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Updated: Jul 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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一种新的HCN2功能丧失变异,导致发育性和性脑病变,用性饮食治疗

Jacopo C DiFrancesco1, Francesca Ragona2, Carmen Murano3

  • 1Department of Neurology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.

Epilepsia
|September 25, 2023
PubMed
概括

一种新的HCN2基因变异导致发育性和性脑病变 (DEE). 这项研究详细介绍了一名由于新的HCN2突变而患有DEE的患者,强调了性饮食.

关键词:
在 HCN2 的情况下.发育性和性脑病变 (DEE)是一种.基因饮食是什么 基因饮食是什么功能丧失 - 功能丧失下一代测序 (NGS) 是指下一代的测序.

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