Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication – a case report and literature review - Takeaways - MDSpire

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication – a case report and literature review

  • By

  • Yangfan Qi

  • Shuangzhu Lin

  • Ying Zhou

  • Yanzhi Chen

  • Xiaochun Feng

  • Kai Jiang

  • Jinhua Feng

  • May 14, 2026

  • 0 min

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  • 1

    Developmental and epileptic encephalopathy 7 (DEE7) is linked to mutations in the KCNQ2 gene, causing severe neurodevelopmental disorders.

  • 2

    A case study reports a 1 year 5 months female with DEE7 due to a de novo KCNQ2 deletion and a chromosome 13 duplication.

  • 3

    The patient experienced frequent seizures from the neonatal period, with severe global developmental delay confirmed by assessments.

  • 4

    Early targeted treatment led to complete seizure freedom and modest neurodevelopmental progress, highlighting the importance of intervention.

  • 5

    This case underscores the necessity of copy number variation analysis in genetic testing for epilepsy to inform prognosis and treatment.

Original Source(s)

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication – a case report and literature review

  • by Yangfan Qi, Shuangzhu Lin, Ying Zhou, Yanzhi Chen, Xiaochun Feng, Kai Jiang, Jinhua Feng

  • May 14, 2026

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