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Volumn 18, Issue 3, 1996, Pages 207-211

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

Author keywords

COX partial deficit; Epilepsia partialis continua; Leigh syndrome

Indexed keywords

CYTOCHROME C OXIDASE;

EID: 0030152946     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/0387-7604(95)00126-3     Document Type: Article
Times cited : (29)

References (25)
  • 2
    • 0001160772 scopus 로고
    • Lactic acidemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D. eds. New York: MacGraw Hill
    • 2. Robinson BH. Lactic acidemia: In: Scriver CR, Beaudet AL, Sly WS, Valle D. eds. The metabolic basis of metabolic diseases. New York: MacGraw Hill, 1989: 869-88.
    • (1989) The Metabolic Basis of Metabolic Diseases , pp. 869-888
    • Robinson, B.H.1
  • 3
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • 3. Santorelli FM, Shanske S, Macaya A, DeVivo DC, Di Mauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993; 34: 827-34.
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3    DeVivo, D.C.4    Di Mauro, S.5
  • 5
    • 0021711191 scopus 로고
    • Cortical subacute necrotizing encephalomyelopathy. A study of two patients with mitochondrial dysfunction
    • 5. Egger J, Pincott JR, Wilson J, Erdohazi M. Cortical subacute necrotizing encephalomyelopathy. A study of two patients with mitochondrial dysfunction. Neuropediatrics 1984; 15: 150-8.
    • (1984) Neuropediatrics , vol.15 , pp. 150-158
    • Egger, J.1    Pincott, J.R.2    Wilson, J.3    Erdohazi, M.4
  • 6
    • 0023100360 scopus 로고
    • Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease
    • 6. Robinson BH, De Meirleir L, Glerum M, Sherwood G, Becker L. Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease. J Pediatr 1987; 110: 216-22.
    • (1987) J Pediatr , vol.110 , pp. 216-222
    • Robinson, B.H.1    De Meirleir, L.2    Glerum, M.3    Sherwood, G.4    Becker, L.5
  • 7
    • 0025021581 scopus 로고
    • Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome
    • 7. Fujii T, Ito M, Okuno T, Mutoh K, Nishikomori R, Mikawa H. Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome. J Pediatr 1990; 116: 84-7.
    • (1990) J Pediatr , vol.116 , pp. 84-87
    • Fujii, T.1    Ito, M.2    Okuno, T.3    Mutoh, K.4    Nishikomori, R.5    Mikawa, H.6
  • 8
    • 0025831999 scopus 로고
    • Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations
    • 8. Van Coster R, Lombes A, DeVivo DC, et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci 1991; 104: 97-111.
    • (1991) J Neurol Sci , vol.104 , pp. 97-111
    • Van Coster, R.1    Lombes, A.2    DeVivo, D.C.3
  • 9
    • 0026628230 scopus 로고
    • Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency
    • 9. Westarp ME, Holzgraefe M, Gallenkamp Thomas R, Bechinger D. Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency. Eur Neurol 1992; 32: 206-11.
    • (1992) Eur Neurol , vol.32 , pp. 206-211
    • Westarp, M.E.1    Holzgraefe, M.2    Gallenkamp Thomas, R.3    Bechinger, D.4
  • 10
    • 0026539971 scopus 로고
    • Variable presentation of cytochrome c oxidase deficiency
    • 10. Keppler K, Cunniff C. Variable presentation of cytochrome c oxidase deficiency. Am J Dis Child 1992; 146: 1349-52.
    • (1992) Am J Dis Child , vol.146 , pp. 1349-1352
    • Keppler, K.1    Cunniff, C.2
  • 12
    • 0027197011 scopus 로고
    • A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome
    • 12. Yoshinaga H, Ogino T, Ohtahara S, Sakuta R, Nonaka I, Horai S. A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome. J Child Neurol 1993; 8: 129-33.
    • (1993) J Child Neurol , vol.8 , pp. 129-133
    • Yoshinaga, H.1    Ogino, T.2    Ohtahara, S.3    Sakuta, R.4    Nonaka, I.5    Horai, S.6
  • 13
    • 0027819195 scopus 로고
    • Epilessia parziale continua. Acidosi lattica congenita e trattamento con dicloroacetato
    • 13. Colamaria V, Franco A, Perez Jimenez A, et al. Epilessia parziale continua. acidosi lattica congenita e trattamento con dicloroacetato. Boll Lega Ital Epil 1993; 84: 113-5.
    • (1993) Boll Lega Ital Epil , vol.84 , pp. 113-115
    • Colamaria, V.1    Franco, A.2    Perez Jimenez, A.3
  • 14
    • 0022497643 scopus 로고
    • Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease)
    • 14. Koch TK, Melvin HC, Hutchinson HT, Berg BO. Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease). Ann Neurol 1986; 19: 605-7.
    • (1986) Ann Neurol , vol.19 , pp. 605-607
    • Koch, T.K.1    Melvin, H.C.2    Hutchinson, H.T.3    Berg, B.O.4
  • 15
    • 0025228482 scopus 로고
    • MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): Correlation with biochemical defect
    • 15. Medina L, Chi TL, DeVivo DC, Hilal SK. MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJR 1990; 11: 379-84.
    • (1990) AJR , vol.11 , pp. 379-384
    • Medina, L.1    Chi, T.L.2    DeVivo, D.C.3    Hilal, S.K.4
  • 16
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • 16. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951; 14: 216-21.
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 17
    • 0002956907 scopus 로고
    • Kojewnikow's syndrome (epilepsia partialis continua) in children
    • Roger J, Bureau M, Dravet Ch., Dreifuss FE, Perret A, Wolf P, eds. London: John Libbey & Co.
    • 17. Bancaud J. Kojewnikow's syndrome (epilepsia partialis continua) in children. In: Roger J, Bureau M, Dravet Ch., Dreifuss FE, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood, and adolescence. 2nd edn. London: John Libbey & Co., 1992: 363-79.
    • (1992) Epileptic Syndromes in Infancy, Childhood, and Adolescence. 2nd Edn. , pp. 363-379
    • Bancaud, J.1
  • 18
    • 0012077107 scopus 로고
    • Epilepsy in childhood mitochondrial encephalomyopathies
    • Wolf P, Dam M, Janz D, Dreifuss FE, eds. New York: Raven Press
    • 18. Chevrie J-J, Aicardi J, Goutières F. Epilepsy in childhood mitochondrial encephalomyopathies. In: Wolf P, Dam M, Janz D, Dreifuss FE, eds. Advances in epileptology. Vol 16. New York: Raven Press, 1987: 181-4.
    • (1987) Advances in Epileptology , vol.16 , pp. 181-184
    • Chevrie, J.-J.1    Aicardi, J.2    Goutières, F.3
  • 19
    • 0026090091 scopus 로고
    • A case with MELAS associated with epilepsia partialis continua
    • 19. Miyazaki M, Saijo T, Mori K, et al. A case with MELAS associated with epilepsia partialis continua (in Japanese). No To Hattatsu (Tokyo) 1991; 23: 65-70.
    • (1991) No To Hattatsu (Tokyo) , vol.23 , pp. 65-70
    • Miyazaki, M.1    Saijo, T.2    Mori, K.3
  • 20
    • 0024805390 scopus 로고
    • Epilessia parziale continua e tremore similparkinsoniano in pazienti con anemia megaloblastica, omocistinuria, aciduria metilmalonica ad esordio tardo infantile
    • 20. Colamaria V, Rubino T, Burlina AB, et al. Epilessia parziale continua e tremore similparkinsoniano in pazienti con anemia megaloblastica, omocistinuria, aciduria metilmalonica ad esordio tardo infantile. Boll Lega Ital Epil 1989; 66/67: 233-5.
    • (1989) Boll Lega Ital Epil , vol.66-67 , pp. 233-235
    • Colamaria, V.1    Rubino, T.2    Burlina, A.B.3
  • 21
    • 0021018864 scopus 로고
    • Mitochondrial myopathy and encephalopathy: Three cases-a deficiency of NADH-CoQ dehydrogenase?
    • 21. Holliday PL, Climie AR, Gilroy J, Mahmud MZ. Mitochondrial myopathy and encephalopathy: three cases-A deficiency of NADH-CoQ dehydrogenase? Neurology 1983; 33: 1619-22.
    • (1983) Neurology , vol.33 , pp. 1619-1622
    • Holliday, P.L.1    Climie, A.R.2    Gilroy, J.3    Mahmud, M.Z.4
  • 22
    • 0024999128 scopus 로고
    • Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review
    • 22. Harding BN. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review. J Child Neurol 1990; 5: 273-87.
    • (1990) J Child Neurol , vol.5 , pp. 273-287
    • Harding, B.N.1
  • 24
    • 0024208271 scopus 로고
    • Kojewnikow's epilepsia partialis continua: Two cases associated with striatal necrosis
    • 24. Colamaria V, Plouin P, Dulac O, Cesaro G, Dalla Bernardina B. Kojewnikow's epilepsia partialis continua: two cases associated with striatal necrosis. Neurophysiol Clin 1988; 18: 525-30.
    • (1988) Neurophysiol Clin , vol.18 , pp. 525-530
    • Colamaria, V.1    Plouin, P.2    Dulac, O.3    Cesaro, G.4    Bernardina, B.5
  • 25
    • 0027465669 scopus 로고
    • Focal status epilepticus and epilepsia partialis continua in adults and children
    • 25. Schomer DL. Focal status epilepticus and epilepsia partialis continua in adults and children. Epilepsia 1993; 34 (Suppl. 1); S29-S36.
    • (1993) Epilepsia , vol.34 , Issue.SUPPL. 1
    • Schomer, D.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.