Disease burden in genetic epilepsies – five things to know

Title: Disease burden in genetic epilepsies – five things to know

Affiliation: Children’s Hospital of Philadelphia (CHOP), USA

Authors: Ingo Helbig

Reference: epilepsygenetics.net/2022/04/16/disease-burden-in-genetic-epilepsies-five-things-to-know/

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

Summary: This blog post, written for Beyond the Ion Channel, summarises a recent study which looked at quality of life and assessing to what degree seizure control and quality of life in developmental and epileptic encephalopathies (DEEs) are related. 

The main finding of the study was that seizure control and quality of life were not related. However, there was a relationship between the number of days that were minimally disrupted by seizures and quality of life (QoL). 

The authors listed 5 main findings from the study: 

  1. We can measure QoL in DEEs
  2. Seizure control is unrelated to QoL
  3. Frequency of days disrupted by seizures is associated with Qol
  4. Individuals with DEE have lower QoL scores than other neurodevelopmental disorders
  5. QoL is not static, but depends on community factors and medication side effects