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A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease

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Data availability

The data used and analyzed during the current study are available from the corresponding author on request.

References

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Acknowledgements

We would like to thank the family for their participation in this study.

Funding

This work was supported by the Project from Zhejiang Provincial Medical and Health Science and Technology Program (2021433847), China.

Author information

Authors and Affiliations

  1. Department of Neurology, Lishui People’s Hospital, Lishui, 323000, Zhejiang, China

    Yingbiao Zhu

  2. Department of Endocrinology, Lishui People’s Hospital, Lishui, 323000, Zhejiang, China

    Changrong Guan

  3. Department of Pathology, Guangzhou KingMed Laboratory Center, Guangzhou, 510330, Guangdong, China

    Zichang Yin

  4. Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China

    Kang Wang & Caihong Ji

Authors
  1. Yingbiao Zhu
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  2. Changrong Guan
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  3. Zichang Yin
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  4. Kang Wang
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  5. Caihong Ji
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Contributions

YZ and CJ designed this study. YZ, CG, CJ, and KW were responsible for diagnosis and clinical evaluation. ZY performed pathological analysis. YZ and CJ performed a genetic analysis. YZ analyzed EEG data. YZ and CJ wrote the manuscript. All authors read and approved the final version of the manuscript.

Corresponding author

Correspondence to Caihong Ji.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval and consent to participate

Informed consent was obtained from the patients to publish this case, and approval for this study was provided by the ethics committee of the First Affiliated Hospital of Zhejiang University, School of Medicine.

Consent for publication

The patients signed informed consent regarding publishing their data. Copies of the written consent are available for review by the editor of this journal.

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Zhu, Y., Guan, C., Yin, Z. et al. A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease. Acta Neurol Belg (2024). https://doi.org/10.1007/s13760-024-02500-5

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  • DOI: https://doi.org/10.1007/s13760-024-02500-5

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