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Volumn 77, Issue 10, 2011, Pages 959-964

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1; SLC2A1 PROTEIN, HUMAN;

EID: 80054888031     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31822e0479     Document Type: Article
Times cited : (96)

References (17)
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  • 2
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    • Brain-type glucose transporter (GLUTl) is selectively localized to the bloodbrain barrier: Studies with quantitative Western blotting and in situ hybridization
    • Pardridge WM, Boado RJ, Farrell CR. Brain-type glucose transporter (GLUTl) is selectively localized to the bloodbrain barrier: studies with quantitative Western blotting and in situ hybridization. J Biol Chem 1990;265:18035-18040.
    • (1990) J Biol Chem , vol.265 , pp. 18035-18040
    • Pardridge, W.M.1    Boado, R.J.2    Farrell, C.R.3
  • 3
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    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • DeVivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-709.
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • DeVivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3    Ronen, G.M.4    Behmand, R.A.5    Harik, S.I.6
  • 6
    • 67649421265 scopus 로고    scopus 로고
    • The expanding phenotype of GLUT1- Deficiency syndrome
    • Brockmann K. The expanding phenotype of GLUT1- deficiency syndrome. Brain Dev 2009;31:545-552.
    • (2009) Brain Dev , vol.31 , pp. 545-552
    • Brockmann, K.1
  • 10
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    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2cM between D1S443 and D1S197
    • Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2cM between D1S443 and D1S197. Genomics 1996;31: 90-94.
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2    Lunkes, A.3
  • 13
    • 70350075265 scopus 로고    scopus 로고
    • Early onset absence epilepsy due to mutations in the glucose transporter GLUT1
    • Suls A, Mullen SA, Weber YG, et al. Early onset absence epilepsy due to mutations in the glucose transporter GLUT1. Ann Neurol 2009;66:415-419.
    • (2009) Ann Neurol , vol.66 , pp. 415-419
    • Suls, A.1    Mullen, S.A.2    Weber, Y.G.3
  • 14
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    • Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
    • Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010; 133:655-670.
    • (2010) Brain , vol.133 , pp. 655-670
    • Leen, W.G.1    Klepper, J.2    Verbeek, M.M.3
  • 17
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    • Genetic animal models
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    • Lerche H, Petrou S. Genetic animal models. In: Panayiotopoulos CP, ed. Atlas of Epilepsies. London: Springer; 2010:295-306.
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    • Lerche, H.1    Petrou, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.