Neonatal epilepsies: Clinical management

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Neonatal seizures are frequently linked to acute brain injury but can also indicate neonatal-onset epilepsy due to genetic variants.
• Genetic defects causing epilepsy may disrupt cortical development, alter metabolism, or cause dysfunction without structural changes.
• Etiology is a critical factor influencing treatment response and long-term outcomes in neonatal seizures.

Purpose of the Study:

• To differentiate neonatal-onset epilepsies from acute symptomatic seizures.
• To highlight the role of etiology in determining outcomes.
• To review common neonatal-onset epilepsies and emphasize early diagnosis for precision medicine.

Main Methods:

• Review of literature on neonatal seizures and epilepsy etiologies.
• Analysis of electro-clinical phenotypes associated with specific genetic mutations (e.g., KCNQ2, KCNT1).
• Discussion of diagnostic approaches and precision medicine strategies.

Main Results:

• Neonatal-onset epilepsies have distinct genetic underpinnings that differ from acute symptomatic seizures.
• Specific genetic mutations present with pathognomonic electro-clinical phenotypes.
• Early recognition of these phenotypes facilitates targeted genetic testing.

Conclusions:

• Etiology is the primary determinant of outcome in neonatal seizures.
• Identifying genetic causes of neonatal epilepsy allows for precision medicine approaches.
• Early diagnosis and targeted treatment hold the potential for improved outcomes in neonatal-onset epilepsies.