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Volumn 80, Issue 1, 2008, Pages 18-22

Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: A successful use of zonisamide for controlling the seizures

Author keywords

Glucose transporter 1; Ketogenic diet; Mutation; Seizure; Zonisamide

Indexed keywords

BARBITURIC ACID DERIVATIVE; CHLORAL HYDRATE; CLOBAZAM; CLONAZEPAM; DIAZEPAM; GLUCOSE TRANSPORTER 1; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID; ZONISAMIDE;

EID: 44749085375     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2008.03.010     Document Type: Article
Times cited : (14)

References (21)
  • 1
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., and Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 325 (1991) 703-709
    • (1991) N. Engl. J. Med. , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3    Ronen, G.M.4    Behmand, R.A.5    Harik, S.I.6
  • 2
    • 0026063037 scopus 로고
    • Blood-brain barrier glucose transporter is asymmetrically distributed on brain capillary endothelial lumenal and ablumenal membranes: an electron microscopic immunogold study
    • Farrell C.L., and Pardridge W.M. Blood-brain barrier glucose transporter is asymmetrically distributed on brain capillary endothelial lumenal and ablumenal membranes: an electron microscopic immunogold study. Proc. Natl. Acad. Sci. U.S.A. 88 (1991) 5779-5783
    • (1991) Proc. Natl. Acad. Sci. U.S.A. , vol.88 , pp. 5779-5783
    • Farrell, C.L.1    Pardridge, W.M.2
  • 4
    • 0034925884 scopus 로고    scopus 로고
    • Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro
    • Ho Y.Y., Yang H., Klepper J., Fischbarg J., Wang D., and De Vivo D.C. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr. Res. 50 (2001) 254-260
    • (2001) Pediatr. Res. , vol.50 , pp. 254-260
    • Ho, Y.Y.1    Yang, H.2    Klepper, J.3    Fischbarg, J.4    Wang, D.5    De Vivo, D.C.6
  • 5
    • 0028906339 scopus 로고
    • Barbiturates inhibit hexose transport in cultured mammalian cells and human erythrocytes and interact directly with purified GLUT-1
    • Honkanen R.A., McBath H., Kushmerick C., Callender G.E., Scarlata S.F., Fenstermacher J.D., and Haspel H.C. Barbiturates inhibit hexose transport in cultured mammalian cells and human erythrocytes and interact directly with purified GLUT-1. Biochemistry 34 (1995) 535-544
    • (1995) Biochemistry , vol.34 , pp. 535-544
    • Honkanen, R.A.1    McBath, H.2    Kushmerick, C.3    Callender, G.E.4    Scarlata, S.F.5    Fenstermacher, J.D.6    Haspel, H.C.7
  • 6
    • 0032748870 scopus 로고    scopus 로고
    • GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro
    • Klepper J., Fischbarg J., Vera J.C., Wang D., and De Vivo D.C. GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. Pediatr. Res. 46 (1999) 677-683
    • (1999) Pediatr. Res. , vol.46 , pp. 677-683
    • Klepper, J.1    Fischbarg, J.2    Vera, J.C.3    Wang, D.4    De Vivo, D.C.5
  • 10
    • 0036261454 scopus 로고    scopus 로고
    • Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-a review
    • Klepper J., and Voit T. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-a review. Eur. J. Pediatr. 161 (2002) 295-304
    • (2002) Eur. J. Pediatr. , vol.161 , pp. 295-304
    • Klepper, J.1    Voit, T.2
  • 11
    • 0242600762 scopus 로고    scopus 로고
    • Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
    • Klepper J., Florcken A., Fischbarg J., and Voit T. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro. Eur. J. Pediatr. 162 (2003) 84-89
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 84-89
    • Klepper, J.1    Florcken, A.2    Fischbarg, J.3    Voit, T.4
  • 12
    • 0037651879 scopus 로고    scopus 로고
    • Seizure characterization and electroencephalographic features in GLUT-1 deficiency syndrome
    • Leary L.D., Wang D., Nordli Jr. D.R., Engelstad K., and De Vivo D.C. Seizure characterization and electroencephalographic features in GLUT-1 deficiency syndrome. Epilepsia 44 (2003) 701-707
    • (2003) Epilepsia , vol.44 , pp. 701-707
    • Leary, L.D.1    Wang, D.2    Nordli Jr., D.R.3    Engelstad, K.4    De Vivo, D.C.5
  • 14
    • 0030755496 scopus 로고    scopus 로고
    • The ketogenic diet revisited: back to the future
    • Nordli Jr. D.R., and De Vivo D.C. The ketogenic diet revisited: back to the future. Epilepsia 38 (1997) 743-749
    • (1997) Epilepsia , vol.38 , pp. 743-749
    • Nordli Jr., D.R.1    De Vivo, D.C.2
  • 15
    • 32644476871 scopus 로고    scopus 로고
    • Zonisamide in the management of epilepsy-Japanese experience
    • Ohtahara S. Zonisamide in the management of epilepsy-Japanese experience. Epilepsy Res. Suppl. 2 (2006) S25-S33
    • (2006) Epilepsy Res. Suppl. , vol.2
    • Ohtahara, S.1
  • 16
    • 0025123704 scopus 로고
    • Brain-type glucose transporter (GLUT-1) is selectively localized to the blood-brain barrier Studies with quantitative western blotting and in situ hybridisation
    • Pardridge W.M., Boado R.J., and Farrell C.R. Brain-type glucose transporter (GLUT-1) is selectively localized to the blood-brain barrier Studies with quantitative western blotting and in situ hybridisation. J. Biol. Chem. 265 (1990) 18035-18040
    • (1990) J. Biol. Chem. , vol.265 , pp. 18035-18040
    • Pardridge, W.M.1    Boado, R.J.2    Farrell, C.R.3
  • 18
    • 0029095432 scopus 로고
    • HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a association study and molecular scanning in Japanese subjects
    • Tao T., Tanizawa Y., Matsutani A., Matsubara A., Kaneko T., and Kaku K. HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a association study and molecular scanning in Japanese subjects. Diabetologia 38 (1995) 942-947
    • (1995) Diabetologia , vol.38 , pp. 942-947
    • Tao, T.1    Tanizawa, Y.2    Matsutani, A.3    Matsubara, A.4    Kaneko, T.5    Kaku, K.6
  • 19
    • 0033850218 scopus 로고    scopus 로고
    • Mutational analysis of GLUT1 (SLC2A1) in GLUT-1 deficiency syndrome
    • Wang D., Kranz-Eble P., and De Vivo D.C. Mutational analysis of GLUT1 (SLC2A1) in GLUT-1 deficiency syndrome. Hum. Mutat. 16 (2000) 224-231
    • (2000) Hum. Mutat. , vol.16 , pp. 224-231
    • Wang, D.1    Kranz-Eble, P.2    De Vivo, D.C.3
  • 21
    • 27644531002 scopus 로고    scopus 로고
    • Sodium valproate inhibits glucose transport and exacerbates GLUT1-deficiency in vitro
    • Wong H.Y., Chu T.S., Lai J.C., Fung K.P., Fok T.F., Fujii T., and Ho Y.Y. Sodium valproate inhibits glucose transport and exacerbates GLUT1-deficiency in vitro. J. Cell Biochem. 96 (2005) 775-785
    • (2005) J. Cell Biochem. , vol.96 , pp. 775-785
    • Wong, H.Y.1    Chu, T.S.2    Lai, J.C.3    Fung, K.P.4    Fok, T.F.5    Fujii, T.6    Ho, Y.Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.