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Updated: Jul 2, 2025

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在1018名患有SCN1A相关的人群中,基因型-表型关联

Declan Gallagher1,2, Eduardo Pérez-Palma3,4, Tobias Bruenger4

  • 1School of Health and Wellbeing, University of Glasgow, Glasgow, UK.

Epilepsia
|February 27, 2024
PubMed
概括

在SCN1A的遗传变异导致综合征,如德拉维特综合征 (DS) 和遗传性发烧发作加 (GEFS+). 变异的位置和类型会影响发作发作和表型,帮助早期诊断.

关键词:
这就是SCN1A.德拉维特综合征是什么?德拉维特综合征是什么在GEFS+的基础上,GEFS+基因型表型协会 基因型表型协会婴儿时期的严重肌性.

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