Royal College of Surgeons in Ireland
Precision therapy in the genetic epilepsies of childhood..pdf (881.38 kB)

Precision therapy in the genetic epilepsies of childhood

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journal contribution
posted on 2021-07-27, 16:33 authored by Susan ByrneSusan Byrne, Noelle Enright, Norman DelantyNorman Delanty
Despite recent advances in both the understanding and treatment of the epilepsies, the rate of refractory epilepsy has remained static for many years. However, given our greater understanding of the aetiology and genetic basis of many paediatric and adult epilepsies, there is now scope to expand treatment. In this review, we discuss the current and potential use of precision medicine in the genetic epilepsies of childhood. We will discuss how optimal control and a reduction in the rate of refractory seizures using targeted therapy could be developed and assessed. We propose a six-tier approach to defining precision therapeutics in epilepsy and discuss how this can be incorporated into a clinical trial design. The lower tiers (1–2) represent therapies in common usage that we know work for certain epilepsy syndromes but do not precisely target the underlying problem. They work to reduce seizures but do not directly or effectively attenuate the developmental phenotype. The higher tiers (5–6) are currently purely speculative and look to a future with highly disease-specific therapies based on correction of underlying genomic and proteomic issues. In order to achieve this, scientists will have to embark on a ‘whole-omic’ approach to understand the underlying pathophysiology in order to design a precision therapy.



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Published Citation

Byrne S, Enright N, Delanty N. Precision therapy in the genetic epilepsies of childhood. Dev Med Child Neurol. 2021;63(11):1276-1282

Publication Date

9 June 2021

PubMed ID



  • Beaumont Hospital
  • FutureNeuro Centre
  • Paediatrics
  • School of Pharmacy and Biomolecular Sciences

Research Area

  • Neurological and Psychiatric Disorders




  • Published Version (Version of Record)