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<p>De novo <i>KCNA3</i> variants cause a Developmental and Epileptic Encephalopathy (DEE). We describe a 14-year-old boy presenting with DEE and carrying a heterozygous <i>de novo KCNA3</i> (NM_002232.4) variant (c.1433T&gt;A, p.Val478Glu) and an inherited <i>KCNQ3</i> (NM_004519.3) variant (c.1720C&gt;T, p.Pro574Ser). Human dermal fibroblasts (HDFs) were isolated from the patient and an age-matched control. <i>KCNA</i>3 and <i>KCNQ3</i> transcript levels were quantified by qRT-PCR, showing in patient-HDFs a reduction of 77% and 40%, respectively (<i>p</i> &lt; 0.0001; <i>p</i> = 0.0002). Western blot confirmed decreased KCNA3 and KCNQ3 protein levels by 50% and 35%, respectively (<i>p</i> &lt; 0.05). The contributing role of both variants supports the rationale for a channel-targeted treatment strategy.</p>

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A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies

  • 期刊论文

  • 发表日期：

    2026年1月30日

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  • Enrica Marchionni,
  • Vito Luigi Colona,
  • Emanuele Agolini,
  • Michela Murdocca,
  • Monia Russo,
  • Maria Stellato,
  • Valeria Latini,
  • Elena Campione,
  • Anna Maria Nardone,
  • Paola Spitalieri,
  • Luigi Mazzone,
  • Antonio Novelli,
  • Federica Sangiuolo,
  • Giuseppe Novelli

摘要

De novo KCNA3 variants cause a Developmental and Epileptic Encephalopathy (DEE). We describe a 14-year-old boy presenting with DEE and carrying a heterozygous de novo KCNA3 (NM_002232.4) variant (c.1433T>A, p.Val478Glu) and an inherited KCNQ3 (NM_004519.3) variant (c.1720C>T, p.Pro574Ser). Human dermal fibroblasts (HDFs) were isolated from the patient and an age-matched control. KCNA3 and KCNQ3 transcript levels were quantified by qRT-PCR, showing in patient-HDFs a reduction of 77% and 40%, respectively (p < 0.0001; p = 0.0002). Western blot confirmed decreased KCNA3 and KCNQ3 protein levels by 50% and 35%, respectively (p < 0.05). The contributing role of both variants supports the rationale for a channel-targeted treatment strategy.