ArticlePractical laboratory medicine2025
Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants.
Article in Practical laboratory medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Review
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- Seizures, increased interhemispheric synchrony, altered brain transcriptomics and a leaky blood-brain barrier result from loss ofFrontiers in neurologyArticle
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Authors and funding
5 authors.
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Abstract
Background: Epilepsy encompasses a range of brain disorders, often accompanied by growth delay and cerebral palsy. The identification of gene variants is critical for guiding treatment strategies in patients with epilepsy. This study investigates the genetic variants in patients with early-onset epilepsy (EOE) through whole-exome sequencing (WES). Materials and methods: DNA was extracted from peripheral blood using a standard salting-out method. Gene variants were identified using WES, and sequencing data were analyzed through a two-step approach. Results: Among 20 subjects, WES identified two novel variants. The first variant, Conclusion: This study highlights the value of WES in identifying genetic variants associated with epilepsy, particularly the novel AP3B2 and PIGB variants. By focusing on these impactful findings, the study advances understanding of epilepsy genetics and emphasizes the role of WES in enabling early diagnosis, personalized treatment, and improved management strategies.
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