与ATP1A2相关的脑病变和运动障碍:三名新型患者的临床特征

Natalia Martínez Córdoba1, Isabella Lince-Rivera1, Jorge Luis Ramón Gómez2

  • 1Universidad Militar Nueva Granada, Bogotá, Colombia.

概括

致病性ATP1A2基因变异与早期婴儿发育性脑病变 (EIDEE) 与严重的神经功能障碍有关. 孟坦丁在一些患者中显示出中度改善,这表明NMDA受体对抗剂治疗的潜力.

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