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Volumn 36, Issue 3, 2005, Pages 151-160

Ring Chromosome 20 with Nonconvulsive Status Epilepticus: Electroclinical Correlation of a Rare Epileptic Syndrome

Author keywords

Genetic Epileptic Syndrome; Nonconvulsive Status Epilepticus; Ring Chromosome 20; Video EEG Telemetry

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; PHENOBARBITAL; PHENYTOIN; TOPIRAMATE; VALPROIC ACID;

EID: 23844457938     PISSN: 15500594     EISSN: None     Source Type: Journal    
DOI: 10.1177/155005940503600305     Document Type: Article
Times cited : (10)

References (53)
  • 1
    • 2342639017 scopus 로고    scopus 로고
    • Genes and mutations in human idiopathic epilepsy
    • Steinlein OK. Genes and mutations in human idiopathic epilepsy. Brain Dev 2004; 26(4):213-218.
    • (2004) Brain Dev , vol.26 , Issue.4 , pp. 213-218
    • Steinlein, O.K.1
  • 2
    • 0344012023 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: Expansion of the functional and mutation spectrum
    • Epub 2003 Oct 08.
    • Singh NA Westenskow P Charlier C Pappas C Leslie J Dillon J, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: Expansion of the functional and mutation spectrum. Brain 2003; 126(Pt 12): 2726-2737. Epub 2003 Oct 08.
    • (2003) Brain , vol.126 , pp. 2726-2737
    • Singh, N.A.1    Westenskow, P.2    Charlier, C.3    Pappas, C.4    Leslie, J.5    Dillon, J.6
  • 3
    • 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 Wallace RH Phillips HA Sutherland GR, 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: 201-203.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6
  • 6
    • 0015444347 scopus 로고
    • Ring F chromosome mosaicism (46, XY, 20r-46, XY) in an epileptic child without apparent haematological disease
    • Faed M Morton HG Robertson J. Ring F chromosome mosaicism (46, XY, 20r-46, XY) in an epileptic child without apparent haematological disease. J Med Genet 1972; 9: 470-473.
    • (1972) J Med Genet , vol.9 , pp. 470-473
    • Faed, M.1    Morton, H.G.2    Robertson, J.3
  • 7
    • 0015358338 scopus 로고
    • Chromosome F en anneau (46,XY, Fr) chez un garçon multi-malformé
    • de Grouchy J Plachot M Sebaoun M Bouchard R. Chromosome F en anneau (46,XY, Fr) chez un garçon multi-malformé. Ann Génét 1972; 15: 121-126.
    • (1972) Ann Génét , vol.15 , pp. 121-126
    • de Grouchy, J.1    Plachot, M.2    Sebaoun, M.3    Bouchard, R.4
  • 8
    • 0015273062 scopus 로고
    • Ring formation of chromosomes Nos. 19 and 20
    • Uchida IA Lin CC. Ring formation of chromosomes Nos. 19 and 20. Cytogenetics 1972; 11: 208-215.
    • (1972) Cytogenetics , vol.11 , pp. 208-215
    • Uchida, I.A.1    Lin, C.C.2
  • 9
    • 0035949744 scopus 로고    scopus 로고
    • Ring chromosome 20 epilepsy syndrome in children: Electroclinical features
    • Comment in: Neurology 2002;58(6): 987; author reply 987.
    • Augustijn PB Parra J Wouters CH Joosten P Lindhout D van Emde Boas W. Ring chromosome 20 epilepsy syndrome in children: Electroclinical features. Neurology. 2001; 57(6): 1108-1111 Comment in: Neurology 2002;58(6): 987; author reply 987.
    • (2001) Neurology. , vol.57 , Issue.6 , pp. 1108-1111
    • Augustijn, P.B.1    Parra, J.2    Wouters, C.H.3    Joosten, P.4    Lindhout, D.5    van Emde Boas, W.6
  • 10
    • 0031684193 scopus 로고    scopus 로고
    • Chromosome 20 ring: A chromosomal disorder associated with a particular electroclinical pattern
    • Canevini MP Sgro V Zuffardi O Canger R Carrozzo R Rossi E, et al. Chromosome 20 ring: A chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 1998; 39(9):942-951.
    • (1998) Epilepsia , vol.39 , Issue.9 , pp. 942-951
    • Canevini, M.P.1    Sgro, V.2    Zuffardi, O.3    Canger, R.4    Carrozzo, R.5    Rossi, E.6
  • 11
    • 0030911459 scopus 로고    scopus 로고
    • Ring chromosome 20 and nonconvuisive status epilepticus, a new epileptic syndrome
    • Inoue Y Fujiwara T Matsuda K, et al. Ring chromosome 20 and nonconvuisive status epilepticus, a new epileptic syndrome. Brain 1997; 120: 939-953.
    • (1997) Brain , vol.120 , pp. 939-953
    • Inoue, Y.1    Fujiwara, T.2    Matsuda, K.3
  • 12
    • 0017852771 scopus 로고
    • Prolonged partial complex status epilepticus: EEG and behavioural observations
    • Engel J Jr Ludwig B Fetell M. Prolonged partial complex status epilepticus: EEG and behavioural observations. Neurology 1978; 28: 863-869.
    • (1978) Neurology , vol.28 , pp. 863-869
    • Engel, J.1    Ludwig, B.2    Fetell, M.3
  • 13
    • 0030056056 scopus 로고    scopus 로고
    • Non-convulsive status epilepticus: Causes, treatment, and outcome in 65 patients
    • Scholtes FB Renier WO Meinardi H. Non-convulsive status epilepticus: Causes, treatment, and outcome in 65 patients. J Neurol Neurosurg Psychiatry 1996; 61(1):93-95.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , Issue.1 , pp. 93-95
    • Scholtes, F.B.1    Renier, W.O.2    Meinardi, H.3
  • 15
    • 0020652351 scopus 로고
    • Classification of status epilepticus
    • Gastaut H. Classification of status epilepticus. Adv Neurol 1983; 34: 15-35.
    • (1983) Adv Neurol , vol.34 , pp. 15-35
    • Gastaut, H.1
  • 16
    • 0032815345 scopus 로고    scopus 로고
    • Epidemiology and evidence for morbidity of non-convulsive status epilepticus
    • discussion 353.
    • Krumholz A. Epidemiology and evidence for morbidity of non-convulsive status epilepticus. J Clin Neurophysiol 1999; 16(4): 314-322; discussion 353.
    • (1999) J Clin Neurophysiol , vol.16 , Issue.4 , pp. 314-322
    • Krumholz, A.1
  • 18
    • 0026301521 scopus 로고
    • Sleep and prolonged epileptic activity (status epilepticus)
    • Froscher W. Sleep and prolonged epileptic activity (status epilepticus). Epilepsy Res Suppl 1991; 2: 165-176.
    • (1991) Epilepsy Res Suppl , vol.2 , pp. 165-176
    • Froscher, W.1
  • 20
    • 0017895890 scopus 로고
    • Absence status in the adult: New results including computerized transverse axial tomography
    • van Gall M Scollo-Lavizzari G Becker H. Absence status in the adult: New results including computerized transverse axial tomography. Eur Neurol 1978; 17(3):121-128.
    • (1978) Eur Neurol , vol.17 , Issue.3 , pp. 121-128
    • van Gall, M.1    Scollo-Lavizzari, G.2    Becker, H.3
  • 21
    • 0018392570 scopus 로고
    • Absence status (petit mal status) with focal characteristics
    • Niedermeyer E Fineyre F Riley T Uematsu S. Absence status (petit mal status) with focal characteristics. Arch Neurol 1979; 36(7):417-421.
    • (1979) Arch Neurol , vol.36 , Issue.7 , pp. 417-421
    • Niedermeyer, E.1    Fineyre, F.2    Riley, T.3    Uematsu, S.4
  • 22
    • 0026801990 scopus 로고
    • Nonconvuisive status epilepticus in adults: Thirty-two consecutive patients from a general hospital population
    • Tomson T Lindbom U Nilsson BY. Nonconvuisive status epilepticus in adults: Thirty-two consecutive patients from a general hospital population. Epilepsia. 1992; 33(5):829-835.
    • (1992) Epilepsia. , vol.33 , Issue.5 , pp. 829-835
    • Tomson, T.1    Lindbom, U.2    Nilsson, B.Y.3
  • 24
    • 0022324418 scopus 로고
    • A case of ring 20 chromosome with cardiac and renal anomalies
    • Burnell RH Stern LM Sutherland GR. A case of ring 20 chromosome with cardiac and renal anomalies. Aust Paediatr J 1985; 21: 285-286.
    • (1985) Aust Paediatr J , vol.21 , pp. 285-286
    • Burnell, R.H.1    Stern, L.M.2    Sutherland, G.R.3
  • 25
    • 0017882988 scopus 로고
    • A cytogenetic survey of an institution for the mentally retarded. 1. Chromosome abnormalities
    • Jacobs PA Matsuura JS Mayer M Newlands IM. A cytogenetic survey of an institution for the mentally retarded. 1. Chromosome abnormalities. Clin Genet 1978; 13: 37-60.
    • (1978) Clin Genet , vol.13 , pp. 37-60
    • Jacobs, P.A.1    Matsuura, J.S.2    Mayer, M.3    Newlands, I.M.4
  • 26
    • 0018399805 scopus 로고
    • Ring 20 chromosome in a child with seizures, minor anomalies, and retardation
    • Stewart JM Cavanagh N Hughes DT. Ring 20 chromosome in a child with seizures, minor anomalies, and retardation. Arch Dis Child 1979; 54: 477-479.
    • (1979) Arch Dis Child , vol.54 , pp. 477-479
    • Stewart, J.M.1    Cavanagh, N.2    Hughes, D.T.3
  • 28
    • 4944247496 scopus 로고    scopus 로고
    • Landau-Kleffner syndrome, electrical status epilepticus in slow wave sleep, and language regression in children
    • McVicar KA Shinnar S. Landau-Kleffner syndrome, electrical status epilepticus in slow wave sleep, and language regression in children. Ment Retard Dev Disabil Res Rev. 2004; 10(2):144-149.
    • (2004) Ment Retard Dev Disabil Res Rev. , vol.10 , Issue.2 , pp. 144-149
    • McVicar, K.A.1    Shinnar, S.2
  • 29
    • 0942277244 scopus 로고    scopus 로고
    • Epileptic encephalopathy of late childhood: Landau-Kleffner syndrome and the syndrome of continuous spikes and waves during slow-wave sleep
    • Smith MC Hoeppner TJ. Epileptic encephalopathy of late childhood: Landau-Kleffner syndrome and the syndrome of continuous spikes and waves during slow-wave sleep. J Clin Neurophysiol 2003; 20(6):462-472.
    • (2003) J Clin Neurophysiol , vol.20 , Issue.6 , pp. 462-472
    • Smith, M.C.1    Hoeppner, T.J.2
  • 31
    • 0029127998 scopus 로고
    • Acquired epileptiform opercular syndrome: A second case report, review of the literature, and comparison to the Landau-Kleffner syndrome
    • Shafrir Y Prensky AL. Acquired epileptiform opercular syndrome: A second case report, review of the literature, and comparison to the Landau-Kleffner syndrome. Epilepsia 1995; 36(10):1050-1057.
    • (1995) Epilepsia , vol.36 , Issue.10 , pp. 1050-1057
    • Shafrir, Y.1    Prensky, A.L.2
  • 32
    • 0032801435 scopus 로고    scopus 로고
    • Animal models of nonconvulsive status epilepticus
    • discussion 353.
    • Hosford DA. Animal models of nonconvulsive status epilepticus. J Clin Neurophysiol 1999; 16(4): 306-313; discussion 353.
    • (1999) J Clin Neurophysiol , vol.16 , Issue.4 , pp. 306-313
    • Hosford, D.A.1
  • 33
    • 0036896623 scopus 로고    scopus 로고
    • Lack of neuronal damage in atypical absence status epilepticus
    • Shirasaka Y. Lack of neuronal damage in atypical absence status epilepticus. Epilepsia 2002; 43(12):1498-1501.
    • (2002) Epilepsia , vol.43 , Issue.12 , pp. 1498-1501
    • Shirasaka, Y.1
  • 35
    • 0035663993 scopus 로고    scopus 로고
    • Diagnosis and treatment of nonconvulsive status epilepticus
    • Walker MC. Diagnosis and treatment of nonconvulsive status epilepticus. CNS Drugs 2001; 15(12):931-939.
    • (2001) CNS Drugs , vol.15 , Issue.12 , pp. 931-939
    • Walker, M.C.1
  • 36
  • 37
    • 0033287565 scopus 로고    scopus 로고
    • Non-convulsive status in the ring chromosome 20 syndrome: A video illustration of 3 cases
    • Petit J Roubertie A Inoue Y Genton P. Non-convulsive status in the ring chromosome 20 syndrome: A video illustration of 3 cases. Epileptic Disord 1999; 1(4):237-241.
    • (1999) Epileptic Disord , vol.1 , Issue.4 , pp. 237-241
    • Petit, J.1    Roubertie, A.2    Inoue, Y.3    Genton, P.4
  • 38
    • 0036823469 scopus 로고    scopus 로고
    • Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: Case report and review of the literature
    • Chawla J Sucholeiki R Jones C Silver K. Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: Case report and review of the literature. J Child Neurol 2002; 17(10):778-780.
    • (2002) J Child Neurol , vol.17 , Issue.10 , pp. 778-780
    • Chawla, J.1    Sucholeiki, R.2    Jones, C.3    Silver, K.4
  • 39
    • 3242703069 scopus 로고    scopus 로고
    • PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy
    • Biraben A Semah F Ribeiro M-J, et al. PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. Neurology 2004; 63: 73-77.
    • (2004) Neurology , vol.63 , pp. 73-77
    • Biraben, A.1    Semah, F.2    Ribeiro, M.-J.3
  • 40
    • 0014428691 scopus 로고
    • Ring-chromosome formation
    • Gray JE. Ring-chromosome formation. Lancet 1968; 2(7565): 459.
    • (1968) Lancet , vol.2 , Issue.7565 , pp. 459
    • Gray, J.E.1
  • 41
    • 0032911049 scopus 로고    scopus 로고
    • Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions
    • Biervert C Steinlein OK. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet 1999; 104(3):234-240.
    • (1999) Hum Genet , vol.104 , Issue.3 , pp. 234-240
    • Biervert, C.1    Steinlein, O.K.2
  • 43
    • 0029045967 scopus 로고
    • Localization of a gene for autosornal dominant nocturnal frontal lobe epilepsy to chromosome 20ql3.2 [letter] [see comments]
    • Comment in: Nat Genet 1995; 10:4-6.
    • Phillips HA Scheffer IE Berkovic SF Hollway GE Sutherland GR Mulley JC. Localization of a gene for autosornal dominant nocturnal frontal lobe epilepsy to chromosome 20ql3.2 [letter] [see comments]. Nat Genet 1995; 10: 117-118. Comment in: Nat Genet 1995; 10:4-6.
    • (1995) Nat Genet , vol.10 , pp. 117-118
    • Phillips, H.A.1    Scheffer, I.E.2    Berkovic, S.F.3    Hollway, G.E.4    Sutherland, G.R.5    Mulley, J.C.6
  • 48
    • 0025914051 scopus 로고
    • Inherited ring chromosomes: An analysis of published cases
    • Kosztolanyi G Mehes K Hook EB. Inherited ring chromosomes: An analysis of published cases. Hum Genet 1991; 87(3):320-324.
    • (1991) Hum Genet , vol.87 , Issue.3 , pp. 320-324
    • Kosztolanyi, G.1    Mehes, K.2    Hook, E.B.3
  • 49
    • 0032506014 scopus 로고    scopus 로고
    • Leading role of thalamic over cortical neurons during postinhibitory rebound excitation
    • Grenier F Timofeev I Steriade M. Leading role of thalamic over cortical neurons during postinhibitory rebound excitation. Proc Natl Acad Sci USA. 1998; 95(23):13929-13934.
    • (1998) Proc Natl Acad Sci USA. , vol.95 , Issue.23 , pp. 13929-13934
    • Grenier, F.1    Timofeev, I.2    Steriade, M.3
  • 50
    • 0042916500 scopus 로고    scopus 로고
    • Ring chromosome 14 with localization-related epilepsy: Three cases
    • Morimoto M Usuku T Tanaka M Otabe O Nishimura A Ochi M, et al. Ring chromosome 14 with localization-related epilepsy: Three cases. Epilepsia 2003; 44(9):1245-1249.
    • (2003) Epilepsia , vol.44 , Issue.9 , pp. 1245-1249
    • Morimoto, M.1    Usuku, T.2    Tanaka, M.3    Otabe, O.4    Nishimura, A.5    Ochi, M.6
  • 51
    • 0032958516 scopus 로고    scopus 로고
    • Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
    • Ono J Nishiike K Imai K Otani K Okada S. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 1999; 20(1):70-72.
    • (1999) Pediatr Neurol , vol.20 , Issue.1 , pp. 70-72
    • Ono, J.1    Nishiike, K.2    Imai, K.3    Otani, K.4    Okada, S.5
  • 52
    • 4043126851 scopus 로고    scopus 로고
    • Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19
    • Shahwan A Green AJ Carey A Stallings RL O'Flaherty OC King MD. Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19. Epilepsia 2004; 45(8):997-1000.
    • (2004) Epilepsia , vol.45 , Issue.8 , pp. 997-1000
    • Shahwan, A.1    Green, A.J.2    Carey, A.3    Stallings, R.L.4    O'Flaherty, O.C.5    King, M.D.6
  • 53
    • 0026664906 scopus 로고
    • Ring 14 chromosome with complex partial seizures: A case report
    • Shirasaka Y Ito M Okuno T Fujii T Nozaki K Mikawa H. Ring 14 chromosome with complex partial seizures: A case report. Brain Dev 1992; 14(4):257-260.
    • (1992) Brain Dev , vol.14 , Issue.4 , pp. 257-260
    • Shirasaka, Y.1    Ito, M.2    Okuno, T.3    Fujii, T.4    Nozaki, K.5    Mikawa, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.