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Genetic epilepsies as a cause of seizures in Neonates

Adam L Numis1, Marie-Coralie Cornet2, Hannah C Glass3

  • 1Department of Neurology and Weill Institute for Neuroscience, University of California San Francisco, San Francisco, CA. USA; Department of Pediatrics, University of California San Francisco, San Francisco, CA. USA.

Seminars in Perinatology
|September 20, 2025
PubMed

Insights

Genetic epilepsies in newborns require specific management. Advances in genetic testing enable precise diagnosis, guiding targeted treatments like channel blockers and vitamin therapies for better outcomes.

Area of Science:

  • Neonatal Neurology
  • Clinical Genetics
  • Epileptology

Background:

  • Neonatal seizures are often linked to acute brain injuries, but genetic epilepsies represent a significant subgroup requiring specialized care.
  • Understanding the genetic basis of neonatal epilepsies is crucial for accurate diagnosis and effective treatment strategies.

Purpose of the Study:

  • To review current knowledge on neonatal-period epilepsies.
  • To highlight the diagnostic and therapeutic implications of genetic epilepsies in newborns.
  • To emphasize the role of advanced genetic testing in precision medicine for these conditions.

Main Methods:

  • Comprehensive literature review summarizing current research on neonatal epilepsies.
  • Analysis of advances in genetic testing technologies, including exome and genome sequencing.
  • Examination of treatment strategies based on specific genetic etiologies.

Main Results:

  • Genetic epilepsies are categorized into channelopathies, synaptopathies, inborn errors of metabolism, and brain malformations.
  • Specific therapies, such as sodium channel blockers, vitamin therapies, and dietary interventions, show efficacy in certain genetic epilepsies.
  • Rapid genetic sequencing facilitates timely diagnosis and precision treatment in critically ill neonates.

Conclusions:

  • Early identification of genetic epilepsies in neonates is critical for optimizing current care.
  • Precise diagnosis guides prognosis and therapeutic decisions, improving seizure control.
  • Despite advances, poor developmental outcomes highlight the need for disease-modifying therapies.

Keywords:
Anti-Seizure Medication (ASM)EEGElectroencephalogramEpilepsyHypoxic-ischemic encephalopathyNeonatal encephalopathyNeonatal seizuresNeurocritical careSeizure

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