Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype–phenotype correlation study in eight pediatric cases
DEPDC5 gene mutations result in diverse phenotypes, potentially influenced by age of onset and mutation type. Generalized seizures were most common, with high rates of EEG abnormalities and structural brain changes. In a few cases (3 cases), treatment with levetiracetam and phenobarbital can reduce the frequency of epileptic seizures by 25%, but due to limited sample size, its exact efficacy still needs further research and verification.
Authors
- Fan Feng (ORCID: https://orcid.org/0000-0003-1344-3727)
- Fang Chen (ORCID: https://orcid.org/0000-0003-4971-8729)
- Ying Li (ORCID: https://orcid.org/0000-0002-0025-3484)
- Bin Cao (ORCID: https://orcid.org/0000-0001-6991-0350)
- Liqun Yang (ORCID: https://orcid.org/0000-0002-6524-2639)
- Tong Zhao (ORCID: https://orcid.org/0000-0003-4119-7981)
- Jiaqi Yin
Institutions
- Hospital of Hebei Province (CN)
- Hebei General Hospital (CN)
- First Hospital of Shijiazhuang (CN)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2025-10-09
- DOI
- https://doi.org/10.3389/fnins.2025.1595667
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 1.61