日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A functional null mutation of SCN1B in a patient with Dravet syndrome

Dravet综合征患者中发现SCN1B功能性无义突变。

Patino, Gustavo A; Claes, Lieve R F; Lopez-Santiago, Luis F; Slat, Emily A; Dondeti, Raja S R; Chen, Chunling; O'Malley, Heather A; Gray, Charles B B; Miyazaki, Haruko; Nukina, Nobuyuki; Oyama, Fumitaka; De Jonghe, Peter; Isom, Lori L

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。

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