A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene
To the best of our knowledge, this is the first report of ULD in the large Chinese population. By comparison with homozygous promoter expansions, we found an earlier age of first symptom onset and more refractory BTCS of ULD patients with compound or homozygous point/indel variants.
Authors
- Baorong Zhang (ORCID: https://orcid.org/0000-0002-8099-7407)
- Zhiying Wu (ORCID: https://orcid.org/0000-0003-4633-0008)
- Zhidong Cen (ORCID: https://orcid.org/0000-0003-3155-5781)
- Wei Luo (ORCID: https://orcid.org/0000-0001-6951-7698)
- Meiping Ding (ORCID: https://orcid.org/0000-0003-3145-7778)
- Yulan Chen
- Shuang Wang (ORCID: https://orcid.org/0000-0002-8245-0464)
- Pu Miao (ORCID: https://orcid.org/0000-0001-5165-2613)
- Yao Ding (ORCID: https://orcid.org/0000-0001-9533-8845)
Institutions
- Second Affiliated Hospital of Zhejiang University (CN)
Publication Details
- Journal
- Acta Epileptologica
- Published
- 2025-05-29
- DOI
- https://doi.org/10.1186/s42494-025-00216-4
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- National Outstanding Youth Science Fund Project of National Natural Science Foundation of China