Scholarlink

<p>Here we present a case of Dravet syndrome in which a novel heterozygous deletion involving the promoter region of the <i>SCN1A</i> gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This microdeletion is believed to reduce <i>SCN1A</i> transcription, leading to haploinsufficiency. This case highlights the importance of early genetic analysis, including that of promoter regions, before the diagnostic criteria are met for the induction of specific treatments.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月3日

查看全文
  • Eri Nakahara Sakamoto,
  • Shino Shimada,
  • Tokito Yamaguchi,
  • Tomoya Ishida,
  • Katsumi Imai,
  • Hidetaka Eguchi,
  • Yasushi Okazaki,
  • Masami Arai

摘要

Here we present a case of Dravet syndrome in which a novel heterozygous deletion involving the promoter region of the SCN1A gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This microdeletion is believed to reduce SCN1A transcription, leading to haploinsufficiency. This case highlights the importance of early genetic analysis, including that of promoter regions, before the diagnostic criteria are met for the induction of specific treatments.