Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
阵发性运动诱发性运动障碍和癫痫是由编码葡萄糖转运蛋白GLUT1的SLC2A1基因突变引起的。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awn113
Suls, Arvid; Dedeken, Peter; Goffin, Karolien; Van Esch, Hilde; Dupont, Patrick; Cassiman, David; Kempfle, Judith; Wuttke, Thomas V; Weber, Yvonne; Lerche, Holger; Afawi, Zaid; Vandenberghe, Wim; Korczyn, Amos D; Berkovic, Samuel F; Ekstein, Dana; Kivity, Sara; Ryvlin, Philippe; Claes, Lieve R F; Deprez, Liesbet; Maljevic, Snezana; Vargas, Alberto; Van Dyck, Tine; Goossens, Dirk; Del-Favero, Jurgen; Van Laere, Koen; De Jonghe, Peter; Van Paesschen, Wim