Unlocking The Power of Genomics: Precision Medicine In Pediatric Epilepsy

Introduction : The recent advances in genomics had a paradigm shift in understanding the etiology of epilepsy . Encoding the genetic etiology helps in guiding the management . Our study focused on understanding the clinical course of children with pathogenic and likely pathogenic mutations( P/LP) and application of precision medicine .

Methodology : A Prospective observational study wherein children with refractory seizures with age of onset < 8 yrs or Developmental epileptic encephalopathy with no acquired causes with pathogenic and likely pathogenic variations were included. Their demographic profile , seizure control , developmental status and precision medicine tried, follow up at 1,3 and 6 months were studied from August 2021 to August 2023.

Results: 52 children were enrolled. 31 boys : 21 girls. Age of presentation were 27 children < 1year ,21 (1-5 years),4 > 5 years.17/52 precision medicine was possible ( Fig 1 and fig 2 ) . Upto 50% reduction of seizures with precision medicine after 6 months was seen in 7/17 (41%). Developmental status improved in 5/17 children with precision medicine(29.4%).

Conclusion : The identification of pathogenic and likely pathogenic mutations has provided valuable insights into the clinical course of affected children. Our findings highlight the promise of precision medicine in enhancing seizure control and improving developmental outcomes .These results emphasize the need for continued research and clinical application of genomic data to guide personalized management strategies in pediatric epilepsy, ultimately offering hope for better quality of life for these young patients and their families