在一系列神经发育障碍中的皮层视觉障碍:临床特征,诊断工具评估和与发育结果的关联

Megan Abbott1,2, Katie Angione1,2, Megan Stringfellow3

  • 1Precision Medicine Institute, Children's Hospital Colorado, Anschutz Medical Campus, Aurora, CO, USA.

PubMed
概括

皮层视觉障碍影响44%患有某些神经遗传障碍的儿童,特别是STXBP1和8p相关的疾病. 通过CDKL5-临床严重性评估等工具进行早期检测对于更好的发育结果至关重要.

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