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, Jolita Bekhof, Patrick van Bogaert, Inês Carrilho, Brigitte Chabrol, Michael P Champion, James Coldwell, Peter Clayton, Elizabeth Donner, Athanasios Evangeliou, Friedrich Ebinger, Kevin Farrell, Rob J Forsyth, Christian G E L de Goede, Stephanie Gross, Stephanie Grunewald, Hans Holthausen, Sandeep Jayawant, Katherine Lachlan, Vincent Laugel, Kathy Leppig, Ming J Lim, Grazia Mancini, Adela Della Marina, Loreto Martorell, Joe McMenamin, Marije E C Meuwissen, Helen Mundy, Nils O Nilsson, Axel Panzer, Bwee T Poll-The, Christian Rauscher, Christophe M R Rouselle, Inger Sandvig, Thomas Scheffner, Eamonn Sheridan, Neil Simpson, Parol Sykora, Richard Tomlinson, John Trounce, David Webb, Bernhard Weschke, Hans Scheffer, Michél A Willemsen. Brain 2010
Times Cited: 219
Times Cited: 219
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
D C De Vivo, R R Trifiletti, R I Jacobson, G M Ronen, R A Behmand, S I Harik. N Engl J Med 1991
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The spectrum of movement disorders in Glut-1 deficiency.
Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
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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
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
21
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
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
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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
Hong Yang, Dong Wang, Kristin Engelstad, Leslie Bagay, Ying Wei, Michael Rotstein, Vimla Aggarwal, Brynn Levy, Lijiang Ma, Wendy K Chung,[...]. Ann Neurol 2011
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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
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
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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
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C De Vivo. Ann Neurol 2005
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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
Aliza S Alter, Kristin Engelstad, Veronica J Hinton, Jacqueline Montes, Toni S Pearson, Cigdem I Akman, Darryl C De Vivo. J Child Neurol 2015
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GLUT1 deficiency syndrome 2013: current state of the art.
Valentina De Giorgis, Pierangelo Veggiotti. Seizure 2013
Valentina De Giorgis, Pierangelo Veggiotti. Seizure 2013
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
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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
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
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From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie,[...]. Eur J Med Genet 2015
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie,[...]. Eur J Med Genet 2015
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Use of dietary therapies amongst patients with GLUT1 deficiency syndrome.
Hannah R Kass, S Parrish Winesett, Stacey K Bessone, Zahava Turner, Eric H Kossoff. Seizure 2016
Hannah R Kass, S Parrish Winesett, Stacey K Bessone, Zahava Turner, Eric H Kossoff. Seizure 2016
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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
Wilhelmina G Leen, Ron A Wevers, Erik-Jan Kamsteeg, Hans Scheffer, Marcel M Verbeek, Michèl A Willemsen. JAMA Neurol 2013
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GLUT1 deficiency syndrome--2007 update.
Joerg Klepper, Baerbel Leiendecker. Dev Med Child Neurol 2007
Joerg Klepper, Baerbel Leiendecker. Dev Med Child Neurol 2007
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
Amanda W Pong, Brianna R Geary, Kris M Engelstad, Ashwini Natarajan, Hong Yang, Darryl C De Vivo. Epilepsia 2012
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
12
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
Michael Rotstein, Kristin Engelstad, Hong Yang, Dong Wang, Brynn Levy, Wendy K Chung, Darryl C De Vivo. Ann Neurol 2010
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GLUT1 deficiency syndrome into adulthood: a follow-up study.
W G Leen, M Taher, M M Verbeek, E J Kamsteeg, B P van de Warrenburg, M A Willemsen. J Neurol 2014
W G Leen, M Taher, M M Verbeek, E J Kamsteeg, B P van de Warrenburg, M A Willemsen. J Neurol 2014
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Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
11
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
Anette Ramm-Pettersen, Karl O Nakken, Inger M Skogseid, Hans Randby, Erik B Skei, Laurence A Bindoff, Kaja K Selmer. Dev Med Child Neurol 2013
Anette Ramm-Pettersen, Karl O Nakken, Inger M Skogseid, Hans Randby, Erik B Skei, Laurence A Bindoff, Kaja K Selmer. Dev Med Child Neurol 2013
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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
J Klepper, H Scheffer, B Leiendecker, E Gertsen, S Binder, M Leferink, C Hertzberg, A Näke, T Voit, M A Willemsen. Neuropediatrics 2005
11
Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
35
Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement.
Juan M Pascual, Peiying Liu, Deng Mao, Dorothy I Kelly, Ana Hernandez, Min Sheng, Levi B Good, Qian Ma, Isaac Marin-Valencia, Xuchen Zhang,[...]. JAMA Neurol 2014
Juan M Pascual, Peiying Liu, Deng Mao, Dorothy I Kelly, Ana Hernandez, Min Sheng, Levi B Good, Qian Ma, Isaac Marin-Valencia, Xuchen Zhang,[...]. JAMA Neurol 2014
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Autosomal recessive inheritance of GLUT1 deficiency syndrome.
J Klepper, H Scheffer, M F Elsaid, E-J Kamsteeg, M Leferink, T Ben-Omran. Neuropediatrics 2009
J Klepper, H Scheffer, M F Elsaid, E-J Kamsteeg, M Leferink, T Ben-Omran. Neuropediatrics 2009
30
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
Yasushi Ito, Satoru Takahashi, Kuriko Kagitani-Shimono, Jun Natsume, Keiko Yanagihara, Tatsuya Fujii, Hirokazu Oguni. Brain Dev 2015
Yasushi Ito, Satoru Takahashi, Kuriko Kagitani-Shimono, Jun Natsume, Keiko Yanagihara, Tatsuya Fujii, Hirokazu Oguni. Brain Dev 2015
43
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi,[...]. Seizure 2015
Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi,[...]. Seizure 2015
45
Paroxysmal eye-head movements in Glut1 deficiency syndrome.
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo. Neurology 2017
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo. Neurology 2017
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Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
12
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd,[...]. Mov Disord 2016
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd,[...]. Mov Disord 2016
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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
10
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
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
9
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
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
9
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
S A Mullen, A Suls, P De Jonghe, S F Berkovic, I E Scheffer. Neurology 2010
9
GLUT1 deficiency syndrome: an update.
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel. Rev Neurol (Paris) 2014
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel. Rev Neurol (Paris) 2014
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Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet.
Jörg Klepper. Epilepsia 2008
Jörg Klepper. Epilepsia 2008
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ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.
Abhimanyu Mahajan, Jules Constantinou, Christos Sidiropoulos. J Neurol 2017
Abhimanyu Mahajan, Jules Constantinou, Christos Sidiropoulos. J Neurol 2017
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A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.
Yasushi Ito, Hirokazu Oguni, Susumu Ito, Miyako Oguni, Makiko Osawa. Dev Med Child Neurol 2011
Yasushi Ito, Hirokazu Oguni, Susumu Ito, Miyako Oguni, Makiko Osawa. Dev Med Child Neurol 2011
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A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
8
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
8
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
Juan M Pascual, Ronald L Van Heertum, Dong Wang, Kristin Engelstad, Darryl C De Vivo. Ann Neurol 2002
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
Jan Larsen, Katrine Marie Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibaek, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu,[...]. Epilepsia 2015
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
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Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
M Demirkiran, J Jankovic. Ann Neurol 1995
8
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
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
8
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.