Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies

Title: Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies

Affiliation: McGill University and University of Melbourne

Authors: Kenneth Myers and Ingrid Scheffer

Reference: Annu Rev Pharm Toxicol 2022;62:641-662

We thank Dr David Cunnington for providing us with a summary of this work.


What was this article about? 

This paper is a review of precision medicine approaches for developmental and epileptic encephalopathies (DEEs). Review papers give experts in an area the opportunity to summarise research and current practice, so are very helpful papers to read for comprehensive updates on a topic. Review papers like this are also carefully referenced so are a great way of finding other research papers on particular topics. This review quotes 143 references.

What are the main points? 

There are a number of key points raised in this article: 

  • In children presenting with DEE symptoms, over 50% can have a genetic diagnosis made
  • Identifying the gene mutation allows a precision medicine approach to treatment, choosing treatments that have been shown to be more effective for that specific condition
  • The authors listed examples for a range of DEEs that are shown in table 1 from the article below 
  • Specific gene therapy approaches are also in development for a number of DEEs and these are discussed in the article