Citations for
1DYT18, DYT9, SLC2A1
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H.
Neurology 77(10):959-64. Epub 2011 Aug 10. 2011
2DYT18, SLC2A1
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
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, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H.
J Clin Invest 118(6):2157-68. 2008
3DYT18, SLC2A1
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.
Münchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, Quinn NP, Schapira AH, Wood NW, Bhatia KP.
J Neurol Neurosurg Psychiatry 68(5):609-14. 2000