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Updated: May 13, 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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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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在LMAN2L中出现的新型化合物异构基突变会导致幼儿期耐火性

Teng Wang1, Yan Gao1, Yuhan Yan1

  • 1Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, China.

Italian journal of pediatrics
|April 12, 2025
PubMed
概括

新的LMAN2L基因变异导致婴儿严重智力障碍和耐药性. 这项研究确定了两种与早期发作的和发育迟缓相关的新型化合物异合体变异,扩大了已知的LMAN2L突变谱.

关键词:
这就是LMAN2L.性脑病变 (Epileptic Encephalopathy) 是一种发生在脑中的疾病.智力障碍 智力障碍是一种智力障碍.在MRT52中,我们可以看到MRT52的位置.

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