CASE REPORT article
Front. Neurosci.
Sec. Neurodevelopment
Volume 19 - 2025 | doi: 10.3389/fnins.2025.1595667
This article is part of the Research TopicAdvances in epilepsy research: exploring biomarkers, brain stimulation, and neurosurgical interventions - Volume IIView all articles
Unraveling Clinical Heterogeneity in DEPDC5-Related Epilepsy: A Genotype-Phenotype Correlation Study in Eight Pediatric Cases
Provisionally accepted
- Hebei Provincial Children's Hospital, Shijiazhuang, China
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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 de novo and 7 hereditary mutations. Four children exhibited global developmental delay. Seizure types included generalized tonic-clonic (5 cases), tonic (1 case), and 2 forms of seizur es: tonic seizures and atonic seizures (2 cases). EEG showed abnormal discharges in all cases: focal (4 cases), multifocal (3 cases), and slow-wave (1 case). Brain MRI abnormalities were observed in 4 children, including delayed myelination, hyaloid septal cavities, and microgyrus malformation. Diagnoses included Lennox-Gastaut syndrome (4 cases) and self-limiting epilepsy with centrotemporal spikes (2 cases). Six children responded well to medication (seizure reduction >25%), while 2 had poor control. Conclusions 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.
Keywords: Epilepsy, gene mutation, inheritance, DEPDC5, phenotype
Received: 18 Mar 2025; Accepted: 12 Sep 2025.
Copyright: © 2025 Zhao, Chen, Feng, Yin and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Fang Chen, Hebei Provincial Children's Hospital, Shijiazhuang, China
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