Epilepsy Society research published in Brain Communications Journal

A study conducted by a team of researchers from the Epilepsy Society, including Professor Sanjay Sisodiya and Angeliki Vakrinou has been published in the Brain Communications Journal. The study explores the genetics of rare epilepsies including Dravet Syndrome.

We spoke to Angeliki about the study: 

“The study focused on a group of severe epilepsies called developmental and epileptic encephalopathies (DEEs). These are rare, complex conditions that often begin in childhood, causing seizures as well as developmental challenges and other health issues. Thanks to genetic testing, we now know that many DEEs are linked to changes in specific genes—over 800 genes so far—but we still don’t understand how these conditions evolve over a lifetime.

In this research, we studied a group of adults with genetic DEEs, collecting detailed information about their health, seizures, and other symptoms. Our aim is to shed light on what these conditions look like in adulthood and how they change over time. By better understanding the long-term outcomes of DEEs, we hope to help families and doctors plan for the future and improve care for people diagnosed with these conditions today. 

 DEEs have historically been seen as childhood conditions because they cause severe symptoms early in life. However, advancements in care mean that many people with these conditions now live into adulthood. Yet, we know very little about what happens as they grow older. At our epilepsy genomics outpatient clinic here at the Chalfont Centre, we see many adults with these conditions from across the UK. This research was prompted by the need to better understand adult outcomes so that care can be tailored for people with DEEs at every age.

Our study showed that DEEs in adulthood can look different from how they’re described in childhood. While the majority of people continue to have severe seizures, others become seizure-free or have milder symptoms. However, even when seizures are controlled, many people face other enduring challenges, such as cognitive difficulties or health problems related to their condition.

We also found that even when a genetic diagnosis is delayed, it can still provide valuable insights, including guidance on treatment options. These findings highlight the need for early, targeted care and a holistic approach that goes beyond just managing seizures.

The ultimate goal is to determine how this information can be used in a clinical setting. For example, we hope to identify genetic markers that can guide personalised treatment plans, improve early diagnosis, and help predict long-term outcomes for the epilepsy or other accompanying conditions. While there’s still work to do, these efforts bring us closer to integrating genetic insights into routine epilepsy care, benefiting both children and adults with these conditions.”

You can read the article here.