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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
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. Suls A, et al. Among authors: vandenberghe w. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
Freezing in Parkinson's disease: a spatiotemporal motor disorder beyond gait.
Vercruysse S, Spildooren J, Heremans E, Vandenbossche J, Levin O, Wenderoth N, Swinnen SP, Janssens L, Vandenberghe W, Nieuwboer A. Vercruysse S, et al. Among authors: vandenberghe w. Mov Disord. 2012 Feb;27(2):254-63. doi: 10.1002/mds.24015. Epub 2011 Oct 21. Mov Disord. 2012. PMID: 22020744
188 results