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<p>We report a child with severe developmental and epileptic encephalopathy carrying a rare <i>SCN8A</i> splice‑site variant. Although its pathogenicity was initially unclear, a minigene assay demonstrated aberrant splicing, indicating a loss‑of‑function mechanism. Integrated clinical, genetic and functional evidence classified the variant as pathogenic, underscoring the importance of splicing assays for interpreting rare <i>SCN8A</i> variants.</p>

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Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月29日

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  • Takashi Shibata,
  • Tomoyuki Akiyama,
  • Takuma Harasaki,
  • Sachiko Miyamoto,
  • Hirotomo Saitsu,
  • Toshiki Takenouchi

摘要

We report a child with severe developmental and epileptic encephalopathy carrying a rare SCN8A splice‑site variant. Although its pathogenicity was initially unclear, a minigene assay demonstrated aberrant splicing, indicating a loss‑of‑function mechanism. Integrated clinical, genetic and functional evidence classified the variant as pathogenic, underscoring the importance of splicing assays for interpreting rare SCN8A variants.