Corrigendum to "A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome" [Seizure: Eur. J. Epilepsy 75 (2020) 1-6].
Corrigendum to "A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome" [Seizure: Eur. J. Epilepsy 75 (2020) 1-6].
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“Dravet 综合征儿童基因型-表型相关性的单中心回顾性分析”的勘误表 [癫痫发作：欧洲。
DOI：
10.1016/j.seizure.2020.04.004
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Laux,Linda
中科院分区：
文献类型：
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作者：
Gertler,TracyS;Calhoun,Jeffrey;Laux,Linda
提交人感到遗憾的是，补充表中报告的几个SCN1A型变种在图表报告中注释错误，并感谢HGMD编辑在更正这些变型时给予的协助。在结果部分，p.Ala1442Val应记为p.Ala1440Val，p.Phe1761Thrfs*8应记为p.Phe1671Thrfs*8。通过与SCN1a转录变体1(NM_001165963)的cDNARefSeq进行序列比对，更新的补充表(见附件)提供了对所有其他变体的适当更正。4)尽可能提供基因检测报告原件。
The authors regret that several of the SCN1A variants reported in the supplementary table were annotated incorrectly per chart reports, and appreciate the assistance of the HGMD editors in correcting these variants. In the Results section, p. Ala1442Val should be noted as p. Ala1440Val, and p. Phe1761Thrfs* 8 should be noted as p. Phe1671Thrfs* 8. Appropriate corrections to all other variants are provided in updated supplementary tables (see attachment) verified through sequence alignment to the cDNA RefSeq for transcript variant 1 of SCN1A (NM_001165963. 4) and original genetic testing reports wherever possible.