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Updated: Jul 13, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Insights
Epilepsy, a neurological disorder, often begins in infancy and can be difficult to treat. Genetic discoveries are revolutionizing epilepsy treatment through precision medicine.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Epilepsies are neurological disorders characterized by recurrent seizures, affecting individuals across all age groups.
- A significant portion of epilepsies (one-third) are refractory to conventional antiseizure medications.
- Epilepsy incidence shows a notable peak in neonates and infants, highlighting the importance of early-onset forms.
Conclusions:
- Genetic insights are transforming the diagnosis and management of early-onset epilepsies.
- Precision medicine, driven by genetic discoveries, offers improved therapeutic outcomes for epilepsy.
- Continued research into genetic etiologies is vital for advancing epilepsy care in infants and children.
Abstract:
Epilepsies are a diverse group of neurological disorders characterized by recurrent seizures. One-third of epilepsies are refractory to standard antiseizure medications. Epilepsy incidence is age-dependent with high incidence in neonates and infants. Epilepsy syndromes are classified based on clinical, electrographic, neuroimaging, age-dependent features of onset and the possibility of remission. Advances in genetic testing technology and improved access to clinical genetic testing, including whole exome sequencing, have facilitated a fundamental shift in gene discovery of monogenetic and polygenetic epilepsy, leading to precision medicine therapy and improved outcomes. Here, we review the self-limited epilepsy syndromes and developmental and epileptic encephalopathies that begin in the neonatal-infantile period with an emphasis on genetic etiology and the shifting landscape of treatment options based on genetic findings. [.
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