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新生儿过度复杂症中的新型GLRB突变与不同的EEG发现:一个案例系列

Motaz Tamimi1,2, Majd Oweidat1, Hamza Atawneh1

  • 1College of Medicine, Hebron University, Hebron, West Bank, Palestine.

Annals of medicine and surgery (2012)
|May 8, 2025
PubMed
概括

遗传性超重复症 (HKPX) 是一种罕见的神经遗传性疾病. 我们在两个患有HKPX2的新生儿中发现了一种新的GLRB突变,突出显示了这种情况的遗传和EEG变异性.

关键词:
美国GLRBGLRB一系列的案例系列.过度复杂症 (hyperekplexia) 是一种过度复杂症.发作 发作 发作惊的反射反应开始.

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