ArticleFrontiers in neuroscience2025
Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases.
Article in Frontiers in neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.International journal of molecular sciences · 2026Review
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7 authors.
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Abstract
Objective: To summarize the clinical characteristics of eight children with DEPDC5 gene variant-associated epilepsy. Methods: Clinical data of children with DEPDC5-related epilepsy treated at Hebei Provincial Children's Hospital from April 2020 to November 2024 were retrospectively analyzed. Results: Among the 8 children (5 males, 3 females), age of onset ranged from 1 year 4 months to 9 years 3 months. Genetic analysis revealed 6 missense mutations, 1 code-shift mutation, and 1 large segment deletion, including 1 Conclusion: 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.
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