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Volumn 295, Issue 1-2, 2010, Pages 110-113

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation

Author keywords

Absence epilepsy; GLUT1; Ketogenic diet; Migraine; Paroxysmal dyskinesia; SLC2A1; Writer's cramp

Indexed keywords

ETHOSUXIMIDE; GENOMIC DNA; GLUCOSE; GLUCOSE TRANSPORTER 1;

EID: 77953870704     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.05.017     Document Type: Article
Times cited : (53)

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
    • 17344367164 scopus 로고    scopus 로고
    • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • Seidner G., Alvarez M.G., Yeh J.I., O'Driscoll K.R., Klepper J., Stump T.S., et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 18 (1998) 188-191
    • (1998) Nat Genet , vol.18 , pp. 188-191
    • Seidner, G.1    Alvarez, M.G.2    Yeh, J.I.3    O'Driscoll, K.R.4    Klepper, J.5    Stump, T.S.6
  • 3
    • 33644964897 scopus 로고    scopus 로고
    • Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
    • Friedman J.R., Thiele E.A., Wang D., Levine K.B., Cloherty E.K., Pfeifer H.H., et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 21 (2006) 241-245
    • (2006) Mov Disord , vol.21 , pp. 241-245
    • Friedman, J.R.1    Thiele, E.A.2    Wang, D.3    Levine, K.B.4    Cloherty, E.K.5    Pfeifer, H.H.6
  • 5
    • 70449671049 scopus 로고    scopus 로고
    • Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome
    • Perez-Duenas B., Prior C., Ma Q., Fernandez-Alvarez E., Setoain X., Artuch R., et al. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. Arch Neurol 66 (2009) 1410-1414
    • (2009) Arch Neurol , vol.66 , pp. 1410-1414
    • Perez-Duenas, B.1    Prior, C.2    Ma, Q.3    Fernandez-Alvarez, E.4    Setoain, X.5    Artuch, R.6
  • 6
    • 46849102968 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
    • Suls A., Dedeken P., Goffin K., Van Esch H., Dupont P., Cassiman D., et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131 (2008) 1831-1844
    • (2008) Brain , vol.131 , pp. 1831-1844
    • Suls, A.1    Dedeken, P.2    Goffin, K.3    Van Esch, H.4    Dupont, P.5    Cassiman, D.6
  • 7
    • 45749108564 scopus 로고    scopus 로고
    • GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
    • Weber Y.G., Storch A., Wuttke T.V., Brockmann K., Kempfle J., Maljevic S., et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118 (2008) 2157-2168
    • (2008) J Clin Invest , vol.118 , pp. 2157-2168
    • Weber, Y.G.1    Storch, A.2    Wuttke, T.V.3    Brockmann, K.4    Kempfle, J.5    Maljevic, S.6
  • 8
    • 70350075265 scopus 로고    scopus 로고
    • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    • Suls A., Mullen S.A., Weber Y.G., Verhaert K., Ceulemans B., Guerrini R., et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 66 (2009) 415-419
    • (2009) Ann Neurol , vol.66 , pp. 415-419
    • Suls, A.1    Mullen, S.A.2    Weber, Y.G.3    Verhaert, K.4    Ceulemans, B.5    Guerrini, R.6
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 33646698682 scopus 로고    scopus 로고
    • Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome
    • Coman D.J., Sinclair K.G., Burke C.J., Appleton D.B., Pelekanos J.T., O'Neil C.M., et al. Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome. J Paediatr Child Health 42 (2006) 263-267
    • (2006) J Paediatr Child Health , vol.42 , pp. 263-267
    • Coman, D.J.1    Sinclair, K.G.2    Burke, C.J.3    Appleton, D.B.4    Pelekanos, J.T.5    O'Neil, C.M.6
  • 12
    • 67649421265 scopus 로고    scopus 로고
    • The expanding phenotype of GLUT1-deficiency syndrome
    • Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev 31 (2009) 545-552
    • (2009) Brain Dev , vol.31 , pp. 545-552
    • Brockmann, K.1
  • 14
    • 11144223212 scopus 로고    scopus 로고
    • Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects
    • Wang D., Pascual J.M., Yang H., Engelstad K., Jhung S., Sun R.P., et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 57 (2005) 111-118
    • (2005) Ann Neurol , vol.57 , pp. 111-118
    • Wang, D.1    Pascual, J.M.2    Yang, H.3    Engelstad, K.4    Jhung, S.5    Sun, R.P.6
  • 16
    • 0034208616 scopus 로고    scopus 로고
    • Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder
    • Margari L., Perniola T., Illiceto G., Ferrannini E., De Iaco M.G., Presicci A., et al. Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. Neurol Sci 21 (2000) 165-172
    • (2000) Neurol Sci , vol.21 , pp. 165-172
    • Margari, L.1    Perniola, T.2    Illiceto, G.3    Ferrannini, E.4    De Iaco, M.G.5    Presicci, A.6
  • 17
    • 34548242739 scopus 로고    scopus 로고
    • GLUT1 deficiency syndrome-2007 update
    • Klepper J., and Leiendecker B. GLUT1 deficiency syndrome-2007 update. Dev Med Child Neurol 49 (2007) 707-716
    • (2007) Dev Med Child Neurol , vol.49 , pp. 707-716
    • Klepper, J.1    Leiendecker, B.2
  • 19
    • 0033055535 scopus 로고    scopus 로고
    • Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    • Guerrini R., Bonanni P., Nardocci N., Parmeggiani L., Piccirilli M., De Fusco M., et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 45 (1999) 344-352
    • (1999) Ann Neurol , vol.45 , pp. 344-352
    • Guerrini, R.1    Bonanni, P.2    Nardocci, N.3    Parmeggiani, L.4    Piccirilli, M.5    De Fusco, M.6
  • 20
    • 0028339799 scopus 로고
    • A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity
    • Mueckler M., Kruse M., Strube M., Riggs A.C., Chiu K.C., and Permutt M.A. A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. J Biol Chem 269 (1994) 17765-17767
    • (1994) J Biol Chem , vol.269 , pp. 17765-17767
    • Mueckler, M.1    Kruse, M.2    Strube, M.3    Riggs, A.C.4    Chiu, K.C.5    Permutt, M.A.6
  • 21
    • 0030774071 scopus 로고    scopus 로고
    • Identification of an amino acid residue that lies between the exofacial vestibule and exofacial substrate-binding site of the Glut1 sugar permeation pathway
    • Mueckler M., and Makepeace C. Identification of an amino acid residue that lies between the exofacial vestibule and exofacial substrate-binding site of the Glut1 sugar permeation pathway. J Biol Chem 272 (1997) 30141-30146
    • (1997) J Biol Chem , vol.272 , pp. 30141-30146
    • Mueckler, M.1    Makepeace, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.