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Volumn 27, Issue 6, 2012, Pages 804-805

A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; GLUCOSE TRANSPORTER 1;

EID: 84861662654     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24966     Document Type: Letter
Times cited : (3)

References (7)
  • 2
    • 79957599929 scopus 로고    scopus 로고
    • Paroxysmal dyskinesias
    • Bhatia KP. Paroxysmal dyskinesias. Mov Disord. 2011; 26: 1157-1165.
    • (2011) Mov Disord. , vol.26 , pp. 1157-1165
    • Bhatia, K.P.1
  • 3
    • 0034785807 scopus 로고    scopus 로고
    • Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy
    • Brockmann K, Wang D., Korenke C, et al. Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. Ann Neurol. 2001; 50: 476-485.
    • (2001) Ann Neurol. , vol.50 , pp. 476-485
    • Brockmann, K.1    Wang, D.2    Korenke, C.3
  • 4
    • 0035370126 scopus 로고    scopus 로고
    • Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
    • Klepper J, Monden I, Guertsen E, Voit T, Willemsen M, Keller K. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene. FEBS Lett. 2001; 498: 104-109.
    • (2001) FEBS Lett. , vol.498 , pp. 104-109
    • Klepper, J.1    Monden, I.2    Guertsen, E.3    Voit, T.4    Willemsen, M.5    Keller, K.6
  • 5
    • 0022492610 scopus 로고
    • The human glucose transporter can insert posttranslationally into microsomes
    • Mueckler M, Lodish HF. The human glucose transporter can insert posttranslationally into microsomes. Cell. 1986; 44: 629-637.
    • (1986) Cell. , vol.44 , pp. 629-637
    • Mueckler, M.1    Lodish, H.F.2
  • 6
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo DC, Trifiletti RR, Jacobson RI, et al. 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
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3
  • 7
    • 77952683141 scopus 로고    scopus 로고
    • Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
    • Aktas D, Utine EG, Mrasek K, et al. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Mol Cytogenet. 2010; 3: 10.
    • (2010) Mol Cytogenet. , vol.3 , pp. 10
    • Aktas, D.1    Utine, E.G.2    Mrasek, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.