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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.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Terbeek J, Hermans S, Van Laere K, Vandenberghe W. Terbeek J, et al. Among authors: vandenberghe w. Brain. 2015 May;138(Pt 5):e350. doi: 10.1093/brain/awu324. Epub 2014 Nov 28. Brain. 2015. PMID: 25433916 Free PMC article. No abstract available.
179 results