A citation-based method for searching scientific literature

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
G Seidner, M G Alvarez, J I Yeh, K R O'Driscoll, J Klepper, T S Stump, D Wang, N B Spinner, M J Birnbaum, D C De Vivo. Nat Genet 1998
Times Cited: 264






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List of co-cited articles
1059 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.
D C De Vivo, R R Trifiletti, R I Jacobson, G M Ronen, R A Behmand, S I Harik. N Engl J Med 1991
477
50
50

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C De Vivo. Ann Neurol 2005
192
27
27

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
219
25
25

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
207
23
23

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
232
20
20

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Todor Arsov, Saul A Mullen, Sue Rogers, A Marie Phillips, Kate M Lawrence, John A Damiano, Hadassa Goldberg-Stern, Zaid Afawi, Sara Kivity, Chantal Trager,[...]. Ann Neurol 2012
78
20
25

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
116
17
17

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Arvid Suls, Saul A Mullen, Yvonne G Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R F Claes,[...]. Ann Neurol 2009
157
16
16

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh, Melinda Nolan, Helen Young, Anaïs Thouin, Hans-Henrik M Dahl, Samuel F Berkovic,[...]. Epilepsia 2012
65
15
23

The expanding phenotype of GLUT1-deficiency syndrome.
Knut Brockmann. Brain Dev 2009
146
15
15

GLUT1 deficiency syndrome 2013: current state of the art.
Valentina De Giorgis, Pierangelo Veggiotti. Seizure 2013
115
14
14

GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration.
Ethan A Winkler, Yoichiro Nishida, Abhay P Sagare, Sanket V Rege, Robert D Bell, David Perlmutter, Jesse D Sengillo, Sara Hillman, Pan Kong, Amy R Nelson,[...]. Nat Neurosci 2015
317
14
14

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
S A Mullen, A Suls, P De Jonghe, S F Berkovic, I E Scheffer. Neurology 2010
114
13
13

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.
Wilhelmina G Leen, Ron A Wevers, Erik-Jan Kamsteeg, Hans Scheffer, Marcel M Verbeek, Michèl A Willemsen. JAMA Neurol 2013
62
13
20

A mouse model for Glut-1 haploinsufficiency.
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Xia Mao, Jianfeng Cheng, Jong Yoo, Jeffrey L Noebels, Darryl C De Vivo. Hum Mol Genet 2006
128
13
13

Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes.
Amanda W Pong, Brianna R Geary, Kris M Engelstad, Ashwini Natarajan, Hong Yang, Darryl C De Vivo. Epilepsia 2012
84
12
14

Imaging the metabolic footprint of Glut1 deficiency on the brain.
Juan M Pascual, Ronald L Van Heertum, Dong Wang, Kristin Engelstad, Darryl C De Vivo. Ann Neurol 2002
96
12
12

The spectrum of movement disorders in Glut-1 deficiency.
Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
95
12
12

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
Saul A Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John Damiano, Kate Lawrence, Peter De Jonghe,[...]. Arch Neurol 2011
87
12
13

GLUT1 deficiency syndrome in clinical practice.
Joerg Klepper. Epilepsy Res 2012
91
11
12

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
P Striano, Y G Weber, M R Toliat, J Schubert, C Leu, R Chaimana, S Baulac, R Guerrero, E LeGuern, A-E Lehesjoki,[...]. Neurology 2012
62
11
17

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.
Hong Yang, Dong Wang, Kristin Engelstad, Leslie Bagay, Ying Wei, Michael Rotstein, Vimla Aggarwal, Brynn Levy, Lijiang Ma, Wendy K Chung,[...]. Ann Neurol 2011
55
11
20

Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Michael Rotstein, Kristin Engelstad, Hong Yang, Dong Wang, Brynn Levy, Wendy K Chung, Darryl C De Vivo. Ann Neurol 2010
55
10
18

GLUT1 deficiency syndrome--2007 update.
Joerg Klepper, Baerbel Leiendecker. Dev Med Child Neurol 2007
149
10
10

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
Maoxue Tang, Guangping Gao, Carlos B Rueda, Hang Yu, David N Thibodeaux, Tomoyuki Awano, Kristin M Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li,[...]. Nat Commun 2017
53
10
18

Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.
Linda D Leary, Dong Wang, Douglas R Nordli, Kristin Engelstad, Darryl C De Vivo. Epilepsia 2003
88
9
10

Crystal structure of the human glucose transporter GLUT1.
Dong Deng, Chao Xu, Pengcheng Sun, Jianping Wu, Chuangye Yan, Mingxu Hu, Nieng Yan. Nature 2014
405
9
9

Long-term clinical course of Glut1 deficiency syndrome.
Aliza S Alter, Kristin Engelstad, Veronica J Hinton, Jacqueline Montes, Toni S Pearson, Cigdem I Akman, Darryl C De Vivo. J Child Neurol 2015
47
9
19

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Jennifer R L Friedman, Elizabeth A Thiele, Dong Wang, Kara B Levine, Erin K Cloherty, Heidi H Pfeifer, Darryl C De Vivo, Anthony Carruthers, Marvin R Natowicz. Mov Disord 2006
58
8
13

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
K Brockmann, D Wang, C G Korenke, A von Moers, Y Y Ho, J M Pascual, K Kuang, H Yang, L Ma, P Kranz-Eble,[...]. Ann Neurol 2001
114
8
8

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet.
Jörg Klepper. Epilepsia 2008
87
8
9

Autosomal recessive inheritance of GLUT1 deficiency syndrome.
J Klepper, H Scheffer, M F Elsaid, E-J Kamsteeg, M Leferink, T Ben-Omran. Neuropediatrics 2009
33
8
24

Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.
Jörg Klepper, Thomas Voit. Eur J Pediatr 2002
118
8
8

The blood-brain barrier in health and chronic neurodegenerative disorders.
Berislav V Zlokovic. Neuron 2008
2004
8
8

Immunolabelling of hippocampal microvessel glucose transporter protein is reduced in Alzheimer's disease.
N Horwood, D C Davies. Virchows Arch 1994
70
8
11

Glucose transporters in the 21st Century.
Bernard Thorens, Mike Mueckler. Am J Physiol Endocrinol Metab 2010
501
8
8

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio,[...]. Nat Genet 2012
277
8
8

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder,[...]. Nat Genet 2013
256
8
8

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
955
8
8

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Jan Larsen, Katrine Marie Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibaek, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu,[...]. Epilepsia 2015
41
8
19

GLUT1 deficiency and other glucose transporter diseases.
Juan M Pascual, Dong Wang, Beatriz Lecumberri, Hong Yang, Xia Mao, Ru Yang, Darryl C De Vivo. Eur J Endocrinol 2004
80
7
8

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
J Klepper, H Scheffer, B Leiendecker, E Gertsen, S Binder, M Leferink, C Hertzberg, A Näke, T Voit, M A Willemsen. Neuropediatrics 2005
93
7
7

Decreased concentrations of GLUT1 and GLUT3 glucose transporters in the brains of patients with Alzheimer's disease.
I A Simpson, K R Chundu, T Davies-Hill, W G Honer, P Davies. Ann Neurol 1994
323
7
7

Reduced glucose transporter at the blood-brain barrier and in cerebral cortex in Alzheimer disease.
R N Kalaria, S I Harik. J Neurochem 1989
280
7
7

Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis.
Paivi M Ullner, Alessia Di Nardo, James E Goldman, Scott Schobel, Hong Yang, Kristin Engelstad, Dong Wang, Mustafa Sahin, Darryl C De Vivo. Neurobiol Dis 2009
18
7
38

GLUT-1 expression in the cerebra of patients with Alzheimer's disease.
A D Mooradian, H C Chung, G N Shah. Neurobiol Aging 1997
140
7
7

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Y G Weber, C Kamm, A Suls, J Kempfle, K Kotschet, R Schüle, T V Wuttke, S Maljevic, J Liebrich, T Gasser,[...]. Neurology 2011
58
7
12

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
818
7
7

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Anne T Berg, Samuel F Berkovic, Martin J Brodie, Jeffrey Buchhalter, J Helen Cross, Walter van Emde Boas, Jerome Engel, Jacqueline French, Tracy A Glauser, Gary W Mathern,[...]. Epilepsia 2010
2616
7
7

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Leanne M Dibbens, Boukje de Vries, Simona Donatello, Sarah E Heron, Bree L Hodgson, Satyan Chintawar, Douglas E Crompton, James N Hughes, Susannah T Bellows, Karl Martin Klein,[...]. Nat Genet 2013
200
7
7


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.

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