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Updated: Jun 24, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Advances in big data and omics: Paving the way for discovery in childhood epilepsies
Jan Magielski1, Ian McSalley1, Shridhar Parthasarathy2
1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.
Abstract:
The insights gained from big data and omics approaches have transformed the field of childhood genetic epilepsy. With an increasing number of individuals receiving genetic testing for seizures, we are provided with an opportunity to identify clinically relevant subgroups and extract meaningful observations from this large-scale clinical data. However, the volume of data from electronic medical records and omics (e.g., genomics, transcriptomics) is so vast that standardized methods, such as the Human Phenotype Ontology, are necessary for reliable and comprehensive characterization. Here, we explore the integration of clinical and omics data, highlighting how these approaches pave the way for discovery in childhood epilepsies.
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