메뉴 건너뛰기




Volumn 46, Issue SUPPL. 10, 2005, Pages 61-67

Genetic focal epilepsies: State of the art and paths to the future

Author keywords

Familial focal epilepsies; Genetics

Indexed keywords

4 AMINOBUTYRIC ACID B RECEPTOR; ANTICONVULSIVE AGENT; APOLIPOPROTEIN E; GENE PRODUCT; NICOTINIC RECEPTOR; PRION PROTEIN; PRODYNORPHIN; PROTEIN LGI1;

EID: 33644802824     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2005.00361.x     Document Type: Conference Paper
Times cited : (30)

References (83)
  • 1
    • 0014574761 scopus 로고
    • EEG studies of relatives of probands with focal epilepsy who have been treated surgically
    • Andermann E, Metrakos JD. EEG studies of relatives of probands with focal epilepsy who have been treated surgically. Epilepsia 1969;10:415.
    • (1969) Epilepsia , vol.10 , pp. 415
    • Andermann, E.1    Metrakos, J.D.2
  • 2
    • 8544262301 scopus 로고
    • Multifactorial inheritance in the epilepsies
    • Canger R, Angeleri F, Penry JK, eds. New York: Raven Press
    • Andermann E. Multifactorial inheritance in the epilepsies. In: Canger R, Angeleri F, Penry JK, eds. Advances in epileptology. XII Epilepsy International Symposium. New York: Raven Press, 1980:297-309.
    • (1980) Advances in Epileptology. XII Epilepsy International Symposium , pp. 297-309
    • Andermann, E.1
  • 3
    • 0000887416 scopus 로고
    • Multifactorial inheritance of generalized and focal epilepsies
    • Anderson VE et al. eds. New York: Raven Press
    • Andermann E. Multifactorial inheritance of generalized and focal epilepsies. In: Genetic basis of the epilepsies. Anderson VE et al. eds. New York: Raven Press, 1982:355-74.
    • (1982) Genetic Basis of the Epilepsies , pp. 355-374
    • Andermann, E.1
  • 4
    • 0242501889 scopus 로고
    • Genetic aspects of the epilepsies
    • Sakai T, Tsuboi T, eds. Tokyo: Igaku-Shoin
    • Andermann E. Genetic aspects of the epilepsies. In: Genetic aspects of human behavior. Sakai T, Tsuboi T, eds. Tokyo: Igaku-Shoin, 1985:129-45.
    • (1985) Genetic Aspects of Human Behavior , pp. 129-145
    • Andermann, E.1
  • 5
    • 0034957202 scopus 로고    scopus 로고
    • A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology
    • Engel J Jr. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:796-803.
    • (2001) Epilepsia , vol.42 , pp. 796-803
    • Engel Jr., J.1
  • 6
    • 0028011992 scopus 로고
    • Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep 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
  • 7
    • 0028900303 scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995;118(Pt 1):61-73.
    • (1995) Brain , vol.118 , Issue.PART 1 , pp. 61-73
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 8
    • 4344652177 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview
    • Combi R, Dalpra L, Tenchini ML, et al. Autosomal dominant nocturnal frontal lobe epilepsy - a critical overview. J Neurol 2004;251:923-34.
    • (2004) J Neurol , vol.251 , pp. 923-934
    • Combi, R.1    Dalpra, L.2    Tenchini, M.L.3
  • 9
    • 0030697469 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation
    • Hayman M, Scheffer IE, Chinvarun Y, et al. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology 1997;49:969-75.
    • (1997) Neurology , vol.49 , pp. 969-975
    • Hayman, M.1    Scheffer, I.E.2    Chinvarun, Y.3
  • 10
    • 0029045967 scopus 로고
    • Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
    • Phillips HA, Scheffer IE, Berkovic SF, et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet 1995;10:117-8.
    • (1995) Nat Genet , vol.10 , pp. 117-118
    • Phillips, H.A.1    Scheffer, I.E.2    Berkovic, S.F.3
  • 11
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal 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
  • 12
    • 0030916583 scopus 로고    scopus 로고
    • An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6:943-947.
    • (1997) Hum Mol Genet , vol.6 , pp. 943-947
    • Steinlein, O.K.1    Magnusson, A.2    Stoodt, J.3
  • 13
    • 0032231423 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
    • Phillips HA, Scheffer IE, Crossland KM, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998;63:1108-16.
    • (1998) Am J Hum Genet , vol.63 , pp. 1108-1116
    • Phillips, H.A.1    Scheffer, I.E.2    Crossland, K.M.3
  • 14
    • 0033544326 scopus 로고    scopus 로고
    • A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
    • Hirose S, Iwata H, Akiyoshi H, et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 1999;53:1749-53.
    • (1999) Neurology , vol.53 , pp. 1749-1753
    • Hirose, S.1    Iwata, H.2    Akiyoshi, H.3
  • 15
    • 0033989534 scopus 로고    scopus 로고
    • Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family
    • Ito M, Kobayashi K, Fujii T, et al. Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. Epilepsia 2000;41:52-8.
    • (2000) Epilepsia , vol.41 , pp. 52-58
    • Ito, M.1    Kobayashi, K.2    Fujii, T.3
  • 16
    • 0034098251 scopus 로고    scopus 로고
    • Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy
    • Steinlein OK, Stoodt J, Mulley J, et al. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 2000;41:529-535.
    • (2000) Epilepsia , vol.41 , pp. 529-535
    • Steinlein, O.K.1    Stoodt, J.2    Mulley, J.3
  • 17
    • 0034727623 scopus 로고    scopus 로고
    • A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1
    • Gambardella A, Annesi G, De Fusco M, et al. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology 2000;55:1467-71.
    • (2000) Neurology , vol.55 , pp. 1467-1471
    • Gambardella, A.1    Annesi, G.2    De Fusco, M.3
  • 18
    • 0033763090 scopus 로고    scopus 로고
    • The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
    • De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-6.
    • (2000) Nat Genet , vol.26 , pp. 275-276
    • De Fusco, M.1    Becchetti, A.2    Patrignani, A.3
  • 19
    • 0035163074 scopus 로고    scopus 로고
    • CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001;68:225-31.
    • (2001) Am J Hum Genet , vol.68 , pp. 225-231
    • Phillips, H.A.1    Favre, I.2    Kirkpatrick, M.3
  • 20
    • 0038491560 scopus 로고    scopus 로고
    • A new CHRNA4 mutation with low penetrance in nocturnal frontal lobe epilepsy
    • Leniger T, Kananura C, Hufnagel A, et al. A new CHRNA4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia 2003;44:981-5.
    • (2003) Epilepsia , vol.44 , pp. 981-985
    • Leniger, T.1    Kananura, C.2    Hufnagel, A.3
  • 21
    • 0042878437 scopus 로고    scopus 로고
    • Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
    • McLellan A, Phillips HA, Rittey C, et al. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 2003;44:613-7.
    • (2003) Epilepsia , vol.44 , pp. 613-617
    • McLellan, A.1    Phillips, H.A.2    Rittey, C.3
  • 22
    • 0041570078 scopus 로고    scopus 로고
    • Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy
    • Rozycka A, Skorupska E, Kostyrko A, et al. Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 2003;44:1113-7.
    • (2003) Epilepsia , vol.44 , pp. 1113-1117
    • Rozycka, A.1    Skorupska, E.2    Kostyrko, A.3
  • 23
    • 0344117156 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene
    • Saenz A, Galan J, Caloustian C, et al. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch Neurol 1999;56:1004-9.
    • (1999) Arch Neurol , vol.56 , pp. 1004-1009
    • Saenz, A.1    Galan, J.2    Caloustian, C.3
  • 24
    • 18544363940 scopus 로고    scopus 로고
    • Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
    • Bonati MT, Combi R, Asselta R, et al. Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families. J Neurol 2002;249:967-74.
    • (2002) J Neurol , vol.249 , pp. 967-974
    • Bonati, M.T.1    Combi, R.2    Asselta, R.3
  • 25
    • 0033854176 scopus 로고    scopus 로고
    • A de novo mutation in sporadic nocturnal frontal lobe epilepsy
    • Phillips HA, Marini C, Scheffer IE, et al. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000;48:264-7.
    • (2000) Ann Neurol , vol.48 , pp. 264-267
    • Phillips, H.A.1    Marini, C.2    Scheffer, I.E.3
  • 26
    • 0031760549 scopus 로고    scopus 로고
    • Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy
    • Bertrand S, Weiland S, Berkovic SF, et al. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br J Pharmacol 1998;125:751-60.
    • (1998) Br J Pharmacol , vol.125 , pp. 751-760
    • Bertrand, S.1    Weiland, S.2    Berkovic, S.F.3
  • 27
    • 0036890835 scopus 로고    scopus 로고
    • Nicotinic receptors in circuit excitability and epilepsy
    • Raggenbass M, Bertrand D. Nicotinic receptors in circuit excitability and epilepsy. J Neurobiol 2002;53:580-9.
    • (2002) J Neurobiol , vol.53 , pp. 580-589
    • Raggenbass, M.1    Bertrand, D.2
  • 28
    • 0038606473 scopus 로고    scopus 로고
    • Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response
    • Rodrigues-Pinguet N, Jia L, Li M, et al. Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response. J Physiol 2003;550(Pt 1):11-26.
    • (2003) J Physiol , vol.550 , Issue.PART 1 , pp. 11-26
    • Rodrigues-Pinguet, N.1    Jia, L.2    Li, M.3
  • 30
    • 0141430882 scopus 로고    scopus 로고
    • Pseudotemporal vs neocortical temporal epilepsy: Things aren't always where they seem to be
    • Andermann F. Pseudotemporal vs neocortical temporal epilepsy: things aren't always where they seem to be. Neurology 2003;61:732-3.
    • (2003) Neurology , vol.61 , pp. 732-733
    • Andermann, F.1
  • 31
    • 0026055460 scopus 로고
    • Diffuse cortical dysplasia, or the 'double cortex' syndrome: The clinical and epileptic spectrum in 10 patients
    • Palmini A, Andermann F, Aicardi J, et al. Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. Neurology 1991;41:1656-62.
    • (1991) Neurology , vol.41 , pp. 1656-1662
    • Palmini, A.1    Andermann, F.2    Aicardi, J.3
  • 32
    • 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(Pt 5):1273-87.
    • (1995) Brain , vol.118 , Issue.PART 5 , pp. 1273-1287
    • Dubeau, F.1    Tampieri, D.2    Lee, N.3
  • 33
    • 0023950686 scopus 로고
    • Hypothalamic hamartomas and ictal laughter: Evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging
    • Berkovic SF, Andermann F, Melanson D, et al. Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann Neurol 1988;23:429-39.
    • (1988) Ann Neurol , vol.23 , pp. 429-439
    • Berkovic, S.F.1    Andermann, F.2    Melanson, D.3
  • 35
    • 23944446139 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy as a presenting feature of chorea-acanthocytosis
    • (in press)
    • Al-Asmi A, Jansen A, Badhwar A, et al. Familial temporal lobe epilepsy as a presenting feature of chorea-acanthocytosis. Epilepsia (in press).
    • Epilepsia
    • Al-Asmi, A.1    Jansen, A.2    Badhwar, A.3
  • 36
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on classification and terminology of the International League Against Epilepsy
    • Commission on classification and terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 37
    • 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
  • 38
    • 18544376557 scopus 로고    scopus 로고
    • Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features
    • Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-341.
    • (2002) Nat Genet , vol.30 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3
  • 39
    • 18344363561 scopus 로고    scopus 로고
    • Mutations in the LGI1/epitempin gene on 10q24 cause autosomal dominant lateral temporal lobe epilepsy
    • Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, et al. Mutations in the LGI1/epitempin gene on 10q24 cause autosomal dominant lateral temporal lobe epilepsy. Hum Mol Genet 2002;11:1119-28.
    • (2002) Hum Mol Genet , vol.11 , pp. 1119-1128
    • Morante-Redolat, J.M.1    Gorostidi-Pagola, A.2    Piquer-Sirerol, S.3
  • 40
    • 0035936621 scopus 로고    scopus 로고
    • Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy
    • Kobayashi E, Sousa SC, Lopes-Cendes I, et al. Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy. Neurology 2001;56:166-172.
    • (2001) Neurology , vol.56 , pp. 166-172
    • Kobayashi, E.1    Sousa, S.C.2    Lopes-Cendes, I.3
  • 42
    • 11144355359 scopus 로고    scopus 로고
    • LGI1 mutations in temporal lobe epilepsies
    • Berkovic SF, Izzillo P, McMahon JM, et al. LGI1 mutations in temporal lobe epilepsies. Neurology 2004;62:1115-9.
    • (2004) Neurology , vol.62 , pp. 1115-1119
    • Berkovic, S.F.1    Izzillo, P.2    McMahon, J.M.3
  • 43
    • 33644557533 scopus 로고    scopus 로고
    • Familial mesial temporal lobe epilepsy
    • Gilman S, ed. San Diego: MedLink Corporation. Available at: Accessed September 15, 2004
    • Kobayashi E, Andermann F, Andermann E. Familial mesial temporal lobe epilepsy. In: Gilman S, ed. MedLink neurology. San Diego: MedLink Corporation. Available at: www.medlink.com. Accessed September 15, 2004.
    • MedLink Neurology
    • Kobayashi, E.1    Andermann, F.2    Andermann, E.3
  • 44
    • 0001836892 scopus 로고
    • Familial temporal lobe epilepsy: A new syndrome with adolescent/adult onset and a benign course
    • Wolf P, ed. London: John Libbey & Company Ltd.
    • Berkovic SF, Howell RA, Hopper JL. Familial temporal lobe epilepsy: a new syndrome with adolescent/adult onset and a benign course. In: Wolf P, ed. Epileptic seizures and syndromes. London: John Libbey & Company Ltd., 1994:257-63.
    • (1994) Epileptic Seizures and Syndromes , pp. 257-263
    • Berkovic, S.F.1    Howell, R.A.2    Hopper, J.L.3
  • 45
    • 0029834204 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy: A common disorder identified in twins
    • Berkovic SF, McIntosh A, Howell RA, et al. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 1996;40:227-35.
    • (1996) Ann Neurol , vol.40 , pp. 227-235
    • Berkovic, S.F.1    McIntosh, A.2    Howell, R.A.3
  • 46
    • 0031911013 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy: A clinically heterogeneous syndrome
    • Cendes F, Lopes-Cendes I, Andermann E, et al. Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 1998;50:554-557.
    • (1998) Neurology , vol.50 , pp. 554-557
    • Cendes, F.1    Lopes-Cendes, I.2    Andermann, E.3
  • 47
    • 0008566984 scopus 로고    scopus 로고
    • Déja-vu is the characteristic aura in benign familial temporal lobe epilepsy
    • Andermann E, Abou-Khalil B, Berkovic S, et al. Déja-vu is the characteristic aura in benign familial temporal lobe epilepsy. Epilepsia 1997;38(Suppl 8):200.
    • (1997) Epilepsia , vol.38 , Issue.SUPPL. 8 , pp. 200
    • Andermann, E.1    Abou-Khalil, B.2    Berkovic, S.3
  • 48
    • 0037432054 scopus 로고    scopus 로고
    • Hippocampal atrophy and T2 weighted signal changes in familial mesial temporal lobe epilepsy
    • Kobayashi E, D'Agostino MD, Lopes-Cendes I, et al. Hippocampal atrophy and T2 weighted signal changes in familial mesial temporal lobe epilepsy. Neurology 2003;60:405-9.
    • (2003) Neurology , vol.60 , pp. 405-409
    • Kobayashi, E.1    D'Agostino, M.D.2    Lopes-Cendes, I.3
  • 49
    • 0043073041 scopus 로고    scopus 로고
    • Outcome of surgical treatment in patients with familial mesial temporal lobe epilepsy
    • Kobayashi E, D'Agostino MD, Lopes-Cendes I, et al. Outcome of surgical treatment in patients with familial mesial temporal lobe epilepsy. Epilepsia 2003;44:1079-1083.
    • (2003) Epilepsia , vol.44 , pp. 1079-1083
    • Kobayashi, E.1    D'Agostino, M.D.2    Lopes-Cendes, I.3
  • 50
    • 0027431990 scopus 로고
    • Temporal lobe epilepsy after prolonged febrile convulsions: Excellent outcome after surgical treatment
    • Abou-Khalil B, Andermann E, Andermann F, et al. Temporal lobe epilepsy after prolonged febrile convulsions: excellent outcome after surgical treatment. Epilepsia 1993;34:878-883.
    • (1993) Epilepsia , vol.34 , pp. 878-883
    • Abou-Khalil, B.1    Andermann, E.2    Andermann, F.3
  • 51
    • 0036894830 scopus 로고    scopus 로고
    • Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic first-degree relatives of patients with familial mesial temporal lobe epilepsy
    • Kobayashi E, Li LM, Lopes-Cendes I, et al. Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic first-degree relatives of patients with familial mesial temporal lobe epilepsy. Arch Neurol 2002;59:1891-4.
    • (2002) Arch Neurol , vol.59 , pp. 1891-1894
    • Kobayashi, E.1    Li, L.M.2    Lopes-Cendes, I.3
  • 52
    • 7944233055 scopus 로고    scopus 로고
    • Genetic association studies in epilepsy: "The truth is out there."
    • Tan NC, Mulley JC, Berkovic SF. Genetic association studies in epilepsy: "the truth is out there." Epilepsia 2004;45:1429-42.
    • (2004) Epilepsia , vol.45 , pp. 1429-1442
    • Tan, N.C.1    Mulley, J.C.2    Berkovic, S.F.3
  • 53
    • 0036340412 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in familial temporal lobe epilepsy
    • Santos NF, Sousa SC, Kobayashi E, et al. Clinical and genetic heterogeneity in familial temporal lobe epilepsy. Epilepsia 2002;43(Suppl 5):136.
    • (2002) Epilepsia , vol.43 , Issue.SUPPL. 5 , pp. 136
    • Santos, N.F.1    Sousa, S.C.2    Kobayashi, E.3
  • 54
    • 33644520686 scopus 로고    scopus 로고
    • Absence of LGI1 mutations in familial mesial temporal lobe epilepsy with or without auditory features and in sporadic TLE with auditory features
    • Badhwar A, Racacho L, D'Agostino D, et al. Absence of LGI1 mutations in familial mesial temporal lobe epilepsy with or without auditory features and in sporadic TLE with auditory features. Neurology 2004;62(Suppl 5):A252.
    • (2004) Neurology , vol.62 , Issue.SUPPL. 5
    • Badhwar, A.1    Racacho, L.2    D'Agostino, D.3
  • 55
    • 0345003726 scopus 로고    scopus 로고
    • Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q
    • 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;45:182-188.
    • (1999) Ann Neurol , vol.45 , pp. 182-188
    • Poza, J.J.1    Saenz, A.2    Martinez-Gil, A.3
  • 56
    • 0034643891 scopus 로고    scopus 로고
    • Autosomal dominant partial epilepsy with auditory features: Defining the phenotype
    • Winawer MR, Ottman R, Hauser WA, et al. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology 2000;54:2173-6.
    • (2000) Neurology , vol.54 , pp. 2173-2176
    • Winawer, M.R.1    Ottman, R.2    Hauser, W.A.3
  • 57
    • 0036192726 scopus 로고    scopus 로고
    • Four new families with autosomal dominant partial epilepsy with auditory features: Clinical description and linkage to chromosome 10q24
    • Winawer MR, Martinelli Boneschi F, et al. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia 2002;43:60-7.
    • (2002) Epilepsia , vol.43 , pp. 60-67
    • Winawer, M.R.1    Martinelli Boneschi, F.2
  • 58
    • 0036712759 scopus 로고    scopus 로고
    • LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
    • Gu W, Brodtkorb E, Steinlein OK. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol 2002;52:364-7.
    • (2002) Ann Neurol , vol.52 , pp. 364-367
    • Gu, W.1    Brodtkorb, E.2    Steinlein, O.K.3
  • 59
    • 0036210771 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24
    • Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia 2002;43:228-35.
    • (2002) Epilepsia , vol.43 , pp. 228-235
    • Brodtkorb, E.1    Gu, W.2    Nakken, K.O.3    Fischer, C.4    Steinlein, O.K.5
  • 60
    • 0345303660 scopus 로고    scopus 로고
    • MRI abnormalities in familial temporal lobe epilepsy with auditory auras and linkage to chromosome 10q
    • Kobayashi E, Santos NF, Torres FR, et al. MRI abnormalities in familial temporal lobe epilepsy with auditory auras and linkage to chromosome 10q. Arch Neurol 2003;60:1546-1551.
    • (2003) Arch Neurol , vol.60 , pp. 1546-1551
    • Kobayashi, E.1    Santos, N.F.2    Torres, F.R.3
  • 61
    • 0142136078 scopus 로고    scopus 로고
    • Autosomal dominant lateral temporal epilepsy: Clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families
    • Michelucci R, Poza JJ, Sofia V, et al. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia 2003;44:1289-1297.
    • (2003) Epilepsia , vol.44 , pp. 1289-1297
    • Michelucci, R.1    Poza, J.J.2    Sofia, V.3
  • 62
    • 0031902035 scopus 로고    scopus 로고
    • Leucine-rich repeat glycoproteins of the extracellular matrix
    • Hocking AM, Shinomura T, McQuillan DJ. Leucine-rich repeat glycoproteins of the extracellular matrix. Matrix Biol 1998;1:1-19.
    • (1998) Matrix Biol , vol.1 , pp. 1-19
    • Hocking, A.M.1    Shinomura, T.2    McQuillan, D.J.3
  • 63
    • 0032481137 scopus 로고    scopus 로고
    • A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors
    • Chernova OB, Somerville RP, Cowell JK. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene 1998;17:2873-2881.
    • (1998) Oncogene , vol.17 , pp. 2873-2881
    • Chernova, O.B.1    Somerville, R.P.2    Cowell, J.K.3
  • 64
    • 1842580632 scopus 로고    scopus 로고
    • LGI1 mutations in autosomal dominant partial epilepsy with auditory features
    • Ottman R, Winawer MR, Kalachikov S, et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2004;62:1120-1126.
    • (2004) Neurology , vol.62 , pp. 1120-1126
    • Ottman, R.1    Winawer, M.R.2    Kalachikov, S.3
  • 65
    • 11144355359 scopus 로고    scopus 로고
    • LGI1 mutations in temporal lobe epilepsies
    • Berkovic SF, Izzillo P, McMahon JM, et al. LGI1 mutations in temporal lobe epilepsies. Neurology 2004;62:1115-9.
    • (2004) Neurology , vol.62 , pp. 1115-1119
    • Berkovic, S.F.1    Izzillo, P.2    McMahon, J.M.3
  • 66
    • 2942588984 scopus 로고    scopus 로고
    • Idiopathic partial epilepsy with auditory features (IPEAF): A clinical and genetic study of 53 sporadic cases
    • Bisulli F, Tinuper P, Avoni P, et al. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 2004;127(Pt 6):1343-52.
    • (2004) Brain , vol.127 , Issue.PART 6 , pp. 1343-1352
    • Bisulli, F.1    Tinuper, P.2    Avoni, P.3
  • 67
    • 0031767813 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
    • Scheffer IE, Phillips HA, O'Brien CE, et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998;44:890-9.
    • (1998) Ann Neurol , vol.44 , pp. 890-899
    • Scheffer, I.E.1    Phillips, H.A.2    O'Brien, C.E.3
  • 68
    • 0033362028 scopus 로고    scopus 로고
    • Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
    • Xiong L, Labuda M, Li DS, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999;65:1698-710.
    • (1999) Am J Hum Genet , vol.65 , pp. 1698-1710
    • Xiong, L.1    Labuda, M.2    Li, D.S.3
  • 69
    • 4544255725 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12
    • Berkovic SF, Serratosa JM, Phillips HA, et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 2004;45:1054-60.
    • (2004) Epilepsia , vol.45 , pp. 1054-1060
    • Berkovic, S.F.1    Serratosa, J.M.2    Phillips, H.A.3
  • 70
    • 0142104303 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci in a Dutch family: Clinical characteristics and confirmation of linkage to chromosome 22q
    • Callenbach PM, van den Maagdenberg AM, Hottenga JJ, et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 2003;44:1298-305.
    • (2003) Epilepsia , vol.44 , pp. 1298-1305
    • Callenbach, P.M.1    Van Den Maagdenberg, A.M.2    Hottenga, J.J.3
  • 71
    • 0027280794 scopus 로고
    • Benign focal epilepsies of childhood
    • Holmes GL. Benign focal epilepsies of childhood. Epilepsia 1993;34(Suppl 3):S49-61.
    • (1993) Epilepsia , vol.34 , Issue.SUPPL. 3
    • Holmes, G.L.1
  • 72
    • 18444418872 scopus 로고    scopus 로고
    • The benign occipital epilepsies of childhood: An overview of the idiopathic syndromes and of the relationship to migraine
    • Andermann F, Zifkin B. The benign occipital epilepsies of childhood: an overview of the idiopathic syndromes and of the relationship to migraine. Epilepsia 1998;39(Suppl 4):S9-23.
    • (1998) Epilepsia , vol.39 , Issue.SUPPL. 4
    • Andermann, F.1    Zifkin, B.2
  • 73
    • 0023273962 scopus 로고
    • Benign occipital epilepsy: A family study
    • Kuzniecky R, Rosenblatt B. Benign occipital epilepsy: a family study. Epilepsia 1987;28:346-50.
    • (1987) Epilepsia , vol.28 , pp. 346-350
    • Kuzniecky, R.1    Rosenblatt, B.2
  • 74
    • 0036024053 scopus 로고    scopus 로고
    • Benign focal epilepsies in infancy, childhood and adolescence
    • Fejerman N. Benign focal epilepsies in infancy, childhood and adolescence. Rev Neurol 2002;34:7-18.
    • (2002) Rev Neurol , vol.34 , pp. 7-18
    • Fejerman, N.1
  • 75
    • 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
  • 76
    • 0026677162 scopus 로고
    • Contribution to the genetics of rolandic epilepsy: Waking and sleep EEGs in siblings
    • Degen R, Degen HE. Contribution to the genetics of rolandic epilepsy: waking and sleep EEGs in siblings. Epilepsy Res Suppl 1992;6:49-52.
    • (1992) Epilepsy Res Suppl , vol.6 , pp. 49-52
    • Degen, R.1    Degen, H.E.2
  • 77
    • 3042801131 scopus 로고    scopus 로고
    • Is benign rolandic epilepsy genetically determined?
    • Vadlamudi L, Harvey AS, Connellan MM, et al. Is benign rolandic epilepsy genetically determined? Ann Neurol 2004;56:129-32.
    • (2004) Ann Neurol , vol.56 , pp. 129-132
    • Vadlamudi, L.1    Harvey, A.S.2    Connellan, M.M.3
  • 78
    • 0030854063 scopus 로고    scopus 로고
    • Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions
    • Neubauer BA, Moises HW, Lassker U, et al. Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions. Epilepsia 1997;38:782-7.
    • (1997) Epilepsia , vol.38 , pp. 782-787
    • Neubauer, B.A.1    Moises, H.W.2    Lassker, U.3
  • 79
    • 0031649494 scopus 로고    scopus 로고
    • Centrotemporal spikes in families with rolandic epilepsy: Linkage to chromosome 15q14
    • 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
  • 80
    • 0035013319 scopus 로고    scopus 로고
    • Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy
    • Steinlein OK, Neubauer BA, Sander T, et al. Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy. Epilepsy Res 2001;44:191-5.
    • (2001) Epilepsy Res , vol.44 , pp. 191-195
    • Steinlein, O.K.1    Neubauer, B.A.2    Sander, T.3
  • 81
    • 0029084895 scopus 로고
    • Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation
    • Scheffer IE, Jones L, Pozzebon M, et al. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 1995;38:633-42.
    • (1995) Ann Neurol , vol.38 , pp. 633-642
    • Scheffer, I.E.1    Jones, L.2    Pozzebon, M.3
  • 82
    • 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
    • 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
  • 83
    • 0036260761 scopus 로고    scopus 로고
    • Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15
    • Kinton L, Johnson MR, Smith SJ, et al. Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15. Ann Neurol 2002;51:740-9.
    • (2002) Ann Neurol , vol.51 , pp. 740-749
    • Kinton, L.1    Johnson, M.R.2    Smith, S.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.