , Issue.1-3 , pp. 167-173
    • Berendt, M.1    Gredal, H.2    Alving, J.3
  • 3
    • 0031015787 scopus 로고    scopus 로고
    • Epilepsy: Getting the diagnosis right
    • Sander JW, O'Donoghue MF, (1997) Epilepsy: Getting the diagnosis right. BMJ 314 (7075): 158-159.
    • (1997) BMJ , vol.314 , Issue.7075 , pp. 158-159
    • Sander, J.W.1    O'Donoghue, M.F.2
  • 5
    • 34547818741 scopus 로고    scopus 로고
    • Premature death, risk factors, and life patterns in dogs with epilepsy
    • Berendt M, Gredal H, Ersboll AK, Alving J, (2007) Premature death, risk factors, and life patterns in dogs with epilepsy. J Vet Intern Med 21 (4): 754-759.
    • (2007) J Vet Intern Med , vol.21 , Issue.4 , pp. 754-759
    • Berendt, M.1    Gredal, H.2    Ersboll, A.K.3    Alving, J.4
  • 6
    • 73349083097 scopus 로고    scopus 로고
    • Epilepsy in border collies: Clinical manifestation, outcome, and mode of inheritance
    • Hulsmeyer V, Zimmermann R, Brauer C, Sauter-Louis C, Fischer A, (2010) Epilepsy in border collies: Clinical manifestation, outcome, and mode of inheritance. J Vet Intern Med 24 (1): 171-178.
    • (2010) J Vet Intern Med , vol.24 , Issue.1 , pp. 171-178
    • Hulsmeyer, V.1    Zimmermann, R.2    Brauer, C.3    Sauter-Louis, C.4    Fischer, A.5
  • 7
    • 71149111174 scopus 로고    scopus 로고
    • Focal epilepsy in the belgian shepherd: Evidence for simple mendelian inheritance
    • doi:10.1111/j.1748-5827.2009.00849.x
    • Berendt M, Gullov CH, Fredholm M, (2009) Focal epilepsy in the belgian shepherd: Evidence for simple mendelian inheritance. J Small Anim Pract 50 (12): 655-661 doi:10.1111/j.1748-5827.2009.00849.x.
    • (2009) J Small Anim Pract , vol.50 , Issue.12 , pp. 655-661
    • Berendt, M.1    Gullov, C.H.2    Fredholm, M.3
  • 8
    • 39749093220 scopus 로고    scopus 로고
    • Evaluating candidate genes in common epilepsies and the nature of evidence
    • doi:10.1111/j.1528-1167.2007.01416.x
    • Pal DK, Strug LJ, Greenberg DA, (2008) Evaluating candidate genes in common epilepsies and the nature of evidence. Epilepsia 49 (3): 386-392 doi:10.1111/j.1528-1167.2007.01416.x.
    • (2008) Epilepsia , vol.49 , Issue.3 , pp. 386-392
    • Pal, D.K.1    Strug, L.J.2    Greenberg, D.A.3
  • 9
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE commission on classification and terminology, 2005-2009
    • doi:10.1111/j.1528-1167.2010.02522.x
    • Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, et al. (2010) Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE commission on classification and terminology, 2005-2009. Epilepsia 51 (4): 676-685 doi:10.1111/j.1528-1167.2010.02522.x.
    • (2010) Epilepsia , vol.51 , Issue.4 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3    Buchhalter, J.4    Cross, J.H.5
  • 10
    • 0036816431 scopus 로고    scopus 로고
    • Clinical presentations of naturally occurring canine seizures: Similarities to human seizures
    • Licht BG, Licht MH, Harper KM, Lin S, Curtin JJ, et al. (2002) Clinical presentations of naturally occurring canine seizures: Similarities to human seizures. Epilepsy Behav 3 (5): 460-470.
    • (2002) Epilepsy Behav , vol.3 , Issue.5 , pp. 460-470
    • Licht, B.G.1    Licht, M.H.2    Harper, K.M.3    Lin, S.4    Curtin, J.J.5
  • 11
    • 0015185107 scopus 로고
    • Sire- and sex-related differences in rates of epileptiform seizures in a purebred beagle dog colony
    • Bielfelt SW, Redman HC, McClellan RO, (1971) Sire- and sex-related differences in rates of epileptiform seizures in a purebred beagle dog colony. Am J Vet Res 32 (12): 2039-2048.
    • (1971) Am J Vet Res , vol.32 , Issue.12 , pp. 2039-2048
    • Bielfelt, S.W.1    Redman, H.C.2    McClellan, R.O.3
  • 12
    • 0032135353 scopus 로고    scopus 로고
    • Idiopathic epilepsy
    • doi:10.1016/S1096-2867(98)80035-2
    • Knowles K, (1998) Idiopathic epilepsy. Clin Tech Small Anim Pract 13 (3): 144-151 doi:10.1016/S1096-2867(98)80035-2.
    • (1998) Clin Tech Small Anim Pract , vol.13 , Issue.3 , pp. 144-151
    • Knowles, K.1
  • 13
    • 11144310727 scopus 로고    scopus 로고
    • Clinical description and mode of inheritance of idiopathic epilepsy in english springer spaniels
    • Patterson EE, Armstrong PJ, O'Brien DP, Roberts MC, Johnson GS, et al. (2005) Clinical description and mode of inheritance of idiopathic epilepsy in english springer spaniels. J Am Vet Med Assoc 226 (1): 54-58.
    • (2005) J Am Vet Med Assoc , vol.226 , Issue.1 , pp. 54-58
    • Patterson, E.E.1    Armstrong, P.J.2    O'Brien, D.P.3    Roberts, M.C.4    Johnson, G.S.5
  • 14
    • 0038482140 scopus 로고    scopus 로고
    • Clinical characteristics and inheritance of idiopathic epilepsy in vizslas
    • Patterson EE, Mickelson JR, Da Y, Roberts MC, McVey AS, et al. (2003) Clinical characteristics and inheritance of idiopathic epilepsy in vizslas. J Vet Intern Med 17 (3): 319-325.
    • (2003) J Vet Intern Med , vol.17 , Issue.3 , pp. 319-325
    • Patterson, E.E.1    Mickelson, J.R.2    Da, Y.3    Roberts, M.C.4    McVey, A.S.5
  • 17
    • 0033159433 scopus 로고    scopus 로고
    • Clinical and genetic investigations of idiopathic epilepsy in the bernese mountain dog
    • Kathmann I, Jaggy A, Busato A, Bartschi M, Gaillard C, (1999) Clinical and genetic investigations of idiopathic epilepsy in the bernese mountain dog. J Small Anim Pract 40 (7): 319-325.
    • (1999) J Small Anim Pract , vol.40 , Issue.7 , pp. 319-325
    • Kathmann, I.1    Jaggy, A.2    Busato, A.3    Bartschi, M.4    Gaillard, C.5
  • 18
    • 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
  • 19
    • 51749095299 scopus 로고    scopus 로고
    • A mutation in hairless dogs implicates FOXI3 in ectodermal development
    • 10.1126/science.1162525
    • Drogemuller C, Karlsson EK, Hytonen MK, Perloski M, Dolf G, et al. (2008) A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321 (5895): 1462 10.1126/science.1162525.
    • (2008) Science , vol.321 , Issue.5895 , pp. 1462
    • Drogemuller, C.1    Karlsson, E.K.2    Hytonen, M.K.3    Perloski, M.4    Dolf, G.5
  • 20
    • 35648953308 scopus 로고    scopus 로고
    • Efficient mapping of mendelian traits in dogs through genome-wide association
    • doi:10.1038/ng.2007.10
    • Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NH, Zody MC, et al. (2007) Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet 39 (11): 1321-1328 doi:10.1038/ng.2007.10.
    • (2007) Nat Genet , vol.39 , Issue.11 , pp. 1321-1328
    • Karlsson, E.K.1    Baranowska, I.2    Wade, C.M.3    Salmon Hillbertz, N.H.4    Zody, M.C.5
  • 21
    • 28644447707 scopus 로고    scopus 로고
    • Genome sequence, comparative analysis and haplotype structure of the domestic dog
    • doi:10.1038/nature04338
    • Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, et al. (2005) Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438 (7069): 803-819 doi:10.1038/nature04338.
    • (2005) Nature , vol.438 , Issue.7069 , pp. 803-819
    • Lindblad-Toh, K.1    Wade, C.M.2    Mikkelsen, T.S.3    Karlsson, E.K.4    Jaffe, D.B.5
  • 22
    • 77649188325 scopus 로고    scopus 로고
    • Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex
    • doi:10.1038/ng.525
    • 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 doi:10.1038/ng.525.
    • (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
  • 24
    • 77957069126 scopus 로고    scopus 로고
    • A canine arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis
    • doi:10.1073/pnas.0914206107
    • 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 doi:10.1073/pnas.0914206107.
    • (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
  • 25
    • 33748966447 scopus 로고    scopus 로고
    • A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile dachshund with neuronal ceroid lipofuscinosis
    • Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, et al. (2006) A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89 (3): 254-260.
    • (2006) Mol Genet Metab , vol.89 , Issue.3 , pp. 254-260
    • Awano, T.1    Katz, M.L.2    O'Brien, D.P.3    Sohar, I.4    Lobel, P.5
  • 26
    • 33645130942 scopus 로고    scopus 로고
    • A mutation in the cathepsin D gene (CTSD) in american bulldogs with neuronal ceroid lipofuscinosis
    • Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, et al. (2006) A mutation in the cathepsin D gene (CTSD) in american bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87 (4): 341-348.
    • (2006) Mol Genet Metab , vol.87 , Issue.4 , pp. 341-348
    • Awano, T.1    Katz, M.L.2    O'Brien, D.P.3    Taylor, J.F.4    Evans, J.5
  • 27
    • 79954629520 scopus 로고    scopus 로고
    • A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in tibetan terriers
    • doi:10.1016/j.nbd.2011.02.009
    • Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, et al. (2011) A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in tibetan terriers. Neurobiol Dis 42 (3): 468-474 doi:10.1016/j.nbd.2011.02.009.
    • (2011) Neurobiol Dis , vol.42 , Issue.3 , pp. 468-474
    • Farias, F.H.1    Zeng, R.2    Johnson, G.S.3    Wininger, F.A.4    Taylor, J.F.5
  • 28
    • 23244466313 scopus 로고    scopus 로고
    • A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in border collie dogs
    • Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, et al. (2005) A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in border collie dogs. Genomics 86 (3): 287-294.
    • (2005) Genomics , vol.86 , Issue.3 , pp. 287-294
    • Melville, S.A.1    Wilson, C.L.2    Chiang, C.S.3    Studdert, V.P.4    Lingaas, F.5
  • 29
    • 79952231932 scopus 로고    scopus 로고
    • A missense mutation in canine CLN6 in an australian shepherd with neuronal ceroid lipofuscinosis
    • doi:10.1155/2011/198042
    • Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, et al. (2011) A missense mutation in canine CLN6 in an australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol 2011: 198042 doi:10.1155/2011/198042.
    • (2011) J Biomed Biotechnol , vol.2011 , pp. 198042
    • Katz, M.L.1    Farias, F.H.2    Sanders, D.N.3    Zeng, R.4    Khan, S.5
  • 30
    • 11144341883 scopus 로고    scopus 로고
    • A mutation in the CLN8 gene in english setter dogs with neuronal ceroid-lipofuscinosis
    • Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, et al. (2005) A mutation in the CLN8 gene in english setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327 (2): 541-547.
    • (2005) Biochem Biophys Res Commun , vol.327 , Issue.2 , pp. 541-547
    • Katz, M.L.1    Khan, S.2    Awano, T.3    Shahid, S.A.4    Siakotos, A.N.5
  • 31
    • 77954660164 scopus 로고    scopus 로고
    • A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a dachshund
    • doi:10.1016/j.ymgme.2010.04.009
    • Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, et al. (2010) A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a dachshund. Mol Genet Metab 100 (4): 349-356 doi:10.1016/j.ymgme.2010.04.009.
    • (2010) Mol Genet Metab , vol.100 , Issue.4 , pp. 349-356
    • Sanders, D.N.1    Farias, F.H.2    Johnson, G.S.3    Chiang, V.4    Cook, J.R.5
  • 33
    • 84856057629 scopus 로고    scopus 로고
    • LGI2 truncation causes a remitting focal epilepsy in dogs
    • doi:10.1371/journal.pgen.1002194
    • Seppala EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, et al. (2011) LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet 7 (7): e1002194 doi:10.1371/journal.pgen.1002194.
    • (2011) PLoS Genet , vol.7 , Issue.7
    • Seppala, E.H.1    Jokinen, T.S.2    Fukata, M.3    Fukata, Y.4    Webster, M.T.5
  • 34
    • 79954991060 scopus 로고    scopus 로고
    • Candidate genes for idiopathic epilepsy in four dog breeds
    • doi:10.1186/1471-2156-12-38
    • Ekenstedt KJ, Patterson EE, Minor KM, Mickelson JR, (2011) Candidate genes for idiopathic epilepsy in four dog breeds. BMC Genet 12: 38 doi:10.1186/1471-2156-12-38.
    • (2011) BMC Genet , vol.12 , pp. 38
    • Ekenstedt, K.J.1    Patterson, E.E.2    Minor, K.M.3    Mickelson, J.R.4
  • 36
    • 77952808366 scopus 로고    scopus 로고
    • Genome-wide linkage scan for loci associated with epilepsy in belgian shepherd dogs
    • doi:10.1186/1471-2156-11-35
    • Oberbauer AM, Belanger JM, Grossman DI, Regan KR, Famula TR, (2010) Genome-wide linkage scan for loci associated with epilepsy in belgian shepherd dogs. BMC Genet 11: 35 doi:10.1186/1471-2156-11-35.
    • (2010) BMC Genet , vol.11 , pp. 35
    • Oberbauer, A.M.1    Belanger, J.M.2    Grossman, D.I.3    Regan, K.R.4    Famula, T.R.5
  • 37
    • 0031201193 scopus 로고    scopus 로고
    • Heritability of epileptic seizures in the belgian tervueren
    • Famula TR, Oberbauer AM, Brown KN, (1997) Heritability of epileptic seizures in the belgian tervueren. J Small Anim Pract 38 (8): 349-352.
    • (1997) J Small Anim Pract , vol.38 , Issue.8 , pp. 349-352
    • Famula, T.R.1    Oberbauer, A.M.2    Brown, K.N.3
  • 38
    • 0032620720 scopus 로고    scopus 로고
    • A glossary of terms most commonly used by clinical electroencephalographers and proposal for the report form for the EEG findings. the international federation of clinical neurophysiology
    • Noachtar S, Binnie C, Ebersole J, Mauguiere F, Sakamoto A, et al. (1999) A glossary of terms most commonly used by clinical electroencephalographers and proposal for the report form for the EEG findings. the international federation of clinical neurophysiology. Electroencephalogr Clin Neurophysiol Suppl 52: 21-41.
    • (1999) Electroencephalogr Clin Neurophysiol Suppl , vol.52 , pp. 21-41
    • Noachtar, S.1    Binnie, C.2    Ebersole, J.3    Mauguiere, F.4    Sakamoto, A.5
  • 39
    • 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
  • 40
    • 37349105076 scopus 로고    scopus 로고
    • Beta activity
    • Philadelphia, PA, Lippincott Williams and Wilkins
    • Stern JM, Engel J, (2005) Beta activity. Atlas of EEG patterns Philadelphia, PA Lippincott Williams and Wilkins pp. 93-94.
    • (2005) Atlas of EEG Patterns , pp. 93-94
    • Stern, J.M.1    Engel, J.2
  • 41
    • 0033990279 scopus 로고    scopus 로고
    • Electroencephalogram of asymptomatic adult subjects
    • Jabbari B, Russo MB, Russo ML, (2000) Electroencephalogram of asymptomatic adult subjects. Clin Neurophysiol 111 (1): 102-105.
    • (2000) Clin Neurophysiol , vol.111 , Issue.1 , pp. 102-105
    • Jabbari, B.1    Russo, M.B.2    Russo, M.L.3
  • 42
    • 84858767436 scopus 로고    scopus 로고
    • Interictal epileptiform discharges
    • Philadelphia, PA, Lippincott Williams and Wilkins
    • Stern JM, Engel J, (2005) Interictal epileptiform discharges. Atlas of EEG patterns Philadelphia, PA Lippincott Williams and Wilkins pp. 161-165.
    • (2005) Atlas of EEG Patterns , pp. 161-165
    • Stern, J.M.1    Engel, J.2
  • 43
    • 33749509955 scopus 로고    scopus 로고
    • Interictal EEG and the diagnosis of epilepsy
    • doi:10.1111/j.1528-1167.2006.00654.x
    • Pillai J, Sperling MR, (2006) Interictal EEG and the diagnosis of epilepsy. Epilepsia 47 (Suppl 1): 14-22 doi:10.1111/j.1528-1167.2006.00654.x.
    • (2006) Epilepsia , vol.47 , Issue.SUPPL. 1 , pp. 14-22
    • Pillai, J.1    Sperling, M.R.2
  • 44
    • 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
  • 45
    • 20744439366 scopus 로고    scopus 로고
    • Transcription factor KLF7 is important for neuronal morphogenesis in selected regions of the nervous system
    • doi:10.1128/MCB.25.13.5699-5711.2005
    • Laub F, Lei L, Sumiyoshi H, Kajimura D, Dragomir C, et al. (2005) Transcription factor KLF7 is important for neuronal morphogenesis in selected regions of the nervous system. Mol Cell Biol 25 (13): 5699-5711 doi:10.1128/MCB.25.13.5699-5711.2005.
    • (2005) Mol Cell Biol , vol.25 , Issue.13 , pp. 5699-5711
    • Laub, F.1    Lei, L.2    Sumiyoshi, H.3    Kajimura, D.4    Dragomir, C.5
  • 46
    • 33846216337 scopus 로고    scopus 로고
    • 2q24-Q31 deletion: Report of a case and review of the literature
    • doi:10.1016/j.ejmg.2006.09.001
    • Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, et al. (2007) 2q24-Q31 deletion: Report of a case and review of the literature. Eur J Med Genet 50 (1): 21-32 doi:10.1016/j.ejmg.2006.09.001.
    • (2007) Eur J Med Genet , vol.50 , Issue.1 , pp. 21-32
    • Pescucci, C.1    Caselli, R.2    Grosso, S.3    Mencarelli, M.A.4    Mari, F.5
  • 47
    • 0031767813 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
    • doi:10.1002/ana.410440607
    • Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennall JA, et al. (1998) Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 44 (6): 890-899 doi:10.1002/ana.410440607.
    • (1998) Ann Neurol , vol.44 , Issue.6 , pp. 890-899
    • Scheffer, I.E.1    Phillips, H.A.2    O'Brien, C.E.3    Saling, M.M.4    Wrennall, J.A.5
  • 48
    • 0033362028 scopus 로고    scopus 로고
    • Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
    • doi:10.1086/302649
    • Xiong L, Labuda M, Li DS, Hudson TJ, Desbiens R, et al. (1999) Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 65 (6): 1698-1710 doi:10.1086/302649.
    • (1999) Am J Hum Genet , vol.65 , Issue.6 , pp. 1698-1710
    • Xiong, L.1    Labuda, M.2    Li, D.S.3    Hudson, T.J.4    Desbiens, R.5
  • 49
    • 0142104303 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci in a dutch family: Clinical characteristics and confirmation of linkage to chromosome 22q
    • Callenbach PM, van den Maagdenberg AM, Hottenga JJ, van den Boogerd EH, de Coo RF, et al. (2003) Familial partial epilepsy with variable foci in a dutch family: Clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 44 (10): 1298-1305.
    • (2003) Epilepsia , vol.44 , Issue.10 , pp. 1298-1305
    • Callenbach, P.M.1    van den Maagdenberg, A.M.2    Hottenga, J.J.3    van den Boogerd, E.H.4    de Coo, R.F.5
  • 50
    • 4544255725 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12
    • doi:10.1111/j.0013-9580.2004.30502.x
    • Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, et al. (2004) Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12. Epilepsia 45 (9): 1054-1060 doi:10.1111/j.0013-9580.2004.30502.x.
    • (2004) Epilepsia , vol.45 , Issue.9 , pp. 1054-1060
    • Berkovic, S.F.1    Serratosa, J.M.2    Phillips, H.A.3    Xiong, L.4    Andermann, E.5
  • 51
    • 77956307395 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12
    • doi:10.1111/j.1528-1167.2010.02680.x
    • Morales-Corraliza J, Gomez-Garre P, Sanz R, Diaz-Otero F, Gutierrez-Delicado E, et al. (2010) Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12. Epilepsia 51 (9): 1910-1914 doi:10.1111/j.1528-1167.2010.02680.x.
    • (2010) Epilepsia , vol.51 , Issue.9 , pp. 1910-1914
    • Morales-Corraliza, J.1    Gomez-Garre, P.2    Sanz, R.3    Diaz-Otero, F.4    Gutierrez-Delicado, E.5
  • 52
    • 4043160689 scopus 로고    scopus 로고
    • Chromosomal mapping of genetic loci controlling absence epilepsy phenotypes in the WAG/Rij rat
    • doi:10.1111/j.0013-9580.2004.13104.x
    • Gauguier D, van Luijtelaar G, Bihoreau MT, Wilder SP, Godfrey RF, et al. (2004) Chromosomal mapping of genetic loci controlling absence epilepsy phenotypes in the WAG/Rij rat. Epilepsia 45 (8): 908-915 doi:10.1111/j.0013-9580.2004.13104.x.
    • (2004) Epilepsia , vol.45 , Issue.8 , pp. 908-915
    • Gauguier, D.1    van Luijtelaar, G.2    Bihoreau, M.T.3    Wilder, S.P.4    Godfrey, R.F.5
  • 53
    • 24144498733 scopus 로고    scopus 로고
    • Sacred disease secrets revealed: The genetics of human epilepsy
    • doi:10.1093/hmg/ddi250
    • Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, et al. (2005) Sacred disease secrets revealed: The genetics of human epilepsy. Hum Mol Genet 14 (17): 2491-2500 doi:10.1093/hmg/ddi250.
    • (2005) Hum Mol Genet , vol.14 , Issue.17 , pp. 2491-2500
    • Turnbull, J.1    Lohi, H.2    Kearney, J.A.3    Rouleau, G.A.4    Delgado-Escueta, A.V.5
  • 54
    • 10644279904 scopus 로고    scopus 로고
    • ADAM23 is a cell-surface glycoprotein expressed by central nervous system neurons
    • Goldsmith AP, Gossage SJ, ffrench-Constant C, (2004) ADAM23 is a cell-surface glycoprotein expressed by central nervous system neurons. J Neurosci Res 78 (5): 647-658.
    • (2004) J Neurosci Res , vol.78 , Issue.5 , pp. 647-658
    • Goldsmith, A.P.1    Gossage, S.J.2
  • 55
    • 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
  • 56
    • 77649259534 scopus 로고    scopus 로고
    • Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy
    • doi:10.1073/pnas.0914537107
    • 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 doi:10.1073/pnas.0914537107.
    • (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
  • 57
    • 78651453513 scopus 로고    scopus 로고
    • Kruppel-like factor 7 is required for olfactory bulb dopaminergic neuron development
    • doi:10.1016/j.yexcr.2010.11.006
    • Caiazzo M, Colucci-D'Amato L, Volpicelli F, Speranza L, Petrone C, et al. (2011) Kruppel-like factor 7 is required for olfactory bulb dopaminergic neuron development. Exp Cell Res 317 (4): 464-473 doi:10.1016/j.yexcr.2010.11.006.
    • (2011) Exp Cell Res , vol.317 , Issue.4 , pp. 464-473
    • Caiazzo, M.1    Colucci-D'Amato, L.2    Volpicelli, F.3    Speranza, L.4    Petrone, C.5
  • 58
    • 33846991596 scopus 로고    scopus 로고
    • The dystrotelin, dystrophin and dystrobrevin superfamily: New paralogues and old isoforms
    • doi:10.1186/1471-2164-8-19
    • Jin H, Tan S, Hermanowski J, Bohm S, Pacheco S, et al. (2007) The dystrotelin, dystrophin and dystrobrevin superfamily: New paralogues and old isoforms. BMC Genomics 8: 19 doi:10.1186/1471-2164-8-19.
    • (2007) BMC Genomics , vol.8 , pp. 19
    • Jin, H.1    Tan, S.2    Hermanowski, J.3    Bohm, S.4    Pacheco, S.5
  • 59
    • 77953229314 scopus 로고    scopus 로고
    • Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
    • doi:10.1016/j.ymgme.2010.03.015
    • Hoefs SJ, Skjeldal OH, Rodenburg RJ, Nedregaard B, van Kaauwen EP, et al. (2010) Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Mol Genet Metab 100 (3): 251-256 doi:10.1016/j.ymgme.2010.03.015.
    • (2010) Mol Genet Metab , vol.100 , Issue.3 , pp. 251-256
    • Hoefs, S.J.1    Skjeldal, O.H.2    Rodenburg, R.J.3    Nedregaard, B.4    van Kaauwen, E.P.5
  • 60
    • 50949096038 scopus 로고    scopus 로고
    • FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency
    • doi:10.1016/j.ajhg.2008.08.009
    • Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, et al. (2008) FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet 83 (3): 415-423 doi:10.1016/j.ajhg.2008.08.009.
    • (2008) Am J Hum Genet , vol.83 , Issue.3 , pp. 415-423
    • Ghezzi, D.1    Saada, A.2    D'Adamo, P.3    Fernandez-Vizarra, E.4    Gasparini, P.5
  • 61
    • 33645651294 scopus 로고    scopus 로고
    • Magnetic resonance imaging findings in finnish spitz dogs with focal epilepsy
    • Viitmaa R, Cizinauskas S, Bergamasco LA, Kuusela E, Pascoe P, et al. (2006) Magnetic resonance imaging findings in finnish spitz dogs with focal epilepsy. J Vet Intern Med 20 (2): 305-310.
    • (2006) J Vet Intern Med , vol.20 , Issue.2 , pp. 305-310
    • Viitmaa, R.1    Cizinauskas, S.2    Bergamasco, L.A.3    Kuusela, E.4    Pascoe, P.5
  • 62
    • 0041922366 scopus 로고    scopus 로고
    • Quantitative electroencephalographic findings in beagles anaesthetized with propofol
    • Bergamasco L, Accatino A, Priano L, Neiger-Aeschbacher G, Cizinauskas S, et al. (2003) Quantitative electroencephalographic findings in beagles anaesthetized with propofol. Vet J 166 (1): 58-66.
    • (2003) Vet J , vol.166 , Issue.1 , pp. 58-66
    • Bergamasco, L.1    Accatino, A.2    Priano, L.3    Neiger-Aeschbacher, G.4    Cizinauskas, S.5
  • 63
    • 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
  • 64
    • 33747865461 scopus 로고    scopus 로고
    • Applications for protein sequence-function evolution data: MRNA/protein expression analysis and coding SNP scoring tools
    • (Web Server issue)
    • Thomas PD, Kejariwal A, Guo N, Mi H, Campbell MJ, et al. (2006) Applications for protein sequence-function evolution data: MRNA/protein expression analysis and coding SNP scoring tools. Nucleic Acids Res 34(Web Server issue): W645-50.
    • (2006) Nucleic Acids Res , vol.34
    • Thomas, P.D.1    Kejariwal, A.2    Guo, N.3    Mi, H.4    Campbell, M.J.5
  • 65
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • doi:10.1038/nmeth0410-248
    • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7 (4): 248-249 doi:10.1038/nmeth0410-248.
    • (2010) Nat Methods , vol.7 , Issue.4 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3    Ramensky, V.E.4    Gerasimova, A.5
  • 67
    • 0036581160 scopus 로고    scopus 로고
    • Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR
    • Pfaffl MW, Horgan GW, Dempfle L, (2002) Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR. Nucleic Acids Res 30 (9): e36.
    • (2002) Nucleic Acids Res , vol.30 , Issue.9
    • Pfaffl, M.W.1    Horgan, G.W.2    Dempfle, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.