Literature DB >> 24487825

Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report.

Francesca Baschieri1, Amit Batla, Roberto Erro, Christos Ganos, Carla Cordivari, Kailash P Bhatia.   

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Year:  2014        PMID： 24487825     DOI： 10.1007/s00415-014-7250-x

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


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  9 in total

1.  Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis.

Authors:  Michael H Barnett; Paul R Jarman; Simon J R Heales; Kailash P Bhatia
Journal:  Mov Disord       Date:  2002-11       Impact factor: 10.338

Review 2.  Paroxysmal dyskinesias.

Authors:  Kailash P Bhatia
Journal:  Mov Disord       Date:  2011-05       Impact factor: 10.338

Review 3.  Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature.

Authors:  K P Bhatia; V L Soland; M H Bhatt; N P Quinn; C D Marsden
Journal:  Mov Disord       Date:  1997-11       Impact factor: 10.338

4.  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

5.  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

6.  Paroxysmal dyskinesias: clinical features and classification.

Authors:  M Demirkiran; J Jankovic
Journal:  Ann Neurol       Date:  1995-10       Impact factor: 10.422

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.  Research into the (Cost-) effectiveness of the ketogenic diet among children and adolescents with intractable epilepsy: design of a randomized controlled trial.

Authors:  Reina J A de Kinderen; Danielle A J E Lambrechts; Debby Postulart; Alfons G H Kessels; Jos G M Hendriksen; Albert P Aldenkamp; Silvia M A A Evers; Marian H J M Majoie
Journal:  BMC Neurol       Date:  2011-01-25       Impact factor: 2.474

9.  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
  9 in total
  4 in total

Review 1.  Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.

Authors:  Ajith Cherian; Naveen Kumar Paramasivan; K P Divya
Journal:  Acta Neurol Belg       Date:  2021-01-16       Impact factor: 2.396

Review 2.  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

3.  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

4.  Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

Authors:  Woong-Woo Lee; Beomseok Jeon; Ryul Kim
Journal:  J Korean Med Sci       Date:  2018-05-24       Impact factor: 2.153
  4 in total

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