-
1
-
-
34547823401
-
A quantitative overview if glucose dynamics in the gliovascular unit
-
Barros LF, Bittner CX, Loaiza A, Porras OH. A quantitative overview if glucose dynamics in the gliovascular unit. Glia. 2007 ; 55: 1222-1237
-
(2007)
Glia
, vol.55
, pp. 1222-1237
-
-
Barros, L.F.1
Bittner, C.X.2
Loaiza, A.3
Porras, O.H.4
-
2
-
-
0031238676
-
Glucose transporter proteins in brain delivery of glucose to neurons and glia
-
Vannucci SJ, Maher F, Simpson IA. Glucose transporter proteins in brain delivery of glucose to neurons and glia. Glia. 1997 ; 21: 2-21
-
(1997)
Glia
, vol.21
, pp. 2-21
-
-
Vannucci, S.J.1
Maher, F.2
Simpson, I.A.3
-
3
-
-
0022360064
-
Sequence and structure of a human glucose transport
-
Mueckler M, Caruso C, Baldwin SA, et al. Sequence and structure of a human glucose transport. Science. 1985 ; 229: 941-945
-
(1985)
Science
, vol.229
, pp. 941-945
-
-
Mueckler, M.1
Caruso, C.2
Baldwin, S.A.3
-
4
-
-
0034785807
-
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy
-
Brockmann K, Wang D, Korenke CG. 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.G.3
-
5
-
-
0035173740
-
Autosomal dominant transmission of GLUT1 deficiency
-
Klepper J, Willemsen M, Verrips A, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet. 2001 ; 10: 63-68
-
(2001)
Hum Mol Genet
, vol.10
, pp. 63-68
-
-
Klepper, J.1
Willemsen, M.2
Verrips, A.3
-
6
-
-
78650879881
-
Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
-
Rotstein M, Engelstad BS, 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, B.S.2
Yang, H.3
-
7
-
-
0025819954
-
Defective glucose transport across the blood brain barrier as a cause of persistent hypoglycorrhachia, seizures, and development 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 development 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
-
8
-
-
34548242739
-
GLUT1 deficiency syndrome - 2007 update
-
Klepper J, Leiendecker B. GLUT1 deficiency syndrome - 2007 update. Dev Med Child Neurol. 2007 ; 49: 707-716
-
(2007)
Dev Med Child Neurol
, vol.49
, pp. 707-716
-
-
Klepper, J.1
Leiendecker, B.2
-
10
-
-
33644964897
-
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
-
Friedman JR, Thiele EA, Wang D, et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006 ; 21: 241-245
-
(2006)
Mov Disord
, vol.21
, pp. 241-245
-
-
Friedman, J.R.1
Thiele, E.A.2
Wang, D.3
-
11
-
-
47349106524
-
GLUT1 deficiency without epilepsy: Yet another case
-
Joshi C, Greenberg CR, De Vivo D, et al. GLUT1 deficiency without epilepsy: yet another case. J Child Neurol. 2008 ; 23: 832-834
-
(2008)
J Child Neurol
, vol.23
, pp. 832-834
-
-
Joshi, C.1
Greenberg, C.R.2
De Vivo, D.3
-
12
-
-
67649421265
-
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
-
13
-
-
45749108564
-
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesia and induce hemolytic anemia by a cation leak
-
Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesia and induce hemolytic anemia by a cation leak. J Clin Invest. 2008 ; 118: 1831-1844
-
(2008)
J Clin Invest
, vol.118
, pp. 1831-1844
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
-
14
-
-
46849102968
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
-
Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008 ; 131: 1831-1844
-
(2008)
Brain
, vol.131
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
-
15
-
-
77950286198
-
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
-
16
-
-
77955363549
-
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
-
Mullen SA, Suls A, Jonghe PD, 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
Jonghe, P.D.3
Berkovic, S.F.4
Scheffer, I.E.5
-
17
-
-
84255194777
-
Glut1 deficiency syndrome and erythrocyte glucose uptake assay
-
Yang H, Wang D, Engelstad K, et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011 ; 70: 996-1005
-
(2011)
Ann Neurol
, vol.70
, pp. 996-1005
-
-
Yang, H.1
Wang, D.2
Engelstad, K.3
-
18
-
-
0032946375
-
Erythrocyte 3-O-methyl-d-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome
-
Klepper J, Garcia-Alvarez M, O'Driscoll KR, et al. Erythrocyte 3-O-methyl-d-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. J Clin Lab Anal. 1999 ; 13: 116-121
-
(1999)
J Clin Lab Anal
, vol.13
, pp. 116-121
-
-
Klepper, J.1
Garcia-Alvarez, M.2
O'Driscoll, K.R.3
-
19
-
-
0037651879
-
Seizure characterization and electroencephalographic features in Glut1 deficiency syndrome
-
Leary LD, Wang D, Nordi DR, Engeslstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut1 deficiency syndrome. Epilepsia. 2003 ; 44: 701-707
-
(2003)
Epilepsia
, vol.44
, pp. 701-707
-
-
Leary, L.D.1
Wang, D.2
Nordi, D.R.3
Engeslstad, K.4
De Vivo, D.C.5
-
20
-
-
84866054022
-
Glucose transporter type i deficiency syndrome: Epilepsy phenotypes and outcome
-
Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcome. Epilepsia. 2012 ; 53: 1503-1510
-
(2012)
Epilepsia
, vol.53
, pp. 1503-1510
-
-
Pong, A.W.1
Geary, B.R.2
Engelstad, K.M.3
Natarajan, A.4
Yang, H.5
De Vivo, D.C.6
-
21
-
-
0036791941
-
Imaging the metabolic footprint of GLUT1 deficiency on the brain
-
Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Imaging the metabolic footprint of GLUT1 deficiency on the brain. Ann Neurol. 2002 ; 52: 458-464
-
(2002)
Ann Neurol
, vol.52
, pp. 458-464
-
-
Pascual, J.M.1
Van Heertum, R.L.2
Wang, D.3
Engelstad, K.4
De Vivo, D.C.5
-
22
-
-
0023579699
-
Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3-p35
-
Shows TB, Eddy RL, Byers MG, et al. Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3-p35. Diabetes. 1987 ; 36: 546-549
-
(1987)
Diabetes
, vol.36
, pp. 546-549
-
-
Shows, T.B.1
Eddy, R.L.2
Byers, M.G.3
-
23
-
-
0023950360
-
Characterization and expression of human HepG2/erythrocyte glucose transporter gene
-
Fukumoto H, Seino S, Imura H, Seino Y, Bell GI. Characterization and expression of human HepG2/erythrocyte glucose transporter gene. Diabetes. 1988 ; 37: 657-661
-
(1988)
Diabetes
, vol.37
, pp. 657-661
-
-
Fukumoto, H.1
Seino, S.2
Imura, H.3
Seino, Y.4
Bell, G.I.5
-
24
-
-
11144223212
-
Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects
-
Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005 ; 57: 111-118
-
(2005)
Ann Neurol
, vol.57
, pp. 111-118
-
-
Wang, D.1
Pascual, J.M.2
Yang, H.3
-
25
-
-
27144454384
-
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: A 2- to 5-year follow-up of 15 children enrolled prospectively
-
Klepper J, Scheffer H, Leiendecker B, et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics. 2005 ; 36: 302-308
-
(2005)
Neuropediatrics
, vol.36
, pp. 302-308
-
-
Klepper, J.1
Scheffer, H.2
Leiendecker, B.3
-
26
-
-
81355161380
-
Glucose transporter type 1 deficiency syndrome with carbohydrate- responsive symptoms but without epilepsy
-
Koy A, Assmann B, Klepper J, Mayatepek E. Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. Dev Med Child Meurol. 2011 ; 53: 1154-1156
-
(2011)
Dev Med Child Meurol
, vol.53
, pp. 1154-1156
-
-
Koy, A.1
Assmann, B.2
Klepper, J.3
Mayatepek, E.4
-
27
-
-
0242266952
-
Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A
-
Bercovich D, Beaudet AL. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A. Genet Testing. 2003 ; 7: 189-194
-
(2003)
Genet Testing
, vol.7
, pp. 189-194
-
-
Bercovich, D.1
Beaudet, A.L.2
-
28
-
-
26244438720
-
DHPLC in clinical molecular diagnostic services
-
Kosaki K, Udaka T, Okuyama T. DHPLC in clinical molecular diagnostic services. Mol Genet Metab. 2005 ; 86: 117-123
-
(2005)
Mol Genet Metab
, vol.86
, pp. 117-123
-
-
Kosaki, K.1
Udaka, T.2
Okuyama, T.3
-
29
-
-
0004281592
-
-
2nd ed. Philadelphia, PA: Wilkins Health; 2008. Philadelphia, PA: Wilkins Health;
-
Engel JM, Pedley TA, Aicardi J, Dichter MA Epilepsy: A Comprehensive Textbook. 2 nd ed. Philadelphia, PA: Wilkins Health; 2008. Philadelphia, PA: Wilkins Health ; 2008:
-
(2008)
Epilepsy: A Comprehensive Textbook
-
-
Engel, J.M.1
Pedley, T.A.2
Aicardi, J.3
Dichter, M.A.4
-
31
-
-
0035033520
-
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace RH, Marini C, Petrou S, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 ; 28: 49-52
-
(2001)
Nat Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
-
33
-
-
79958270337
-
A modified Atkins diet promising as a treatment for glucose transporter type 1 deficiency syndrome
-
Ito Y, Oguni H, Ito S, Oguni M, Osawa M. A modified Atkins diet promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol. 2011 ; 53: 658-663
-
(2011)
Dev Med Child Neurol
, vol.53
, pp. 658-663
-
-
Ito, Y.1
Oguni, H.2
Ito, S.3
Oguni, M.4
Osawa, M.5
-
34
-
-
79953783185
-
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency
-
Anheim M, Maillart E, Vuillaumier-Barrot S, et al. Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. J Neurol. 2011 ; 258: 316-313
-
(2011)
J Neurol
, vol.258
, pp. 316-313
-
-
Anheim, M.1
Maillart, E.2
Vuillaumier-Barrot, S.3
|