References
Bhatia KP (1999) The paroxysmal dyskinesias. J Neurol 246:149–155
Guimaraes J, Vale Santos J (2000) Paroxysmal dystonia induced by exercise and acetazolamide. Eur J Neurol 7:237–240
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
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
Strupp M, Zwergal A, Brandt T (2007) Episodic ataxia type 2. Neurotherapeutics 4:267–273
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
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
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
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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