| 摘要: |
| ［摘要］ 该文对DMXL2基因突变引起大田原综合征1例进行报道。 |
| 关键词: 大田原综合征 DMXL2基因 基因突变 惊厥发作 |
| DOI：10.3969/j.issn.1674-3806.2025.11.18 |
| 分类号:R 742.1 |
| 基金项目: |
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| A case of Ohtahara syndrome caused by DMXL2 gene mutation |
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KANG Xi, GAO Shuqiang
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Chengdu Women′s and Children′s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 611731, China
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| Abstract: |
| ［Abstract］ This paper reports a case of Ohtahara syndrome caused by DMXL2 gene mutation. |
| Key words: Ohtahara syndrome DMXL2 gene Gene mutation Convulsive seizure |
