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Volumn 40, Issue 10, 1999, Pages 1329-1352

Recent advances in the genetics of epilepsy: Insights from human and animal studies

Author keywords

Animal models; Epilepsy; Genetics; Human; Pathophysiology

Indexed keywords

BIOTINIDASE; PYRIDOXINE;

EID: 0032820822     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1528-1157.1999.tb02004.x     Document Type: Review
Times cited : (44)

References (296)
  • 1
    • 0028082058 scopus 로고
    • Progress in mapping human epilepsy genes
    • Delgado-Escueta AV, Serratosa JM, Liu A, et al. Progress in mapping human epilepsy genes. Epilepsia 1994;35(suppl 1):S29-40.
    • (1994) Epilepsia , vol.35 , Issue.1 SUPPL.
    • Delgado-Escueta, A.V.1    Serratosa, J.M.2    Liu, A.3
  • 4
    • 0031050270 scopus 로고    scopus 로고
    • Epilepsies with single gene inheritance
    • Berkovic SF, Scheffer IE. Epilepsies with single gene inheritance. Brain Dev 1997;19:13-8.
    • (1997) Brain Dev , vol.19 , pp. 13-18
    • Berkovic, S.F.1    Scheffer, I.E.2
  • 6
    • 0002971916 scopus 로고    scopus 로고
    • Genetics of epilepsy
    • Martin JB, ed. New York: Scientific American Inc
    • McNamara JO. Genetics of epilepsy. In: Martin JB, ed. Molecular neurobiology. New York: Scientific American Inc, 1998:75-93.
    • (1998) Molecular Neurobiology , pp. 75-93
    • McNamara, J.O.1
  • 7
    • 0029927015 scopus 로고    scopus 로고
    • Shaking down new epilepsy genes
    • Allen KM, Walsh C. Shaking down new epilepsy genes. Nat Med 1996;2:516-8.
    • (1996) Nat Med , vol.2 , pp. 516-518
    • Allen, K.M.1    Walsh, C.2
  • 8
    • 0030070426 scopus 로고    scopus 로고
    • Targeting epilepsy genes
    • Noebels JL. Targeting epilepsy genes. Neuron 1996;16:241-4.
    • (1996) Neuron , vol.16 , pp. 241-244
    • Noebels, J.L.1
  • 9
    • 0030920704 scopus 로고    scopus 로고
    • Genetic EEG traits in the pathogenesis of the epilepsies
    • Doose H. Genetic EEG traits in the pathogenesis of the epilepsies. J Epilepsy 1997;10:97-110.
    • (1997) J Epilepsy , vol.10 , pp. 97-110
    • Doose, H.1
  • 10
    • 0005192114 scopus 로고    scopus 로고
    • EEG traits
    • Engel J, Pedley TA, eds. Philadelphia: Lippincott-Raven
    • Pedley TA. EEG traits. In: Engel J, Pedley TA, eds. Epilepsy: a Comprehensive textbook. Philadelphia: Lippincott-Raven, 1998: 185-96.
    • (1998) Epilepsy: A Comprehensive Textbook , pp. 185-196
    • Pedley, T.A.1
  • 12
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • Lander ES, Schork NJ, Genetic dissection of complex traits. Science 1994;265:2037-48.
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 13
    • 0027362601 scopus 로고
    • Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epilepsy locus in the HLA region
    • Whitehouse WP, Rees M, Curtis D, et al. Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. Am J Hum Genet 1993;53:652-62.
    • (1993) Am J Hum Genet , vol.53 , pp. 652-662
    • Whitehouse, W.P.1    Rees, M.2    Curtis, D.3
  • 14
    • 0027359350 scopus 로고
    • Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
    • Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53:670-5.
    • (1993) Am J Hum Genet , vol.53 , pp. 670-675
    • Lewis, T.B.1    Leach, R.J.2    Ward, K.3    O'Connell, P.4    Ryan, S.G.5
  • 15
    • 0030670298 scopus 로고    scopus 로고
    • Epilepsy genes and the genetics of epilepsy syndromes: The promise of new therapies based on genetic knowledge
    • 13a. Berkovic SF. Epilepsy genes and the genetics of epilepsy syndromes: the promise of new therapies based on genetic knowledge. Epilepsia 1997;38(suppl 9):S32-6.
    • (1997) Epilepsia , vol.38 , Issue.9 SUPPL.
    • Berkovic, S.F.1
  • 16
    • 0015898166 scopus 로고
    • On the genetics of EEG-anomalies in childhood. IV. Photoconvulsive reaction
    • Doose H, Gerken H. On the genetics of EEG-anomalies in childhood. IV. Photoconvulsive reaction. Neuropediatrie 1973;4: 162-71.
    • (1973) Neuropediatrie , vol.4 , pp. 162-171
    • Doose, H.1    Gerken, H.2
  • 17
    • 0029248132 scopus 로고
    • Reflex epilepsy in the Papio papio baboon, particularly photosensitive epilepsy
    • Naquet R, Silva-Barrat C, Menini C. Reflex epilepsy in the Papio papio baboon, particularly photosensitive epilepsy. Ital J Neurol Sci 1995;16:119-25.
    • (1995) Ital J Neurol Sci , vol.16 , pp. 119-125
    • Naquet, R.1    Silva-Barrat, C.2    Menini, C.3
  • 18
    • 0031945667 scopus 로고    scopus 로고
    • Febrile seizures: Genetics and relationship to other epilepsy syndromes
    • Berkovic SF, Scheffer IE. Febrile seizures: genetics and relationship to other epilepsy syndromes. Curr Opin Neurol 1998;11: 129-34.
    • (1998) Curr Opin Neurol , vol.11 , pp. 129-134
    • Berkovic, S.F.1    Scheffer, I.E.2
  • 19
    • 0028800308 scopus 로고
    • Trinucleotide repeat disorders in pediatrics
    • O'Donnell DM, Zoghbi HY. Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr 1995;7:715-25.
    • (1995) Curr Opin Pediatr , vol.7 , pp. 715-725
    • O'Donnell, D.M.1    Zoghbi, H.Y.2
  • 20
    • 0028407381 scopus 로고
    • Trinucleotide repeat expansions and human genetic disease
    • Bates G, Lehrach H. Trinucleotide repeat expansions and human genetic disease. Bioessays 1994;16:277-84.
    • (1994) Bioessays , vol.16 , pp. 277-284
    • Bates, G.1    Lehrach, H.2
  • 22
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 23
    • 0030964106 scopus 로고    scopus 로고
    • Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
    • Lalioti MD, Scott HS, Buresi C, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997;386:847-51.
    • (1997) Nature , vol.386 , pp. 847-851
    • Lalioti, M.D.1    Scott, H.S.2    Buresi, C.3
  • 24
    • 0019509687 scopus 로고
    • Proposal for revised clinical and electroencephalographic classification of epileptic seizures
    • Commission on the Classification and Terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981;22:489-501.
    • (1981) Epilepsia , vol.22 , pp. 489-501
  • 25
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on the Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30: 389-99.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 26
    • 0030871697 scopus 로고    scopus 로고
    • Population-based family study designs: An interdisciplinary research framework for genetic epidemiology
    • Zhao LP, Hsu L, Davidov O, Potter J, Elston RC, Prentice RL. Population-based family study designs: an interdisciplinary research framework for genetic epidemiology. Genet Epidemiol 1997;14:365-88.
    • (1997) Genet Epidemiol , vol.14 , pp. 365-388
    • Zhao, L.P.1    Hsu, L.2    Davidov, O.3    Potter, J.4    Elston, R.C.5    Prentice, R.L.6
  • 27
    • 0031871762 scopus 로고    scopus 로고
    • Replication analysis of a putative susceptibility locus (EGI) for idiopathic generalized epilepsy on chromosome 8q24
    • Sander T, Kretz R, Schulz H, et al. Replication analysis of a putative susceptibility locus (EGI) for idiopathic generalized epilepsy on chromosome 8q24. Epilepsia 1998;39:715-20.
    • (1998) Epilepsia , vol.39 , pp. 715-720
    • Sander, T.1    Kretz, R.2    Schulz, H.3
  • 28
    • 0031594666 scopus 로고    scopus 로고
    • 1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy
    • 1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy. Epilepsy Res 1998;29:115-22.
    • (1998) Epilepsy Res , vol.29 , pp. 115-122
    • Sander, T.1    Peters, C.2    Janz, D.3
  • 29
    • 0026270312 scopus 로고
    • Of needles and haystacks: Finding human disease genes by positional cloning
    • Collins FS. Of needles and haystacks: finding human disease genes by positional cloning. Clin Res 1991;39:615-23.
    • (1991) Clin Res , vol.39 , pp. 615-623
    • Collins, F.S.1
  • 30
    • 0029046218 scopus 로고
    • Single locus mutations in mice expressing generalized spike-wave absence epilepsies
    • Noebels JL. Single locus mutations in mice expressing generalized spike-wave absence epilepsies. Ital J Neurol Sci 1995;16: 107-11.
    • (1995) Ital J Neurol Sci , vol.16 , pp. 107-111
    • Noebels, J.L.1
  • 31
    • 0028907339 scopus 로고
    • Positional cloning moves from perditional to traditional
    • Collins FS. Positional cloning moves from perditional to traditional. Nat Genet 1995;9:347-50.
    • (1995) Nat Genet , vol.9 , pp. 347-350
    • Collins, F.S.1
  • 32
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
    • Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
    • (1998) Nat Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3
  • 33
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-5.
    • (1998) Nat Genet , vol.18 , pp. 53-55
    • Charlier, C.1    Singh, N.A.2    Ryan, S.G.3
  • 34
    • 0028107449 scopus 로고
    • Identification of genetic defect of an epilepsy: Strategies for therapeutic advances
    • McNamara JO. Identification of genetic defect of an epilepsy: strategies for therapeutic advances. Epilepsia 1994;35(suppl 1): S51-7.
    • (1994) Epilepsia , vol.35 , Issue.1 SUPPL.
    • McNamara, J.O.1
  • 35
    • 0031748082 scopus 로고    scopus 로고
    • Epilepsies in twins: Genetics of the major epilepsy syndromes
    • Berkovic SF, Howell RA, Hay DA, Hopper JL. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998;43:435-45.
    • (1998) Ann Neurol , vol.43 , pp. 435-445
    • Berkovic, S.F.1    Howell, R.A.2    Hay, D.A.3    Hopper, J.L.4
  • 36
    • 0025671875 scopus 로고
    • Gene mapping in the idiopathic generalized epilepsies: Juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy
    • Delgado-Escueta AV, Greenberg D, Weissbecker K, et al. Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy. Epilepsia 1990;31(suppl 3):S19-29.
    • (1990) Epilepsia , vol.31 , Issue.3 SUPPL.
    • Delgado-Escueta, A.V.1    Greenberg, D.2    Weissbecker, K.3
  • 37
    • 0026660656 scopus 로고
    • There is more than one way to collect data for linkage analysis: What a study of epilepsy can tell us about linkage strategy for psychiatric disease
    • Greenberg DA. There is more than one way to collect data for linkage analysis: what a study of epilepsy can tell us about linkage strategy for psychiatric disease. Arch Gen Psychiatry 1992; 49:745-50.
    • (1992) Arch Gen Psychiatry , vol.49 , pp. 745-750
    • Greenberg, D.A.1
  • 38
    • 0023712810 scopus 로고
    • Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6
    • Greenberg DA, Delgado-Escueta AV, Widelitz H, et al. Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 1988;31:185-92.
    • (1988) Am J Med Genet , vol.31 , pp. 185-192
    • Greenberg, D.A.1    Delgado-Escueta, A.V.2    Widelitz, H.3
  • 39
    • 0026096204 scopus 로고
    • Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
    • Dumer M, Sander T, Greenberg DA, Johnson K, Beck-Mannagetta G, Janz D. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991;41:1651-5.
    • (1991) Neurology , vol.41 , pp. 1651-1655
    • Dumer, M.1    Sander, T.2    Greenberg, D.A.3    Johnson, K.4    Beck-Mannagetta, G.5    Janz, D.6
  • 40
    • 0024462368 scopus 로고
    • Mapping the gene for juvenile myoclonic epilepsy
    • Delgado-Escueta AV, Greenberg DA, Treiman L, et al. Mapping the gene for juvenile myoclonic epilepsy. Epilepsia 1989; 30(suppl 4):S8-18.
    • (1989) Epilepsia , vol.30 , Issue.4 SUPPL.
    • Delgado-Escueta, A.V.1    Greenberg, D.A.2    Treiman, L.3
  • 42
    • 19244363758 scopus 로고    scopus 로고
    • Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region
    • Elmslie FV, Williamson MP, Rees M, et al. Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. Am J Hum Genet 1996;59:653-63.
    • (1996) Am J Hum Genet , vol.59 , pp. 653-663
    • Elmslie, F.V.1    Williamson, M.P.2    Rees, M.3
  • 43
    • 8544254723 scopus 로고    scopus 로고
    • Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
    • Elmslie FV, Rees M, Williamson MP, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997;6:1329-34.
    • (1997) Hum Mol Genet , vol.6 , pp. 1329-1334
    • Elmslie, F.V.1    Rees, M.2    Williamson, M.P.3
  • 44
    • 0029037677 scopus 로고
    • Mapping of genes predisposing to idiopathic generalized epilepsy
    • Zara F, Blanchi A, Avanzini G, et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum MolI Genet 1995; 4:1201-7.
    • (1995) Hum MolI Genet , vol.4 , pp. 1201-1207
    • Zara, F.1    Blanchi, A.2    Avanzini, G.3
  • 45
    • 0032231907 scopus 로고    scopus 로고
    • Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: Linkage to chromosome 8q24
    • Fong GCY, Shah PU, Gee MN, et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet 1998;63:1117-29.
    • (1998) Am J Hum Genet , vol.63 , pp. 1117-1129
    • Fong, G.C.Y.1    Shah, P.U.2    Gee, M.N.3
  • 47
    • 0029126795 scopus 로고
    • The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1."
    • Sander T, Hildmann T, Janz D, et al. The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1." Ann Neurol 1995;38:210-7.
    • (1995) Ann Neurol , vol.38 , pp. 210-217
    • Sander, T.1    Hildmann, T.2    Janz, D.3
  • 48
    • 0030757806 scopus 로고    scopus 로고
    • Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism
    • Sander T, Hildmann T, Kretz R, et al. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. Am J Med Genet 1997;74:416-21.
    • (1997) Am J Med Genet , vol.74 , pp. 416-421
    • Sander, T.1    Hildmann, T.2    Kretz, R.3
  • 49
    • 0027174805 scopus 로고
    • Animal models of inherited epilepsy
    • Buchhalter JR. Animal models of inherited epilepsy. Epilepsia 1993;34(suppl 3):S31-41.
    • (1993) Epilepsia , vol.34 , Issue.3 SUPPL.
    • Buchhalter, J.R.1
  • 51
    • 0030202885 scopus 로고    scopus 로고
    • The role of GABA(B) mechanisms in animal models of absence seizures
    • Caddick SJ, Hosford DA. The role of GABA(B) mechanisms in animal models of absence seizures. Mol Neurobiol 1996;13:23-32.
    • (1996) Mol Neurobiol , vol.13 , pp. 23-32
    • Caddick, S.J.1    Hosford, D.A.2
  • 52
    • 0030748644 scopus 로고    scopus 로고
    • Pharmacological profiles of generalized absence seizures in lethargic, stargazer and gamma-hydroxybulyrate-treated model mice
    • Aizawa M, Ito Y, Fukuda H. Pharmacological profiles of generalized absence seizures in lethargic, stargazer and gamma-hydroxybulyrate-treated model mice. Neurosci Res 1997;29:17-25.
    • (1997) Neurosci Res , vol.29 , pp. 17-25
    • Aizawa, M.1    Ito, Y.2    Fukuda, H.3
  • 53
    • 0026568246 scopus 로고
    • A burst-dependent hippocampal excitability defect elicited by potassium at the developmental onset of spike-wave seizures in the Tottering mutant
    • Helekar SA, Noebels JL. A burst-dependent hippocampal excitability defect elicited by potassium at the developmental onset of spike-wave seizures in the Tottering mutant. Dev Brain Res 1992;65:205-10.
    • (1992) Dev Brain Res , vol.65 , pp. 205-210
    • Helekar, S.A.1    Noebels, J.L.2
  • 54
    • 0030584085 scopus 로고    scopus 로고
    • Absence epilepsy in tottering mutant mice is associated with calcium channel defects
    • Fletcher CF, Lutz CM, O'Sullivan TN, et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996;87:607-17.
    • (1996) Cell , vol.87 , pp. 607-617
    • Fletcher, C.F.1    Lutz, C.M.2    O'Sullivan, T.N.3
  • 56
    • 0030614535 scopus 로고    scopus 로고
    • 2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (1h) mouse
    • 2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (1h) mouse. Cell 1997;88:385-92.
    • (1997) Cell , vol.88 , pp. 385-392
    • Burgess, D.L.1    Jones, J.M.2    Meisler, M.H.3    Noebels, J.L.4
  • 57
    • 0027339661 scopus 로고
    • Increased number of GABA(B) receptors in the lethargic (1h/1h) mouse model of absence epilepsy
    • Lin FH, Cao Z, Hosford DA. Increased number of GABA(B) receptors in the lethargic (1h/1h) mouse model of absence epilepsy. Brain Res 1993;608:101-6.
    • (1993) Brain Res , vol.608 , pp. 101-106
    • Lin, F.H.1    Cao, Z.2    Hosford, D.A.3
  • 58
    • 0031030035 scopus 로고    scopus 로고
    • Increased excitability and inward rectification in layer V cortical pyramidal neurons in the epileptic mutant mouse Stargazer
    • Di Pasquale E, Keegan KD, Noebels JL. Increased excitability and inward rectification in layer V cortical pyramidal neurons in the epileptic mutant mouse Stargazer. J Neurophysiol 1997;77: 621-31.
    • (1997) J Neurophysiol , vol.77 , pp. 621-631
    • Di Pasquale, E.1    Keegan, K.D.2    Noebels, J.L.3
  • 60
    • 0030886101 scopus 로고    scopus 로고
    • Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice
    • Cox GA, Lutz CM, Yang CL, et al. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 1997;91: 139-48.
    • (1997) Cell , vol.91 , pp. 139-148
    • Cox, G.A.1    Lutz, C.M.2    Yang, C.L.3
  • 61
    • 0023688135 scopus 로고
    • Autosomal dominant benign neonatal seizures
    • Cunniff C, Wiedlin N, Jones KL. Autosomal dominant benign neonatal seizures. Am J Med Genet 1988;30:963-6.
    • (1988) Am J Med Genet , vol.30 , pp. 963-966
    • Cunniff, C.1    Wiedlin, N.2    Jones, K.L.3
  • 62
    • 0027292974 scopus 로고
    • Seizure characteristics in chromosome 20 benign familial neonatal convulsions
    • Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993;43:1355-60.
    • (1993) Neurology , vol.43 , pp. 1355-1360
    • Ronen, G.M.1    Rosales, T.O.2    Connolly, M.3    Anderson, V.E.4    Leppert, M.5
  • 63
    • 0027275346 scopus 로고
    • Ictal EEG findings in an infant with benign familial neonatal convulsions
    • Andrews PI, Stafstrom CE. Ictal EEG findings in an infant with benign familial neonatal convulsions. J Epilepsy 1993;6:174-9.
    • (1993) J Epilepsy , vol.6 , pp. 174-179
    • Andrews, P.I.1    Stafstrom, C.E.2
  • 64
    • 0027497305 scopus 로고
    • Electroclinical signs of benign neonatal familial convulsions
    • Hirsch E, Velez A, Sellal F, et al. Electroclinical signs of benign neonatal familial convulsions. Ann Neurol 1993;34:835-41.
    • (1993) Ann Neurol , vol.34 , pp. 835-841
    • Hirsch, E.1    Velez, A.2    Sellal, F.3
  • 65
    • 0002426465 scopus 로고    scopus 로고
    • Benign familial neonatal convulsions and benign idiopathic convulsions
    • Engel J, Pedley TA, eds. Philadelphia: Lippincott-Raven
    • Plouin P. Benign familial neonatal convulsions and benign idiopathic convulsions. In: Engel J, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott-Raven, 1998:2247-55.
    • (1998) Epilepsy: A Comprehensive Textbook , pp. 2247-2255
    • Plouin, P.1
  • 66
    • 0024502803 scopus 로고
    • Benign familial neonatal convulsions linked to genetic markers on chromosome 20
    • Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-8.
    • (1989) Nature , vol.337 , pp. 647-648
    • Leppert, M.1    Anderson, V.E.2    Quattlebaum, T.3
  • 68
    • 0032536030 scopus 로고    scopus 로고
    • A potassium channel mutation in neonatal human epilepsy
    • Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-6.
    • (1998) Science , vol.279 , pp. 403-406
    • Biervert, C.1    Schroeder, B.C.2    Kubisch, C.3
  • 70
    • 0019828019 scopus 로고
    • Fifth day fits: A syndrome of neonatal convulsions
    • Pryor DS, Don N, Macourt DC. Fifth day fits: a syndrome of neonatal convulsions. Arch Dis Child 1981;56:753-8.
    • (1981) Arch Dis Child , vol.56 , pp. 753-758
    • Pryor, D.S.1    Don, N.2    Macourt, D.C.3
  • 73
    • 0028345785 scopus 로고
    • Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration
    • Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 1994;31:177-82.
    • (1994) J Med Genet , vol.31 , pp. 177-182
    • Hirvasniemi, A.1    Lang, H.2    Lehesjoki, A.E.3    Leisti, J.4
  • 74
    • 0031051650 scopus 로고    scopus 로고
    • Neurophysiological findings in the Northern epilepsy syndrome
    • Lang AH, Hirvasniemi A, Siivola J. Neurophysiological findings in the Northern epilepsy syndrome. Acta Neurol Scand 1997;95: 1-8.
    • (1997) Acta Neurol Scand , vol.95 , pp. 1-8
    • Lang, A.H.1    Hirvasniemi, A.2    Siivola, J.3
  • 75
    • 0028237047 scopus 로고
    • The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8
    • Tahvanainen E, Ranta S, Hirvasniemi A, et al. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 1994;91:7267-70.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 7267-7270
    • Tahvanainen, E.1    Ranta, S.2    Hirvasniemi, A.3
  • 76
    • 0030762908 scopus 로고    scopus 로고
    • High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p
    • Ranta S, Lehesjoki AE, de Fatima Bonaldo M, et al. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res 1997;7:887-96.
    • (1997) Genome Res , vol.7 , pp. 887-896
    • Ranta, S.1    Lehesjoki, A.E.2    De Fatima Bonaldo, M.3
  • 78
    • 0022257827 scopus 로고
    • Proposal for classification of epilepsies and epileptic syndromes
    • Commission on the Classification and Terminology of the International League Against Epilepsy. Proposal for classification of epilepsies and epileptic syndromes. Epilepsia 1985;26:268-78.
    • (1985) Epilepsia , vol.26 , pp. 268-278
  • 79
    • 0017813302 scopus 로고
    • Prognosis in children with febrile seizures
    • Nelson KB, Ellenberg JH. Prognosis in children with febrile seizures. Pediatrics 1978;61:720-7.
    • (1978) Pediatrics , vol.61 , pp. 720-727
    • Nelson, K.B.1    Ellenberg, J.H.2
  • 80
    • 0031745703 scopus 로고    scopus 로고
    • Magnetic resonance imaging evidence of hippocampal injury after prolonged focal febrile convulsions
    • VanLandingham KE, Heinz ER, Cavazos JE, Lewis DV. Magnetic resonance imaging evidence of hippocampal injury after prolonged focal febrile convulsions. Ann Neurol 1998;43:413-26.
    • (1998) Ann Neurol , vol.43 , pp. 413-426
    • Vanlandingham, K.E.1    Heinz, E.R.2    Cavazos, J.E.3    Lewis, D.V.4
  • 81
    • 0026302331 scopus 로고
    • Genetic studies of febrile convulsions: Analysis of twin and family data
    • Tsuboi T, Endo S. Genetic studies of febrile convulsions: analysis of twin and family data. Epilepsy Res 1991;4(suppl):119-28.
    • (1991) Epilepsy Res , vol.4 , Issue.SUPPL. , pp. 119-128
    • Tsuboi, T.1    Endo, S.2
  • 85
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogenous clinical phenotypes
    • Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogenous clinical phenotypes. Brain 1997;120:479-90.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 86
    • 0032953159 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
    • 82a. Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999;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
  • 87
    • 0031039046 scopus 로고    scopus 로고
    • Febrile convulsions in selected large families: A single-major-locus mode of inheritance?
    • Maher J, McLachlan RS. Febrile convulsions in selected large families: a single-major-locus mode of inheritance? Dev Med Child Neurol 1997;39:79-84.
    • (1997) Dev Med Child Neurol , vol.39 , pp. 79-84
    • Maher, J.1    McLachlan, R.S.2
  • 88
    • 6844240853 scopus 로고    scopus 로고
    • Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
    • Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998;7:63-7.
    • (1998) Hum Mol Genet , vol.7 , pp. 63-67
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3
  • 90
    • 0032511770 scopus 로고    scopus 로고
    • Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus
    • Kugler SL, Stenroos ES, Mandelbaum DE, et al. Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus. Am J Med Genet 1998;79:354-61.
    • (1998) Am J Med Genet , vol.79 , pp. 354-361
    • Kugler, S.L.1    Stenroos, E.S.2    Mandelbaum, D.E.3
  • 91
    • 0031579415 scopus 로고    scopus 로고
    • Febrile seizures, an appropriate-aged model suitable for long-term studies
    • Baram TZ, Gerth Z, Schultz L. Febrile seizures, an appropriate-aged model suitable for long-term studies. Dev Brain Res 1997;98:265-70.
    • (1997) Dev Brain Res , vol.98 , pp. 265-270
    • Baram, T.Z.1    Gerth, Z.2    Schultz, L.3
  • 92
    • 0028528215 scopus 로고
    • Inherited epilepsies of childhood
    • Buchhalter JR. Inherited epilepsies of childhood. J Child Neurol 1994;9(suppl 1):S12-9.
    • (1994) J Child Neurol , vol.9 , Issue.1 SUPPL.
    • Buchhalter, J.R.1
  • 93
    • 0025801786 scopus 로고
    • Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat
    • Baram TZ, Schultz L. Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat. Dev Brain Res 1991; 61:97-101.
    • (1991) Dev Brain Res , vol.61 , pp. 97-101
    • Baram, T.Z.1    Schultz, L.2
  • 94
    • 0030614696 scopus 로고    scopus 로고
    • Loss of Calbindin-D28K immunoreactivity from dentate granule cells in human temporal lobe epilepsy
    • Magloczky Z, Halasz P, Vajda J, Czirjak S, Freund TF. Loss of Calbindin-D28K immunoreactivity from dentate granule cells in human temporal lobe epilepsy. Neuroscience 1997;76:377-85.
    • (1997) Neuroscience , vol.76 , pp. 377-385
    • Magloczky, Z.1    Halasz, P.2    Vajda, J.3    Czirjak, S.4    Freund, T.F.5
  • 95
    • 0022003085 scopus 로고
    • Properties of persistent sodium conductance and calcium conductance of layer V neurons from cat sensorimotor cortex in vitro
    • Stafstrom CE, Schwindt PC, Chubb MC, Crill WE. Properties of persistent sodium conductance and calcium conductance of layer V neurons from cat sensorimotor cortex in vitro. J Neurophysiol 1985;53:153-70.
    • (1985) J Neurophysiol , vol.53 , pp. 153-170
    • Stafstrom, C.E.1    Schwindt, P.C.2    Chubb, M.C.3    Crill, W.E.4
  • 96
    • 0029303355 scopus 로고
    • Partial epilepsy: Chinks in the armour
    • Ryan SG. Partial epilepsy: chinks in the armour. Nat Genet 1995; 10:4-6.
    • (1995) Nat Genet , vol.10 , pp. 4-6
    • Ryan, S.G.1
  • 97
    • 0025683271 scopus 로고
    • Some genetic aspects of rolandic epilepsy: Waking and sleep EEGs in siblings
    • Degen R, Degen HE. Some genetic aspects of rolandic epilepsy: waking and sleep EEGs in siblings. Epilepsia 1990;31:795-801.
    • (1990) Epilepsia , vol.31 , pp. 795-801
    • Degen, R.1    Degen, H.E.2
  • 98
    • 0016808239 scopus 로고
    • Benign epilepsy of childhood with centrotemporal EEG foci: A genetic study
    • Heijbel J, Blom S, Rasmuson M. Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. Epilepsia 1975;16:285-93.
    • (1975) Epilepsia , vol.16 , pp. 285-293
    • Heijbel, J.1    Blom, S.2    Rasmuson, M.3
  • 99
    • 0027234592 scopus 로고
    • Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves
    • Whitehouse W, Diebold U, Rees M, Parker K, Doose H, Gardiner RM. Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves. Neuropediatrics 1993;24:208-10.
    • (1993) Neuropediatrics , vol.24 , pp. 208-210
    • Whitehouse, W.1    Diebold, U.2    Rees, M.3    Parker, K.4    Doose, H.5    Gardiner, R.M.6
  • 100
    • 0027226390 scopus 로고
    • Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X regions
    • Rees M, Diebold U, Parker K, Doose H, Gardiner RM, Whitehouse WP. Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X regions. Neuropediatrics 1993;24:211-3.
    • (1993) Neuropediatrics , vol.24 , pp. 211-213
    • Rees, M.1    Diebold, U.2    Parker, K.3    Doose, H.4    Gardiner, R.M.5    Whitehouse, W.P.6
  • 101
    • 0031649494 scopus 로고    scopus 로고
    • Centrotemporal spikes in families with rolandic epilepsy: Linkage to chromosome 15q14
    • 96a. Neubauer BA, Fiedler B, Himmelein B, et al. Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 1998;51:1608-12.
    • (1998) Neurology , vol.51 , pp. 1608-1612
    • Neubauer, B.A.1    Fiedler, B.2    Himmelein, B.3
  • 102
    • 0033055535 scopus 로고    scopus 로고
    • Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    • 96b. Guerrini R, Bonanni P, Nardocci N, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999;45:344-52.
    • (1999) Ann Neurol , vol.45 , pp. 344-352
    • Guerrini, R.1    Bonanni, P.2    Nardocci, N.3
  • 103
    • 0028980028 scopus 로고
    • 4 subunit is associated with autosomal dominant noctural frontal lobe epilepsy
    • 4 subunit is associated with autosomal dominant noctural frontal lobe epilepsy. Nat Genet 1995;11:201-3.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 104
    • 0030916583 scopus 로고    scopus 로고
    • An insertion mutation of the CHRNA4 gene in a family with autosomal dominant noctural frontal lobe epilepsy
    • Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant noctural frontal lobe epilepsy. Hum Mol Genet 1997;6:943-7.
    • (1997) Hum Mol Genet , vol.6 , pp. 943-947
    • Steinlein, O.K.1    Magnusson, A.2    Stoodt, J.3
  • 105
    • 0032944140 scopus 로고    scopus 로고
    • Autosomal dominant noctural frontal lobe epilepsy: An electroclinical study of a Norwegian family with ten affected members
    • 98a. Nakken KO, Magnusson A, Steinlein OK. Autosomal dominant noctural frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. Epilepsia 1999;40: 88-92.
    • (1999) Epilepsia , vol.40 , pp. 88-92
    • Nakken, K.O.1    Magnusson, A.2    Steinlein, O.K.3
  • 106
    • 0032231423 scopus 로고    scopus 로고
    • Autosomal dominant noctural frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
    • Phillips HA, Scheffer IE, Crossland KM, et al. Autosomal dominant noctural frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998;63: 1101-9.
    • (1998) Am J Hum Genet , vol.63 , pp. 1101-1109
    • Phillips, H.A.1    Scheffer, I.E.2    Crossland, K.M.3
  • 107
    • 0001823842 scopus 로고
    • Acetylcholine and epilepsy
    • Fisher RS, Coyle JT, eds. New York: Wiley-Liss
    • Segal M. Acetylcholine and epilepsy. In: Fisher RS, Coyle JT, eds. Neurotransmitters and epilepsy. New York: Wiley-Liss, 1991:95-101.
    • (1991) Neurotransmitters and Epilepsy , pp. 95-101
    • Segal, M.1
  • 108
    • 0030602149 scopus 로고    scopus 로고
    • An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
    • Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett 1996;398:91-6.
    • (1996) FEBS Lett , vol.398 , pp. 91-96
    • Weiland, S.1    Witzemann, V.2    Villarroel, A.3    Propping, P.4    Steinlein, O.5
  • 110
    • 0031907205 scopus 로고    scopus 로고
    • The relationship between sleep and epilepsy in frontal and temporal lobe epilepsies: Practical and physiopathologic considerations
    • Crespel A, Baldy-Moulinier M, Coubes P. The relationship between sleep and epilepsy in frontal and temporal lobe epilepsies: practical and physiopathologic considerations. Epilepsia 1998;39: 150-7.
    • (1998) Epilepsia , vol.39 , pp. 150-157
    • Crespel, A.1    Baldy-Moulinier, M.2    Coubes, P.3
  • 111
    • 0031911013 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy: A clinically heterogeneous syndrome
    • Cendes F, Lopes-Cendes I, Andermann E, Andermann F. Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 1998;50:554-7.
    • (1998) Neurology , vol.50 , pp. 554-557
    • Cendes, F.1    Lopes-Cendes, I.2    Andermann, E.3    Andermann, F.4
  • 112
    • 0029059069 scopus 로고
    • Localization of a gene for partial epilepsy to chromosome 10q
    • Ottman R, Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995;10:56-60.
    • (1995) Nat Genet , vol.10 , pp. 56-60
    • Ottman, R.1    Risch, N.2    Hauser, W.A.3
  • 113
    • 0345003726 scopus 로고    scopus 로고
    • Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q
    • 105a. Poza JJ, Saenz A, Martinez-Gil A, et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 1999; 45:182-8.
    • (1999) Ann Neurol , vol.45 , pp. 182-188
    • Poza, J.J.1    Saenz, A.2    Martinez-Gil, A.3
  • 115
    • 0024309329 scopus 로고
    • El mouse as a model of focal epilepsy: A review
    • King JT Jr, LaMotte CC. El mouse as a model of focal epilepsy: a review. Epilepsia 1989;30:257-65.
    • (1989) Epilepsia , vol.30 , pp. 257-265
    • King J.T., Jr.1    LaMotte, C.C.2
  • 118
    • 0028011992 scopus 로고
    • Autosomal dominant frontal epilepsy misdiagnosed as sheep disorder
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sheep disorder. Lancet 1994;343:515-7.
    • (1994) Lancet , vol.343 , pp. 515-517
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 119
    • 0028231357 scopus 로고
    • Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene
    • Malafosse A, Beck C, Bellet H, et al. Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. Ann Neurol 1994;35:479-82.
    • (1994) Ann Neurol , vol.35 , pp. 479-482
    • Malafosse, A.1    Beck, C.2    Bellet, H.3
  • 120
    • 8044248429 scopus 로고    scopus 로고
    • Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q
    • Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-7.
    • (1997) Hum Mol Genet , vol.6 , pp. 473-477
    • Guipponi, M.1    Rivier, F.2    Vigevano, F.3
  • 121
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-98.
    • (1997) Am J Hum Genet , vol.61 , pp. 889-898
    • Szepetowski, P.1    Rochette, J.2    Berquin, P.3    Piussan, C.4    Lathrop, G.M.5    Monaco, A.P.6
  • 122
    • 0018428007 scopus 로고
    • Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
    • Norio R, Koskiniemi M, Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979;15:382-98.
    • (1979) Clin Genet , vol.15 , pp. 382-398
    • Norio, R.1    Koskiniemi, M.2
  • 123
    • 13344269666 scopus 로고    scopus 로고
    • Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
    • Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-4.
    • (1996) Science , vol.271 , pp. 1731-1734
    • Pennacchio, L.A.1    Lehesjoki, A.E.2    Stone, N.E.3
  • 124
  • 125
    • 17344372332 scopus 로고    scopus 로고
    • A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset
    • Lalioti MD, Scott HS, Genton P, et al. A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet 1998;62:842-7.
    • (1998) Am J Hum Genet , vol.62 , pp. 842-847
    • Lalioti, M.D.1    Scott, H.S.2    Genton, P.3
  • 126
    • 0344263212 scopus 로고    scopus 로고
    • Towards an animal model for progressive myoclonic epilepsy (EPM1)
    • Pennachio L, Higgins K, Scott M, Myers R. Towards an animal model for progressive myoclonic epilepsy (EPM1). Epilepsia 1997;38(suppl 8):122.
    • (1997) Epilepsia , vol.38 , Issue.8 SUPPL. , pp. 122
    • Pennachio, L.1    Higgins, K.2    Scott, M.3    Myers, R.4
  • 128
    • 0026666387 scopus 로고
    • Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases
    • Lehesjoki AE, Koskiniemi M, Pandolfo M, et al. Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 1992;42:1545-50.
    • (1992) Neurology , vol.42 , pp. 1545-1550
    • Lehesjoki, A.E.1    Koskiniemi, M.2    Pandolfo, M.3
  • 129
    • 0027314930 scopus 로고
    • Progressive myoclonus epilepsies: Clinical and genetic aspects
    • Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993;34(suppl 3):S19-30.
    • (1993) Epilepsia , vol.34 , Issue.3 SUPPL.
    • Berkovic, S.F.1    Cochius, J.2    Andermann, E.3    Andermann, F.4
  • 130
    • 0029082843 scopus 로고
    • The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q
    • Serratosa JM, Delgado-Escueta AV, Posada I, et al. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum Mol Genet 1995;4:1657-63.
    • (1995) Hum Mol Genet , vol.4 , pp. 1657-1663
    • Serratosa, J.M.1    Delgado-Escueta, A.V.2    Posada, I.3
  • 131
    • 17344362307 scopus 로고    scopus 로고
    • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonic epilepsy
    • Minassian B, Lee J, Herbrick J, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonic epilepsy. Nat Genet 1998;20:171-4.
    • (1998) Nat Genet , vol.20 , pp. 171-174
    • Minassian, B.1    Lee, J.2    Herbrick, J.3
  • 132
    • 0031035989 scopus 로고    scopus 로고
    • Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis
    • Pshezhetsky AV, Richard C, Michaud L, et al. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet 1997; 15:316-20.
    • (1997) Nat Genet , vol.15 , pp. 316-320
    • Pshezhetsky, A.V.1    Richard, C.2    Michaud, L.3
  • 133
    • 0029856826 scopus 로고    scopus 로고
    • The neuronal ceroid-lipofuscinoses
    • Goebel HH. The neuronal ceroid-lipofuscinoses. Semin Pediatr Neurol 1996;3:270-8.
    • (1996) Semin Pediatr Neurol , vol.3 , pp. 270-278
    • Goebel, H.H.1
  • 134
    • 0026511672 scopus 로고
    • Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types
    • Boustany RM. Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types. Am J Med Genet 1992;42:533-5.
    • (1992) Am J Med Genet , vol.42 , pp. 533-535
    • Boustany, R.M.1
  • 135
    • 0000118993 scopus 로고    scopus 로고
    • Batten disease
    • Vinken, Bruyn, eds. Amsterdam: Elsevier
    • Boustany R. Batten disease. In: Vinken, Bruyn, eds. Handbook of clinical neurology, Vol. 66. Amsterdam: Elsevier, 1996:671-700.
    • (1996) Handbook of Clinical Neurology , vol.66 , pp. 671-700
    • Boustany, R.1
  • 136
    • 0029153109 scopus 로고
    • Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
    • Vesa J, Hellsten E. Verkruyse LA, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-7.
    • (1995) Nature , vol.376 , pp. 584-587
    • Vesa, J.1    Hellsten, E.2    Verkruyse, L.A.3
  • 137
    • 0030937327 scopus 로고    scopus 로고
    • Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
    • Sharp JD, Wheeler RB, Lake BD, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997;6:59-5.
    • (1997) Hum Mol Genet , vol.6 , pp. 59-65
    • Sharp, J.D.1    Wheeler, R.B.2    Lake, B.D.3
  • 138
    • 0030866233 scopus 로고    scopus 로고
    • Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
    • Sleat DE, Donnelly RJ, Lackland H, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997;277:1802-5.
    • (1997) Science , vol.277 , pp. 1802-1805
    • Sleat, D.E.1    Donnelly, R.J.2    Lackland, H.3
  • 139
    • 0029147298 scopus 로고
    • Isolation of a novel gene underlying Batten disease. CLN3
    • Lerner TJ, Boustany R-MN, Anderson JW, et al. (The International Batten Disease Consortium). Isolation of a novel gene underlying Batten disease. CLN3. Cell 1995;82:949-57.
    • (1995) Cell , vol.82 , pp. 949-957
    • Lerner, T.J.1    Boustany, R.-M.N.2    Anderson, J.W.3
  • 140
    • 0031985964 scopus 로고    scopus 로고
    • Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
    • Jarvela I, Sainio M, Rantamaki T, et al. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet 1998;7:85-90.
    • (1998) Hum Mol Genet , vol.7 , pp. 85-90
    • Jarvela, I.1    Sainio, M.2    Rantamaki, T.3
  • 141
    • 16944364280 scopus 로고    scopus 로고
    • Spectrum of mutations in the Batten disease gene, CLN3
    • Munroe PB, Mitchison HM, O'Rawe AM, et al. Spectrum of mutations in the Batten disease gene, CLN3, Am J Hum Genet 1997;61:310-6.
    • (1997) Am J Hum Genet , vol.61 , pp. 310-316
    • Munroe, P.B.1    Mitchison, H.M.2    O'Rawe, A.M.3
  • 142
    • 0031803649 scopus 로고    scopus 로고
    • CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
    • Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 1998;19:286-8.
    • (1998) Nat Genet , vol.19 , pp. 286-288
    • Savukoski, M.1    Klockars, T.2    Holmberg, V.3    Santavuori, P.4    Lander, E.S.5    Peltonen, L.6
  • 143
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNa tRNA(Lys) mutation
    • Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990;61:931-7.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 144
    • 0027954609 scopus 로고
    • Mitochondrial DNA mutations in epilepsy and neurological disease
    • Wallace DC, Lott MT, Shoffner JM, Ballinger S. Mitochondrial DNA mutations in epilepsy and neurological disease. Epilepsia 1994;35(suppl 1):S43-50.
    • (1994) Epilepsia , vol.35 , Issue.1 SUPPL.
    • Wallace, D.C.1    Lott, M.T.2    Shoffner, J.M.3    Ballinger, S.4
  • 145
    • 0026688649 scopus 로고
    • A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Silvestri G, Moracs CT, Shanske S, Oh SJ, DiMauro S. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1213-7.
    • (1992) Am J Hum Genet , vol.51 , pp. 1213-1217
    • Silvestri, G.1    Moracs, C.T.2    Shanske, S.3    Oh, S.J.4    DiMauro, S.5
  • 146
    • 0029664992 scopus 로고    scopus 로고
    • Huntington and DRPLA proteins selectively interact with the enzyme GAPDH
    • Burke JR, Enghild JJ, Martin ME, et al. Huntington and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 1996;2:347-50.
    • (1996) Nat Med , vol.2 , pp. 347-350
    • Burke, J.R.1    Enghild, J.J.2    Martin, M.E.3
  • 147
    • 0030741184 scopus 로고    scopus 로고
    • Huntington's disease and dentatorubralpallidoluysian atrophy: Proteins, pathogenesis and pathology
    • Ross CA, Becher MW, Colomer V, Engelender S, Wood JD, Sharp AH. Huntington's disease and dentatorubralpallidoluysian atrophy: proteins, pathogenesis and pathology. Brain Pathol 1997;7:1003-16.
    • (1997) Brain Pathol , vol.7 , pp. 1003-1016
    • Ross, C.A.1    Becher, M.W.2    Colomer, V.3    Engelender, S.4    Wood, J.D.5    Sharp, A.H.6
  • 148
    • 9044242477 scopus 로고
    • Classifying epileptic syndromes: Problems and a neurobiologic solution
    • Farrell K. Classifying epileptic syndromes: problems and a neurobiologic solution. Neurology 1993;43(suppl 5):S8-11.
    • (1993) Neurology , vol.43 , Issue.5 SUPPL.
    • Farrell, K.1
  • 149
    • 0027174807 scopus 로고
    • Epilepsy in the setting of neurocutaneous syndromes
    • Kotagal P, Rothner AD. Epilepsy in the setting of neurocutaneous syndromes. Epilepsia 1993;34(suppl 3):S71-8.
    • (1993) Epilepsia , vol.34 , Issue.3 SUPPL.
    • Kotagal, P.1    Rothner, A.D.2
  • 150
    • 0003001086 scopus 로고
    • Tuberous sclerosis
    • Dulac O, Chugani HT, Dalla Bernardina B, eds. London: Saunders
    • Curatolo P. Tuberous sclerosis. In: Dulac O, Chugani HT, Dalla Bernardina B, eds. Infantile spasms and West syndrome. London: Saunders, 1994:192-202.
    • (1994) Infantile Spasms and West Syndrome , pp. 192-202
    • Curatolo, P.1
  • 151
    • 0028040522 scopus 로고
    • The molecular genetics of tuberous sclerosis
    • Sampson JR, Harris PC. The molecular genetics of tuberous sclerosis. Hum Mol Genet 1994;3:1477-80.
    • (1994) Hum Mol Genet , vol.3 , pp. 1477-1480
    • Sampson, J.R.1    Harris, P.C.2
  • 152
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    • van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-8.
    • (1997) Science , vol.277 , pp. 805-808
    • Van Slegtenhorst, M.1    De Hoogt, R.2    Hermans, C.3
  • 153
    • 0026922021 scopus 로고
    • Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
    • Kandt RS, Haines JL, Smith M, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992;2:37-41.
    • (1992) Nat Genet , vol.2 , pp. 37-41
    • Kandt, R.S.1    Haines, J.L.2    Smith, M.3
  • 154
    • 0029021621 scopus 로고
    • Identification of tuberin, the tuberous sclerosis-2 product: Tuberin possesses specific Rap1GAP activity
    • Wienecke R, Konig A, DeClue JE. Identification of tuberin, the tuberous sclerosis-2 product: tuberin possesses specific Rap1GAP activity. J Biol Chem 1995;270:16409-14.
    • (1995) J Biol Chem , vol.270 , pp. 16409-16414
    • Wienecke, R.1    Konig, A.2    DeClue, J.E.3
  • 156
    • 0027486966 scopus 로고
    • Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
    • Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993;270: 2838-42.
    • (1993) JAMA , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 157
    • 0031046839 scopus 로고    scopus 로고
    • A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
    • Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997;6:147-55.
    • (1997) Hum Mol Genet , vol.6 , pp. 147-155
    • Chong, S.S.1    Pack, S.D.2    Roschke, A.V.3
  • 158
    • 0028023599 scopus 로고
    • Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase
    • Hattori M, Adachi H, Tsuijimoto M, Arai H, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase. Nature 1994;370:216-8.
    • (1994) Nature , vol.370 , pp. 216-218
    • Hattori, M.1    Adachi, H.2    Tsuijimoto, M.3    Arai, H.4    Inoue, K.5
  • 159
    • 0031016394 scopus 로고    scopus 로고
    • Bioactive lipids in excitatory neurotransmission and neuronal plasticity
    • Bazan NG, Packard MG, Teather L, Allan G. Bioactive lipids in excitatory neurotransmission and neuronal plasticity. Neurochem Int 1997;30:225-31.
    • (1997) Neurochem Int , vol.30 , pp. 225-231
    • Bazan, N.G.1    Packard, M.G.2    Teather, L.3    Allan, G.4
  • 160
    • 0029013985 scopus 로고
    • Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration
    • Reiner O, Albrecht U, Gordon M, et al. Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. J Neurosci 1995;15:3730-8.
    • (1995) J Neurosci , vol.15 , pp. 3730-3738
    • Reiner, O.1    Albrecht, U.2    Gordon, M.3
  • 162
    • 0031848149 scopus 로고    scopus 로고
    • Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
    • Hirotsune S, Fleck MW, Gambello MJ, et al. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet 1998;19:333-9.
    • (1998) Nat Genet , vol.19 , pp. 333-339
    • Hirotsune, S.1    Fleck, M.W.2    Gambello, M.J.3
  • 163
    • 8244247118 scopus 로고    scopus 로고
    • Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): A gene causing neuronal migration defects in human brain
    • Ross ME, Allen KM, Srivastava AK, et al. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet 1997;6:555-62.
    • (1997) Hum Mol Genet , vol.6 , pp. 555-562
    • Ross, M.E.1    Allen, K.M.2    Srivastava, A.K.3
  • 164
    • 17444444915 scopus 로고    scopus 로고
    • A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    • des Portes V, Pinard JM, Billuart P, et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998;92:51-61.
    • (1998) Cell , vol.92 , pp. 51-61
    • Des Portes, V.1    Pinard, J.M.2    Billuart, P.3
  • 165
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • Gleeson JG, Allen KM, Fox JW, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63-72.
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3
  • 166
    • 0027215439 scopus 로고
    • Familial periventricular nodular heterotopia
    • Kamuro K, Tenokuchi Y. Familial periventricular nodular heterotopia. Brain Dev 1993;15:237-41.
    • (1993) Brain Dev , vol.15 , pp. 237-241
    • Kamuro, K.1    Tenokuchi, Y.2
  • 167
    • 0028856316 scopus 로고
    • Periventricular and subcortical nodular heterotopia: A study of 33 patients
    • Dubeau F, Tampieri D, Lee N, et al. Periventricular and subcortical nodular heterotopia: a study of 33 patients. Brain 1995;118: 1273-87.
    • (1995) Brain , vol.118 , pp. 1273-1287
    • Dubeau, F.1    Tampieri, D.2    Lee, N.3
  • 169
    • 0029994953 scopus 로고    scopus 로고
    • Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis
    • Jardine PE, Clarke MA, Super M. Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. Arch Dis Child 1996;74:244-6.
    • (1996) Arch Dis Child , vol.74 , pp. 244-246
    • Jardine, P.E.1    Clarke, M.A.2    Super, M.3
  • 171
    • 0030027091 scopus 로고    scopus 로고
    • Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
    • Eksioglu YZ, Scheffer IE, Cardenas P, et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 1996;16:77-87.
    • (1996) Neuron , vol.16 , pp. 77-87
    • Eksioglu, Y.Z.1    Scheffer, I.E.2    Cardenas, P.3
  • 172
    • 0029999362 scopus 로고    scopus 로고
    • Hyperexcitability in a model of cortical maldevelopment
    • Jacobs KM, Gutnick MJ, Prince DA. Hyperexcitability in a model of cortical maldevelopment. Cereb Cortex 1996;6:514-23.
    • (1996) Cereb Cortex , vol.6 , pp. 514-523
    • Jacobs, K.M.1    Gutnick, M.J.2    Prince, D.A.3
  • 173
    • 0030989497 scopus 로고    scopus 로고
    • Mechanism underlying neuronal migration disorders and epilepsy
    • Flint AC, Kriegstein AR. Mechanism underlying neuronal migration disorders and epilepsy. Curr Opin Neurol 1997:10:92-7.
    • (1997) Curr Opin Neurol , vol.10 , pp. 92-97
    • Flint, A.C.1    Kriegstein, A.R.2
  • 174
    • 0018244387 scopus 로고
    • Mechanism of cortical development: A view from mutations in mice
    • Caviness VS Jr, Rakic P, Mechanism of cortical development: a view from mutations in mice. Annu Rev Neurosci 1978;1:297-326.
    • (1978) Annu Rev Neurosci , vol.1 , pp. 297-326
    • Caviness V.S., Jr.1    Rakic, P.2
  • 175
    • 0028940096 scopus 로고
    • A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
    • D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T. A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 1995;374:719-23.
    • (1995) Nature , vol.374 , pp. 719-723
    • D'Arcangelo, G.1    Miao, G.G.2    Chen, S.C.3    Soares, H.D.4    Morgan, J.I.5    Curran, T.6
  • 176
    • 0030717493 scopus 로고    scopus 로고
    • Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice
    • Sheldon M, Rice DS, D'Arcangelo G, et al. Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice. Nature 1997;389:730-3.
    • (1997) Nature , vol.389 , pp. 730-733
    • Sheldon, M.1    Rice, D.S.2    D'Arcangelo, G.3
  • 177
    • 0030868450 scopus 로고    scopus 로고
    • Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse
    • Ware ML, Fox JW, Gonzalez JL, et al. Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron 1997;19:239-49.
    • (1997) Neuron , vol.19 , pp. 239-249
    • Ware, M.L.1    Fox, J.W.2    Gonzalez, J.L.3
  • 178
    • 0030797143 scopus 로고    scopus 로고
    • A genetic animal model of human neocortical heterotopia associated with seizures
    • Lee KS, Schottler F, Collins JL, et al. A genetic animal model of human neocortical heterotopia associated with seizures. J Neurosci 1997;17:6236-42.
    • (1997) J Neurosci , vol.17 , pp. 6236-6242
    • Lee, K.S.1    Schottler, F.2    Collins, J.L.3
  • 181
    • 0022249463 scopus 로고
    • Fragile X syndrome associated neurological abnormalities and developmental disabilities
    • Wisniewski KE, French JH, Fernando S, et al. Fragile X syndrome associated neurological abnormalities and developmental disabilities. Ann Neurol 1985;18:665-9.
    • (1985) Ann Neurol , vol.18 , pp. 665-669
    • Wisniewski, K.E.1    French, J.H.2    Fernando, S.3
  • 182
    • 0023945418 scopus 로고
    • Fragile-X syndrome: A particular epileptogenic EEG pattern
    • Musumeci SA, Colognola RM, Ferri R, et al. Fragile-X syndrome: a particular epileptogenic EEG pattern. Epilepsia 1988; 29:41-7.
    • (1988) Epilepsia , vol.29 , pp. 41-47
    • Musumeci, S.A.1    Colognola, R.M.2    Ferri, R.3
  • 183
  • 185
    • 0028246435 scopus 로고
    • Fmr1 knockout mice: A model to study fragile X mental retardation: The Dutch-Belgian Fragile X Consortium
    • Bakker CE, Verheij C, Willemsen R, et al. Fmr1 knockout mice: a model to study fragile X mental retardation: the Dutch-Belgian Fragile X Consortium. Cell 1994;78:23-33.
    • (1994) Cell , vol.78 , pp. 23-33
    • Bakker, C.E.1    Verheij, C.2    Willemsen, R.3
  • 186
    • 84995191751 scopus 로고
    • "Puppet" children: A report of three cases
    • Angelman H. "Puppet" children: a report of three cases. Dev Med Child Neurol 1965;7:681-7.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-687
    • Angelman, H.1
  • 187
    • 0028803823 scopus 로고
    • Seizures and EEG patterns in Angelman's syndrome
    • Viani F, Romeo A, Viri M, et al. Seizures and EEG patterns in Angelman's syndrome. J Child Neurol 1995;10:467-71.
    • (1995) J Child Neurol , vol.10 , pp. 467-471
    • Viani, F.1    Romeo, A.2    Viri, M.3
  • 188
    • 15144357226 scopus 로고    scopus 로고
    • Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
    • Minassian BA, DeLorey TM, Olsen RW, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998;43:485-93.
    • (1998) Ann Neurol , vol.43 , pp. 485-493
    • Minassian, B.A.1    DeLorey, T.M.2    Olsen, R.W.3
  • 189
    • 0027074912 scopus 로고
    • Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities
    • Sugimoto T, Yasuhara A, Ohta T, et al. Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. Epilepsia 1992;33:1078-82.
    • (1992) Epilepsia , vol.33 , pp. 1078-1082
    • Sugimoto, T.1    Yasuhara, A.2    Ohta, T.3
  • 191
    • 0023925498 scopus 로고
    • The EEG in early diagnosis of the Angelman (happy puppet) syndrome
    • Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988;147: 508-13.
    • (1988) Eur J Pediatr , vol.147 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 192
    • 0031050904 scopus 로고    scopus 로고
    • Evolution of epilepsy and EEG findings in Angelman syndrome
    • Laan LA, Renier WO, Arts WF, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997;38:195-9.
    • (1997) Epilepsia , vol.38 , pp. 195-199
    • Laan, L.A.1    Renier, W.O.2    Arts, W.F.3
  • 193
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-3.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 194
    • 0026338111 scopus 로고
    • A receptor beta 3 subunit to the Angelman/ Prader-Willi region of human chromosome 15
    • A receptor beta 3 subunit to the Angelman/ Prader-Willi region of human chromosome 15. Am J Hum Genet 1991;49:330-7.
    • (1991) Am J Hum Genet , vol.49 , pp. 330-337
    • Wagstaff, J.1    Knoll, J.H.2    Fleming, J.3
  • 195
    • 0030890115 scopus 로고    scopus 로고
    • The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
    • Sutcliffe JS, Jiang YH, Galijaard RJ, et al. The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res 1997;7:368-77.
    • (1997) Genome Res , vol.7 , pp. 368-377
    • Sutcliffe, J.S.1    Jiang, Y.H.2    Galijaard, R.J.3
  • 196
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997;15:74-7.
    • (1997) Nat Genet , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3
  • 197
    • 17344362235 scopus 로고    scopus 로고
    • Mutation analysis of UBE3A in Angelman syndrome patients
    • Malzac P, Webber H, Moncla A, et al. Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 1998;62:1353-60.
    • (1998) Am J Hum Genet , vol.62 , pp. 1353-1360
    • Malzac, P.1    Webber, H.2    Moncla, A.3
  • 199
    • 0032531430 scopus 로고    scopus 로고
    • 3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
    • 3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. J Neurosci 1998;18:8505-14.
    • (1998) J Neurosci , vol.18 , pp. 8505-8514
    • DeLorey, T.M.1    Handforth, A.2    Anagnostaras, S.G.3
  • 205
    • 0016134859 scopus 로고
    • The prevalence of epilepsy among mongols related to age
    • Veall RM, The prevalence of epilepsy among mongols related to age. J Ment Defic Res 1974;18:99-106.
    • (1974) J Ment Defic Res , vol.18 , pp. 99-106
    • Veall, R.M.1
  • 206
    • 0028260762 scopus 로고
    • Infantile spasms in children with Down syndrome
    • Stafstrom CE, Kondol RJ. Infantile spasms in children with Down syndrome. Dev Med Child Neurol 1994;36:576-85.
    • (1994) Dev Med Child Neurol , vol.36 , pp. 576-585
    • Stafstrom, C.E.1    Kondol, R.J.2
  • 208
    • 0024370171 scopus 로고
    • A prospective study of Alzheimer disease in Down syndrome
    • Lai F, Williams RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol 1989;46:849-53.
    • (1989) Arch Neurol , vol.46 , pp. 849-853
    • Lai, F.1    Williams, R.S.2
  • 209
    • 0025305413 scopus 로고
    • The natural history of dementia in Down's syndrome
    • Evenhuis HM. The natural history of dementia in Down's syndrome. Arch Neurol 1990;47:263-7.
    • (1990) Arch Neurol , vol.47 , pp. 263-267
    • Evenhuis, H.M.1
  • 210
    • 0021276604 scopus 로고
    • Down's syndrome: Is there a decreased population of neurons?
    • Ross MH, Galaburda AM, Kemper TL. Down's syndrome: is there a decreased population of neurons? Neurology 1984;34: 909-16.
    • (1984) Neurology , vol.34 , pp. 909-916
    • Ross, M.H.1    Galaburda, A.M.2    Kemper, T.L.3
  • 211
    • 0021601145 scopus 로고
    • Evidence of arrest of neurogenesis and synaptogenesis in brains of patients with Down's syndrome
    • Wisniewski KE, Laure-Kamionowska M, Wisniewski HM. Evidence of arrest of neurogenesis and synaptogenesis in brains of patients with Down's syndrome. N Engl J Med 1984;311:1187-8.
    • (1984) N Engl J Med , vol.311 , pp. 1187-1188
    • Wisniewski, K.E.1    Laure-Kamionowska, M.2    Wisniewski, H.M.3
  • 212
    • 0022506009 scopus 로고
    • Dendritic atrophy in children with Down's syndrome
    • Becker LE, Armstrong DL, Chan F. Dendritic atrophy in children with Down's syndrome. Ann Neurol 1986;20:520-6.
    • (1986) Ann Neurol , vol.20 , pp. 520-526
    • Becker, L.E.1    Armstrong, D.L.2    Chan, F.3
  • 213
    • 0027217808 scopus 로고
    • Epilepsy in Down syndrome: Clinical aspects and possible mechanisms
    • Stafstrom CE, Epilepsy in Down syndrome: clinical aspects and possible mechanisms. Am J Ment Retard 1993; 98(suppl):12-26.
    • (1993) Am J Ment Retard , vol.98 , Issue.SUPPL. , pp. 12-26
    • Stafstrom, C.E.1
  • 214
    • 0019614411 scopus 로고
    • Abnormal electric membrane properties of Down's syndrome DRF neurons in cell culture
    • Scott BS, Petit TL, Becker LE, Edwards BA. Abnormal electric membrane properties of Down's syndrome DRF neurons in cell culture. Brain Res 1981;254:257-70.
    • (1981) Brain Res , vol.254 , pp. 257-270
    • Scott, B.S.1    Petit, T.L.2    Becker, L.E.3    Edwards, B.A.4
  • 215
    • 0025216912 scopus 로고
    • The role of altered sodium currents in action potential abnormalities of cultured dorsal root ganglion neurons from trisomy 21 (Down syndrome) human fetuses
    • Caviedes P, Ault B, Rapoport SI. The role of altered sodium currents in action potential abnormalities of cultured dorsal root ganglion neurons from trisomy 21 (Down syndrome) human fetuses. Brain Res 1990;510:229-36.
    • (1990) Brain Res , vol.510 , pp. 229-236
    • Caviedes, P.1    Ault, B.2    Rapoport, S.I.3
  • 216
    • 0026569335 scopus 로고
    • Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome
    • Holtzman DM, Bayney RM, Li YW, et al. Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome. EMBO J 1992;11:619-27.
    • (1992) EMBO J , vol.11 , pp. 619-627
    • Holtzman, D.M.1    Bayney, R.M.2    Li, Y.W.3
  • 218
    • 0024498840 scopus 로고
    • Neurophysiological abnormalities in cultured dorsal root ganglion neurons from the trisomy-16 mouse fetus, a model for Down syndrome
    • Ault B, Caviedes P, Rapoport SI. Neurophysiological abnormalities in cultured dorsal root ganglion neurons from the trisomy-16 mouse fetus, a model for Down syndrome. Brain Res 1989;485: 165-70.
    • (1989) Brain Res , vol.485 , pp. 165-170
    • Ault, B.1    Caviedes, P.2    Rapoport, S.I.3
  • 219
    • 0030569603 scopus 로고    scopus 로고
    • Reduced expression of voltage-gated sodium channels in neurons cultured from trisomy 16 mouse hippocampus
    • Stoll J, Galdzicki Z. Reduced expression of voltage-gated sodium channels in neurons cultured from trisomy 16 mouse hippocampus. Int J Dev Neurosci 1996;14:749-60.
    • (1996) Int J Dev Neurosci , vol.14 , pp. 749-760
    • Stoll, J.1    Galdzicki, Z.2
  • 220
    • 0029114706 scopus 로고
    • A mouse model for Down syndrome exhibits learning and behaviour deficits
    • Reeves RH, Irving NG, Moran TH, et al. A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet 1995;11:177-84.
    • (1995) Nat Genet , vol.11 , pp. 177-184
    • Reeves, R.H.1    Irving, N.G.2    Moran, T.H.3
  • 221
    • 0031414807 scopus 로고    scopus 로고
    • Altered long-term potentiation in the young and old TS65Dn mouse, a model for Down syndrome
    • Siarey RJ, Stoll J, Rapoport SI, Galdzicki Z. Altered long-term potentiation in the young and old TS65Dn mouse, a model for Down syndrome. Neuropharmacology 1997;36:1549-54.
    • (1997) Neuropharmacology , vol.36 , pp. 1549-1554
    • Siarey, R.J.1    Stoll, J.2    Rapoport, S.I.3    Galdzicki, Z.4
  • 223
    • 0025293991 scopus 로고
    • Enhanced production of superoxide anion by microglia from trisomy 16 mice
    • Colton CA, Yao JB, Gilbert D, Oster-Granite ML. Enhanced production of superoxide anion by microglia from trisomy 16 mice. Brain Res 1990;519:236-42.
    • (1990) Brain Res , vol.519 , pp. 236-242
    • Colton, C.A.1    Yao, J.B.2    Gilbert, D.3    Oster-Granite, M.L.4
  • 224
    • 0025909848 scopus 로고
    • Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22
    • Lehesjoki AE, Koskiniemi M, Sistonen P, et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 1991;88:3696-9.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 3696-3699
    • Lehesjoki, A.E.1    Koskiniemi, M.2    Sistonen, P.3
  • 225
    • 0027392741 scopus 로고
    • The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis
    • Eubanks JH, Puranam Rs, Kleckner NW, Bettler B, Heinemann SF, McNamara JO. The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 1993;90:178-82.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 178-182
    • Eubanks, J.H.1    Puranam, R.S.2    Kleckner, N.W.3    Bettler, B.4    Heinemann, S.F.5    McNamara, J.O.6
  • 226
    • 0020683566 scopus 로고
    • Pyridoxine-dependency seizure: Report of a rare presentation
    • Krishnamoorthy KS. Pyridoxine-dependency seizure: report of a rare presentation. Ann Neurol 1983;13:103-4.
    • (1983) Ann Neurol , vol.13 , pp. 103-104
    • Krishnamoorthy, K.S.1
  • 227
    • 0021962790 scopus 로고
    • Atypical presentations of pyridoxine-dependent seizures: A treatable cause of intractable epilepsy in infants
    • Goutieres F, Aicardi J. Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol 1985;17:117-20.
    • (1985) Ann Neurol , vol.17 , pp. 117-120
    • Goutieres, F.1    Aicardi, J.2
  • 228
    • 0014696022 scopus 로고
    • Glutamic acid decarboxylase (GAD) in mammalian tissue ouside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures
    • Scriver CR, Whelan DT. Glutamic acid decarboxylase (GAD) in mammalian tissue ouside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures. Ann NY Acad Sci 1969;166:83-96.
    • (1969) Ann NY Acad Sci , vol.166 , pp. 83-96
    • Scriver, C.R.1    Whelan, D.T.2
  • 229
    • 0026577196 scopus 로고
    • Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene
    • Bu DF, Erlander MG, Hitz BC, Tillakaratne NJ, et al. Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. Proc Natl Acad Sci USA 1992:89: 2115-9.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2115-2119
    • Bu, D.F.1    Erlander, M.G.2    Hitz, B.C.3    Tillakaratne, N.J.4
  • 231
    • 0025803020 scopus 로고
    • Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities
    • Sutherland SJ, Olsen RD, Michels V, Schmidt MA, O'Brien JF. Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. Clin Pediatr 1991; 30:81-4.
    • (1991) Clin Pediatr , vol.30 , pp. 81-84
    • Sutherland, S.J.1    Olsen, R.D.2    Michels, V.3    Schmidt, M.A.4    O'Brien, J.F.5
  • 232
    • 0025987716 scopus 로고
    • Biotinidase deficiency
    • Wolf B, Heard GS. Biotinidase deficiency. Adv Pediatr 1991;38: 1-21.
    • (1991) Adv Pediatr , vol.38 , pp. 1-21
    • Wolf, B.1    Heard, G.S.2
  • 233
    • 0029114718 scopus 로고
    • Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
    • Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet 1995;11:96-8.
    • (1995) Nat Genet , vol.11 , pp. 96-98
    • Pomponio, R.J.1    Reynolds, T.R.2    Cole, H.3    Buck, G.A.4    Wolf, B.5
  • 234
    • 0031001357 scopus 로고    scopus 로고
    • Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children
    • Pomponio RJ, Norrgard KJ, Hymes J, et al. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. Hum Genet 1997;99:506-12.
    • (1997) Hum Genet , vol.99 , pp. 506-512
    • Pomponio, R.J.1    Norrgard, K.J.2    Hymes, J.3
  • 235
    • 0031171210 scopus 로고    scopus 로고
    • Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States
    • Norrgard KJ, Pomponio RJ, Swango KL, et al. Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. Biochem Mol Med 1997;61:22-7.
    • (1997) Biochem Mol Med , vol.61 , pp. 22-27
    • Norrgard, K.J.1    Pomponio, R.J.2    Swango, K.L.3
  • 236
    • 0029166501 scopus 로고
    • Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p24
    • Huang F, Shi U, Heng HH, Fei J, Guo LH. Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p24. Genomics 1995;29:302-4.
    • (1995) Genomics , vol.29 , pp. 302-304
    • Huang, F.1    Shi, U.2    Heng, H.H.3    Fei, J.4    Guo, L.H.5
  • 238
    • 0020504095 scopus 로고
    • Early myoclonic epileptic encephalopathy (E.M.E.E.)
    • Dalla Bernardina B, Dulac O, Fejerman N, et al. Early myoclonic epileptic encephalopathy (E.M.E.E.). Eur J Pediatr 1983;140: 248-52.
    • (1983) Eur J Pediatr , vol.140 , pp. 248-252
    • Dalla Bernardina, B.1    Dulac, O.2    Fejerman, N.3
  • 239
    • 0004096160 scopus 로고    scopus 로고
    • Inherited metabolic diseases
    • Engel J, Pedley TA, eds. Philadelphia: Lippincott-Raven
    • Garcia-Alvarez M, Nordli D, DeVivo D. Inherited metabolic diseases. In: Engel J, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott-Raven, 1997:2547-62.
    • (1997) Epilepsy: A Comprehensive Textbook , pp. 2547-2562
    • Garcia-Alvarez, M.1    Nordli, D.2    DeVivo, D.3
  • 240
    • 0028138309 scopus 로고
    • Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12
    • Isobe M, Koyata H, Sakakibara T, Momoi-Isobe K, Hiraga K. Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12. Biochem Biophys Res Commun 1994;203:1483-7.
    • (1994) Biochem Biophys Res Commun , vol.203 , pp. 1483-1487
    • Isobe, M.1    Koyata, H.2    Sakakibara, T.3    Momoi-Isobe, K.4    Hiraga, K.5
  • 242
    • 0023091647 scopus 로고
    • Glycine potentiates the NMDA response in cultured mouse brain neurons
    • Johnson JW, Ascher P. Glycine potentiates the NMDA response in cultured mouse brain neurons. Nature 1987;325:529-31.
    • (1987) Nature , vol.325 , pp. 529-531
    • Johnson, J.W.1    Ascher, P.2
  • 243
    • 0030958281 scopus 로고    scopus 로고
    • Nonketotic hyperglycinemia: Biochemical, molecular, and neurological aspects
    • Kure S, Tada K, Narisawa K. Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects. Jpn J Hum Genet 1997;42:13-22.
    • (1997) Jpn J Hum Genet , vol.42 , pp. 13-22
    • Kure, S.1    Tada, K.2    Narisawa, K.3
  • 244
    • 0025666322 scopus 로고
    • A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990:348:651-3.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 245
    • 0028887910 scopus 로고
    • Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene
    • Shoffner JM, Bialer MG, Pavlakis SG, et al. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. Neurology 1995; 45:286-92.
    • (1995) Neurology , vol.45 , pp. 286-292
    • Shoffner, J.M.1    Bialer, M.G.2    Pavlakis, S.G.3
  • 246
    • 0029029469 scopus 로고
    • Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
    • Morgan-Hughes JA, Sweeney MG, Cooper JM, et al. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta 1995;1271:135-40.
    • (1995) Biochim Biophys Acta , vol.1271 , pp. 135-140
    • Morgan-Hughes, J.A.1    Sweeney, M.G.2    Cooper, J.M.3
  • 248
    • 0032055649 scopus 로고    scopus 로고
    • Deletion of the K(V)1.1 potassium channel causes epilepsy in mice
    • Smart SL, Lopantsev V, Zhang CL, et al. Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron 1998;20:809-19.
    • (1998) Neuron , vol.20 , pp. 809-819
    • Smart, S.L.1    Lopantsev, V.2    Zhang, C.L.3
  • 249
    • 0030851734 scopus 로고    scopus 로고
    • Kainic acid-induced generalized seizures alter the regional hippocampal expression of the rat Kv4.2 potassium channel gene
    • Francis J, Jugloff DG, Mingo NS, et al. Kainic acid-induced generalized seizures alter the regional hippocampal expression of the rat Kv4.2 potassium channel gene. Neurosci Lett 1997;232: 91-4.
    • (1997) Neurosci Lett , vol.232 , pp. 91-94
    • Francis, J.1    Jugloff, D.G.2    Mingo, N.S.3
  • 251
    • 0029024135 scopus 로고
    • Essential functions of synapsins I and II in synaptic vesicle regulation
    • Rosahl TW, Spillane D, Missler M, et al. Essential functions of synapsins I and II in synaptic vesicle regulation. Nature 1995; 375:488-93.
    • (1995) Nature , vol.375 , pp. 488-493
    • Rosahl, T.W.1    Spillane, D.2    Missler, M.3
  • 253
    • 13344250473 scopus 로고    scopus 로고
    • Ataxia and epileptic seizures in mice lacking type 1 inositol-1,4,5-triphosphate receptor
    • Matsumoto M, Nakagawa T, Inoue T, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol-1,4,5-triphosphate receptor. Nature 1996;379:168-71.
    • (1996) Nature , vol.379 , pp. 168-171
    • Matsumoto, M.1    Nakagawa, T.2    Inoue, T.3
  • 254
    • 0029610443 scopus 로고
    • Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice
    • Brusa R, Zimmermann F, Koh DS, et al. Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science 1995;270:1677-80.
    • (1995) Science , vol.270 , pp. 1677-1680
    • Brusa, R.1    Zimmermann, F.2    Koh, D.S.3
  • 256
    • 13344286293 scopus 로고    scopus 로고
    • Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate
    • Rothstein JD, Dykes-Hoberg M, Pardo CA, et al. Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate. Neuron 1996;16: 675-86.
    • (1996) Neuron , vol.16 , pp. 675-686
    • Rothstein, J.D.1    Dykes-Hoberg, M.2    Pardo, C.A.3
  • 257
    • 0030812843 scopus 로고    scopus 로고
    • Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1
    • Tanaka K, Watase K, Manabe T, et al. Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 1997;276:1699-702.
    • (1997) Science , vol.276 , pp. 1699-1702
    • Tanaka, K.1    Watase, K.2    Manabe, T.3
  • 258
    • 0028866034 scopus 로고
    • Overexpression of the neural growth-associated protein GAP-43 induces nerve sprouting in the adult nervous system of transgenic mice
    • Aigner L, Arber S, Kapfhammer JP, et al. Overexpression of the neural growth-associated protein GAP-43 induces nerve sprouting in the adult nervous system of transgenic mice. Cell 1995;83: 269-78.
    • (1995) Cell , vol.83 , pp. 269-278
    • Aigner, L.1    Arber, S.2    Kapfhammer, J.P.3
  • 259
    • 0028133486 scopus 로고
    • Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene
    • Kagawa T, Ikenaka K, Inoue Y, et al. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 1994:;13:427-42.
    • (1994) Neuron , vol.13 , pp. 427-442
    • Kagawa, T.1    Ikenaka, K.2    Inoue, Y.3
  • 260
    • 0029820548 scopus 로고    scopus 로고
    • Epilepsy and brain abnormalities in mice lacking the Otx1 gene
    • Acampora D, Mazan S, Avantaggiato V, et al. Epilepsy and brain abnormalities in mice lacking the Otx1 gene. Nat Genet 1996; 14:218-22.
    • (1996) Nat Genet , vol.14 , pp. 218-222
    • Acampora, D.1    Mazan, S.2    Avantaggiato, V.3
  • 261
    • 0345125548 scopus 로고    scopus 로고
    • Epilepsy genes make their entrance
    • Noebels J. Epilepsy genes make their entrance. AES News 1998; 6:1-3.
    • (1998) AES News , vol.6 , pp. 1-3
    • Noebels, J.1
  • 262
    • 0029013275 scopus 로고
    • Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: Linkage to convulsions and electroencephalography trait
    • Liu AW, Delgado-Escueta AV, Serratosa JM, et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-81.
    • (1995) Am J Hum Genet , vol.57 , pp. 368-381
    • Liu, A.W.1    Delgado-Escueta, A.V.2    Serratosa, J.M.3
  • 265
    • 0029931255 scopus 로고    scopus 로고
    • Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p
    • Ranta S, Lehoesjoki AE, Hirvasniemi A, et al. Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. Genome Res 1996;6:351-60.
    • (1996) Genome Res , vol.6 , pp. 351-360
    • Ranta, S.1    Lehoesjoki, A.E.2    Hirvasniemi, A.3
  • 266
    • 0029870731 scopus 로고    scopus 로고
    • Localization of a gene for a glutamate binding subunit of a NMDa receptor (GRINA) to 8p24
    • Lewis TB, Wood S, Michaelis EK, DuPont BR, Leach RJ. Localization of a gene for a glutamate binding subunit of a NMDA receptor (GRINA) to 8p24. Genomics 1996; 32:131-3.
    • (1996) Genomics , vol.32 , pp. 131-133
    • Lewis, T.B.1    Wood, S.2    Michaelis, E.K.3    DuPont, B.R.4    Leach, R.J.5
  • 267
    • 0029159814 scopus 로고
    • Epileptic seizures caused by inactivation of a novel gene, jerky, related to centro-mere binding protein-B in transgenic mice
    • Toth M, Grimsby J, Buzsaki G, Donovan GP. Epileptic seizures caused by inactivation of a novel gene, jerky, related to centro-mere binding protein-B in transgenic mice. Nat Genet 1995;11: 71-5.
    • (1995) Nat Genet , vol.11 , pp. 71-75
    • Toth, M.1    Grimsby, J.2    Buzsaki, G.3    Donovan, G.P.4
  • 270
    • 0030971230 scopus 로고    scopus 로고
    • SSCP variants within the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor gene
    • Phillips HA, Hulley JC. SSCP variants within the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor gene. Clin Genet 1997;51:135-6.
    • (1997) Clin Genet , vol.51 , pp. 135-136
    • Phillips, H.A.1    Hulley, J.C.2
  • 271
    • 0028029278 scopus 로고
    • The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
    • Green AJ, Johnson PH, Yates JR. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 1994;3:1833-4.
    • (1994) Hum Mol Genet , vol.3 , pp. 1833-1834
    • Green, A.J.1    Johnson, P.H.2    Yates, J.R.3
  • 272
    • 0344694859 scopus 로고    scopus 로고
    • X-linked lissencephaly and SBH (XLIS): Mapping of a novel neuronal migration gene
    • Srivastava AK, Ross ME, Allen KM, et al. X-linked lissencephaly and SBH (XLIS): mapping of a novel neuronal migration gene. Am J Hum Genet 1996;59(suppl):A55.
    • (1996) Am J Hum Genet , vol.59 , Issue.SUPPL.
    • Srivastava, A.K.1    Ross, M.E.2    Allen, K.M.3
  • 273
    • 0027176708 scopus 로고
    • Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
    • Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-21.
    • (1993) Nature , vol.364 , pp. 717-721
    • Reiner, O.1    Carrozzo, R.2    Shen, Y.3
  • 274
    • 0027727219 scopus 로고
    • Toward a molecular understanding of Down syndrome
    • Korenberg JR. Toward a molecular understanding of Down syndrome. Prog Clin Biol Res 1993;384:87-115.
    • (1993) Prog Clin Biol Res , vol.384 , pp. 87-115
    • Korenberg, J.R.1
  • 275
    • 0029392822 scopus 로고
    • Mental modelling
    • Korenberg JR. Mental modelling. Nat Genet 1995;11:109-11.
    • (1995) Nat Genet , vol.11 , pp. 109-111
    • Korenberg, J.R.1
  • 276
    • 0028868387 scopus 로고
    • 4p(-) syndrome: A chromosomal disorder associated with a particular EEG pattern
    • Sgro V, Riva E, Canevini MP, et al. 4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern. Epilepsia 1995;36:1206-14.
    • (1995) Epilepsia , vol.36 , pp. 1206-1214
    • Sgro, V.1    Riva, E.2    Canevini, M.P.3
  • 278
    • 0025006217 scopus 로고
    • Trisomy 12p syndrome: A chromosomal disorder associated with generalized 3-Hz spike and wave discharges
    • Guerrini R, Bureau M, Mattei MG, Battaglia A, Galland MC, Roger J. Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. Epilepsia 1990;31:557-66.
    • (1990) Epilepsia , vol.31 , pp. 557-566
    • Guerrini, R.1    Bureau, M.2    Mattei, M.G.3    Battaglia, A.4    Galland, M.C.5    Roger, J.6
  • 280
    • 0030902026 scopus 로고    scopus 로고
    • The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
    • Battaglia A, Gurrieri F, Bertini E, et al. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997;48:1081-6.
    • (1997) Neurology , vol.48 , pp. 1081-1086
    • Battaglia, A.1    Gurrieri, F.2    Bertini, E.3
  • 281
    • 0030911459 scopus 로고    scopus 로고
    • Ring chromosome 20 and nonconvulsive status epilepticus: A new epileptic syndrome
    • Inoue Y, Fujiwara T, Matsuda K, et al. Ring chromosome 20 and nonconvulsive status epilepticus: a new epileptic syndrome. Brain 1997;120:939-53.
    • (1997) Brain , vol.120 , pp. 939-953
    • Inoue, Y.1    Fujiwara, T.2    Matsuda, K.3
  • 282
    • 0029806140 scopus 로고    scopus 로고
    • Isolation and characterization of the mouse cystatin B gene
    • Pennacchio LA, Myers RM. Isolation and characterization of the mouse cystatin B gene. Genome Res 1996;6:1103-9.
    • (1996) Genome Res , vol.6 , pp. 1103-1109
    • Pennacchio, L.A.1    Myers, R.M.2
  • 283
    • 17744419667 scopus 로고    scopus 로고
    • Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
    • Virtaneva K, D'Amato E, Miao J, et al. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 1997;15:393-6.
    • (1997) Nat Genet , vol.15 , pp. 393-396
    • Virtaneva, K.1    D'Amato, E.2    Miao, J.3
  • 284
    • 0023131172 scopus 로고
    • A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
    • Tsuji S, Choudary PV, Martin BM, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 1987;316:570-5.
    • (1987) N Engl J Med , vol.316 , pp. 570-575
    • Tsuji, S.1    Choudary, P.V.2    Martin, B.M.3
  • 285
    • 0030451974 scopus 로고    scopus 로고
    • Characterization of human lysosomal neuraminidase defines the moldecular basis of the metabolic storage disorder sialidosis
    • Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A. Characterization of human lysosomal neuraminidase defines the moldecular basis of the metabolic storage disorder sialidosis. Genes Dev 1996;10:3156-69.
    • (1996) Genes Dev , vol.10 , pp. 3156-3169
    • Bonten, E.1    Van Der Spoel, A.2    Fornerod, M.3    Grosveld, G.4    D'Azzo, A.5
  • 286
    • 0023214506 scopus 로고
    • Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases
    • Hayasaka K, Tada K, Fueki N, et al. Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr 1987;110:873-7.
    • (1987) J Pediatr , vol.110 , pp. 873-877
    • Hayasaka, K.1    Tada, K.2    Fueki, N.3
  • 288
    • 0028095257 scopus 로고
    • Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitis
    • Rogers SW, Andrews PI, Gahring LC, et al. Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitis. Science 1994;265:648-51.
    • (1994) Science , vol.265 , pp. 648-651
    • Rogers, S.W.1    Andrews, P.I.2    Gahring, L.C.3
  • 291
    • 0029115971 scopus 로고
    • A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation
    • Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS. A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nat Genet 1995;11: 126-9.
    • (1995) Nat Genet , vol.11 , pp. 126-129
    • Patil, N.1    Cox, D.R.2    Bhat, D.3    Faham, M.4    Myers, R.M.5    Peterson, A.S.6
  • 292
    • 0030925348 scopus 로고    scopus 로고
    • Sensitivity to jerky gene dosage underlies epileptic seizures in mice
    • Donovan GP, Harden C, Gal J, et al. Sensitivity to jerky gene dosage underlies epileptic seizures in mice. J Neurosci 1997;17: 4562-9.
    • (1997) J Neurosci , vol.17 , pp. 4562-4569
    • Donovan, G.P.1    Harden, C.2    Gal, J.3
  • 294
    • 0029088484 scopus 로고
    • Excitotoxin-induced neuronal degeneration and seizure are mediated by tissue plasminogen activator
    • Tsirka SE, Gualandris A, Amaral DG, Strickland S, Excitotoxin-induced neuronal degeneration and seizure are mediated by tissue plasminogen activator. Nature 1995;377:340-4.
    • (1995) Nature , vol.377 , pp. 340-344
    • Tsirka, S.E.1    Gualandris, A.2    Amaral, D.G.3    Strickland, S.4
  • 296
    • 0031092272 scopus 로고    scopus 로고
    • The human gene mutation database
    • Krawczak M, Cooper DN. The human gene mutation database. Trend Genet 1997;13:121-2.
    • (1997) Trend Genet , vol.13 , pp. 121-122
    • Krawczak, M.1    Cooper, D.N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.