致病性变体的透率很低,并由共同的遗传背景形成

Remi Stevelink1,2, M Martijn Piet1,2, Yorgos Bos2

  • 1Department of Child Neurology, University Medical Center Utrecht, member of European Reference Network EpiCARE, Utrecht, the Netherlands.

Epilepsia
|November 14, 2025
PubMed
概括

发育性脑病变 (DEE) 的变异透率低于之前的假设. 多原风险得分 (PRS) 改变风险,高PRS增加了致病变体携带者的严重风险.

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