Literature DB >> 20830593

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.

Mathieu Anheim, Elisabeth Maillart, Sandrine Vuillaumier-Barrot, Constance Flamand-Rouvière, Fanny Pineau, Claire Ewenczyk, Florence Riant, Emmanuelle Apartis, Emmanuel Roze.   

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Year:  2010        PMID: 20830593     DOI: 10.1007/s00415-010-5702-5

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  8 in total

1.  Paroxysmal dystonia induced by exercise and acetazolamide.

Authors:  J Guimarães; J Vale Santos
Journal:  Eur J Neurol       Date:  2000-03       Impact factor: 6.089

Review 2.  The paroxysmal dyskinesias.

Authors:  K P Bhatia
Journal:  J Neurol       Date:  1999-03       Impact factor: 4.849

3.  GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

Authors:  Yvonne G Weber; Alexander Storch; Thomas V Wuttke; Knut Brockmann; Judith Kempfle; Snezana Maljevic; Lucia Margari; Christoph Kamm; Susanne A Schneider; Stephan M Huber; Arnulf Pekrun; Robert Roebling; Guiscard Seebohm; Saisudha Koka; Camelia Lang; Eduard Kraft; Dragica Blazevic; Alberto Salvo-Vargas; Michael Fauler; Felix M Mottaghy; Alexander Münchau; Mark J Edwards; Anna Presicci; Francesco Margari; Thomas Gasser; Florian Lang; Kailash P Bhatia; Frank Lehmann-Horn; Holger Lerche
Journal:  J Clin Invest       Date:  2008-06       Impact factor: 14.808

4.  GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Authors:  Susanne A Schneider; Coro Paisan-Ruiz; Ines Garcia-Gorostiaga; Niall P Quinn; Yvonne G Weber; Holger Lerche; John Hardy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2009-08-15       Impact factor: 10.338

Review 5.  Episodic ataxia type 2.

Authors:  Michael Strupp; Andreas Zwergal; Thomas Brandt
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

6.  Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Authors:  Dong Wang; Hong Yang; Lei Shi; Li Ma; Tatsuya Fujii; Kristin Engelstad; Juan M Pascual; Darryl C De Vivo
Journal:  Pediatr Res       Date:  2008-11       Impact factor: 3.756

7.  The spectrum of movement disorders in Glut-1 deficiency.

Authors:  Roser Pons; Abbie Collins; Michael Rotstein; Kristin Engelstad; Darryl C De Vivo
Journal:  Mov Disord       Date:  2010-02-15       Impact factor: 10.338

8.  Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Authors:  Arvid Suls; Peter Dedeken; Karolien Goffin; Hilde Van Esch; Patrick Dupont; David Cassiman; Judith Kempfle; Thomas V Wuttke; Yvonne Weber; Holger Lerche; Zaid Afawi; Wim Vandenberghe; Amos D Korczyn; Samuel F Berkovic; Dana Ekstein; Sara Kivity; Philippe Ryvlin; Lieve R F Claes; Liesbet Deprez; Snezana Maljevic; Alberto Vargas; Tine Van Dyck; Dirk Goossens; Jurgen Del-Favero; Koen Van Laere; Peter De Jonghe; Wim Van Paesschen
Journal:  Brain       Date:  2008-06-24       Impact factor: 13.501

  8 in total
  11 in total

1.  A Case of Progressive Chorea Resulting From GLUT1 Deficiency.

Authors:  Ichraf Kraoua; Hanene Benrhouma; Sandrine Vuillaumier-Barrot; Hedia Klaa; Ilhem Ben Youssef-Turki
Journal:  Mov Disord Clin Pract       Date:  2015-08-18

2.  Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome.

Authors:  Pierangelo Veggiotti; Valentina De Giorgis
Journal:  Curr Treat Options Neurol       Date:  2014-05       Impact factor: 3.598

3.  Crystal structure of the human glucose transporter GLUT1.

Authors:  Dong Deng; Chao Xu; Pengcheng Sun; Jianping Wu; Chuangye Yan; Mingxu Hu; Nieng Yan
Journal:  Nature       Date:  2014-05-18       Impact factor: 49.962

Review 4.  Genetic updates on paroxysmal dyskinesias.

Authors:  James Y Liao; Philippe A Salles; Umar A Shuaib; Hubert H Fernandez
Journal:  J Neural Transm (Vienna)       Date:  2021-04-30       Impact factor: 3.575

5.  Severe familial paroxysmal exercise-induced dyskinesia.

Authors:  Pawel Tacik; Sebastian Loens; Christoph Schrader; Sabine Gayde-Stephan; Saskia Biskup; Dirk Dressler
Journal:  J Neurol       Date:  2014-08-07       Impact factor: 4.849

Review 6.  Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Authors:  Toni S Pearson; Cigdem Akman; Veronica J Hinton; Kristin Engelstad; Darryl C De Vivo
Journal:  Curr Neurol Neurosci Rep       Date:  2013-04       Impact factor: 5.081

Review 7.  Episodic movement disorders: from phenotype to genotype and back.

Authors:  Knut Brockmann
Journal:  Curr Neurol Neurosci Rep       Date:  2013-10       Impact factor: 5.081

8.  Paroxysmal Nonepileptic Events in Glut1 Deficiency.

Authors:  Joerg Klepper; Baerbel Leiendecker; Christin Eltze; Nicole Heussinger
Journal:  Mov Disord Clin Pract       Date:  2016-07-08

9.  Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).

Authors:  Jasmin Nessler; Petra Hug; Paul J J Mandigers; Peter A J Leegwater; Vidhya Jagannathan; Anibh M Das; Marco Rosati; Kaspar Matiasek; Adrian C Sewell; Marion Kornberg; Marina Hoffmann; Petra Wolf; Andrea Fischer; Andrea Tipold; Tosso Leeb
Journal:  Genes (Basel)       Date:  2020-07-09       Impact factor: 4.096

Review 10.  Therapeutic strategies for glucose transporter 1 deficiency syndrome.

Authors:  Maoxue Tang; Sarah H Park; Darryl C De Vivo; Umrao R Monani
Journal:  Ann Clin Transl Neurol       Date:  2019-08-28       Impact factor: 4.511

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