메뉴 건너뛰기




Volumn 78, Issue 8, 2012, Pages 524-525

GLUT1 deficiency: A glut of epilepsy phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1;

EID: 84858143942     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318248a245     Document Type: Editorial
Times cited : (17)

References (10)
  • 1
    • 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, 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
    • 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
  • 4
    • 70350075265 scopus 로고    scopus 로고
    • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    • Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by 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
  • 5
    • 80052699025 scopus 로고    scopus 로고
    • Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
    • Mullen SA, Marini C, Suls A, et al. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 2011;68:1152-1155.
    • (2011) Arch Neurol , vol.68 , pp. 1152-1155
    • Mullen, S.A.1    Marini, C.2    Suls, A.3
  • 6
    • 77955363549 scopus 로고    scopus 로고
    • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    • Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010;75: 432-440.
    • (2010) Neurology , vol.75 , pp. 432-440
    • Mullen, S.A.1    Suls, A.2    De Jonghe, P.3    Berkovic, S.F.4    Scheffer, I.E.5
  • 7
    • 84858120198 scopus 로고    scopus 로고
    • GLUT1mutations are a rare cause of familial idiopathic generalized epilepsy
    • Striano P, Weber YG, Toliat MR, et al. GLUT1mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012;78:557-562.
    • (2012) Neurology , vol.78 , pp. 557-562
    • Striano, P.1    Weber, Y.G.2    Toliat, M.R.3
  • 8
    • 80054888031 scopus 로고    scopus 로고
    • Paroxysmal choreoathetosis/ spasticity (DYT9) is caused by a GLUT1 defect
    • Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/ spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011;77:959-964.
    • (2011) Neurology , vol.77 , pp. 959-964
    • Weber, Y.G.1    Kamm, C.2    Suls, A.3
  • 9
    • 78650879881 scopus 로고    scopus 로고
    • Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
    • Rotstein M, Engelstad K, Yang H, et al. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol 2010;68:955-958.
    • (2010) Ann Neurol , vol.68 , pp. 955-958
    • Rotstein, M.1    Engelstad, K.2    Yang, H.3
  • 10
    • 80053906761 scopus 로고    scopus 로고
    • Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    • Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011;478:57-63.
    • (2011) Nature , vol.478 , pp. 57-63
    • Najmabadi, H.1    Hu, H.2    Garshasbi, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.