메뉴 건너뛰기




Volumn 33, Issue 6, 2011, Pages 512-517

Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases

Author keywords

Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute necrotizing encephalopathy; Carnitine palmitoyltransferase II; Single nucleotide polymorphism

Indexed keywords

ACUTE BRAIN DISEASE; ALLELE; ARTICLE; CARNITINE PALMITOYL TRANSFERASE II GENE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE ACTIVITY; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; INFECTION; JAPANESE; MALE; PRESCHOOL CHILD; RISK FACTOR; SCHOOL CHILD; SEIZURE;

EID: 79955926065     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.09.002     Document Type: Article
Times cited : (78)

References (12)
  • 1
    • 33847717961 scopus 로고    scopus 로고
    • Acute encephalopathy associated with influenza and other viral infections
    • Mizuguchi M., Yannanouchi H., Ichiyama T., Shiomi M. Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand 2007, 115(Suppl. 4):45-56.
    • (2007) Acta Neurol Scand , vol.115 , Issue.SUPPL. 4 , pp. 45-56
    • Mizuguchi, M.1    Yannanouchi, H.2    Ichiyama, T.3    Shiomi, M.4
  • 2
    • 33646698023 scopus 로고    scopus 로고
    • Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy
    • Takanashi J., Oba H., Barkovich A.J., Tada H., Tanabe Y., Yamanouchi H., et al. Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy. Neurology 2006, 66:1304-1309.
    • (2006) Neurology , vol.66 , pp. 1304-1309
    • Takanashi, J.1    Oba, H.2    Barkovich, A.J.3    Tada, H.4    Tanabe, Y.5    Yamanouchi, H.6
  • 3
    • 0030949807 scopus 로고    scopus 로고
    • Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan
    • Mizuguchi M. Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev 1997, 19:81-92.
    • (1997) Brain Dev , vol.19 , pp. 81-92
    • Mizuguchi, M.1
  • 4
    • 0034060125 scopus 로고    scopus 로고
    • Influenza-associated encephalopathy in Japan: Pathogenesis and treatment
    • Sugaya N. Influenza-associated encephalopathy in Japan: Pathogenesis and treatment. Pediatr Int 2000, 42:215-218.
    • (2000) Pediatr Int , vol.42 , pp. 215-218
    • Sugaya, N.1
  • 5
    • 0028199198 scopus 로고
    • Acute Encephalopathy and Status Epilepticus Associated with Human Herpes Virus 6 Infection
    • Jones C.M., Dunn H.G., Thomas E.E., Cone R.W., Weber J.M. Acute Encephalopathy and Status Epilepticus Associated with Human Herpes Virus 6 Infection. Develop Med Child Neurol 1994, 36:646-650.
    • (1994) Develop Med Child Neurol , vol.36 , pp. 646-650
    • Jones, C.M.1    Dunn, H.G.2    Thomas, E.E.3    Cone, R.W.4    Weber, J.M.5
  • 6
    • 20144387942 scopus 로고    scopus 로고
    • Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy
    • Chen Y., Mizuguchi H., Yao D., Ide M., Kuroda Y., Shigematsu Y., et al. Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett 2005, 579:2040-2044.
    • (2005) FEBS Lett , vol.579 , pp. 2040-2044
    • Chen, Y.1    Mizuguchi, H.2    Yao, D.3    Ide, M.4    Kuroda, Y.5    Shigematsu, Y.6
  • 7
    • 0025331835 scopus 로고
    • Inter-tissue and Inter-species Characteristics of Mitochondrial Carnitine Palmitoyltransferase Enzyme System
    • Woeltje K.F., Esser V., Weis B.C., Cox W.F., Schroeder J.G., Liao S.T., et al. Inter-tissue and Inter-species Characteristics of Mitochondrial Carnitine Palmitoyltransferase Enzyme System. Biol Chem 1990, 265:10714-10719.
    • (1990) Biol Chem , vol.265 , pp. 10714-10719
    • Woeltje, K.F.1    Esser, V.2    Weis, B.C.3    Cox, W.F.4    Schroeder, J.G.5    Liao, S.T.6
  • 8
    • 0036804939 scopus 로고    scopus 로고
    • A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000
    • Tamaoki Y., Kimura M., Hasegawa Y., Iga M., Inoue M., Yamaguchi S. A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000. Brain Dev 2002, 24:675-680.
    • (2002) Brain Dev , vol.24 , pp. 675-680
    • Tamaoki, Y.1    Kimura, M.2    Hasegawa, Y.3    Iga, M.4    Inoue, M.5    Yamaguchi, S.6
  • 9
    • 40949110214 scopus 로고    scopus 로고
    • A concept of acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) and theophylline as one of its precipitating causes (in Japanese)
    • Shiomi M., Ishikawa J., Togawa M., Okazaki S., Kuki I., Kimura S., et al. A concept of acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) and theophylline as one of its precipitating causes (in Japanese). No To Hattatsu 2008, 40:122-127.
    • (2008) No To Hattatsu , vol.40 , pp. 122-127
    • Shiomi, M.1    Ishikawa, J.2    Togawa, M.3    Okazaki, S.4    Kuki, I.5    Kimura, S.6
  • 10
    • 7144227283 scopus 로고    scopus 로고
    • Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
    • Wataya K., Akanuma J., Cavadini P., Aoki Y., Kure S., Invernizzi F., et al. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 1998, 11:377-386.
    • (1998) Hum Mutat , vol.11 , pp. 377-386
    • Wataya, K.1    Akanuma, J.2    Cavadini, P.3    Aoki, Y.4    Kure, S.5    Invernizzi, F.6
  • 11
    • 10744227202 scopus 로고    scopus 로고
    • Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency
    • Olpin S.E., Afifi A., Clark S., Manning N.J., Bonham J.R., Dalton A., et al. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis 2003, 26:543-557.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 543-557
    • Olpin, S.E.1    Afifi, A.2    Clark, S.3    Manning, N.J.4    Bonham, J.R.5    Dalton, A.6
  • 12
    • 0030049020 scopus 로고    scopus 로고
    • Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency
    • Handig I., Dams E., Taroni F., Vanlaere S., deBarsy T., Willems P.J. Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. Hum Genet 1996, 97:291-293.
    • (1996) Hum Genet , vol.97 , pp. 291-293
    • Handig, I.1    Dams, E.2    Taroni, F.3    Vanlaere, S.4    deBarsy, T.5    Willems, P.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.