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

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References

  1. Bhatia KP (1999) The paroxysmal dyskinesias. J Neurol 246:149–155

    Article  CAS  PubMed  Google Scholar 

  2. Guimaraes J, Vale Santos J (2000) Paroxysmal dystonia induced by exercise and acetazolamide. Eur J Neurol 7:237–240

    Article  CAS  PubMed  Google Scholar 

  3. Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC (2010) The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 25:275–281

    Article  PubMed  Google Scholar 

  4. Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP (2009) GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 24:1684–1688

    Article  PubMed  Google Scholar 

  5. Strupp M, Zwergal A, Brandt T (2007) Episodic ataxia type 2. Neurotherapeutics 4:267–273

    Article  CAS  PubMed  Google Scholar 

  6. Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W (2008) Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131:1831–1844

    Article  PubMed  Google Scholar 

  7. Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC (2008) Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr Res 64:538–543

    Article  CAS  PubMed  Google Scholar 

  8. Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Munchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118:2157–2168

    CAS  PubMed  Google Scholar 

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Correspondence to Mathieu Anheim.

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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 258, 316–317 (2011). https://doi.org/10.1007/s00415-010-5702-5

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  • DOI: https://doi.org/10.1007/s00415-010-5702-5

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