This issue of Epilepsy Research News includes summaries of articles on:
- CURE Epilepsy’s Team Science Post-Traumatic Epilepsy (PTE) Initiative: Approach and Advances
- Genetic Mutations Contributing to Adult Epilepsy
- Improving Seizure Freedom After Epilepsy Surgery
- Predictors of Epilepsy in Children with Complex Febrile Seizures
CURE Epilepsy’s Team Science Post-Traumatic Epilepsy (PTE) Initiative: Approach and Advances
CURE Epilepsy’s PTE Initiative united six preclinical and clinical research teams to form a consortium focused on improving ways to study PTE in a laboratory setting, understanding changes in the brain that occur after a traumatic brain injury (TBI) that lead to PTE, and uncovering risk factors associated with the development of PTE. PTE is a debilitating type of epilepsy that can develop in the months or even years following a TBI. Currently, there is no way to predict who will develop PTE or any way to prevent it. A recently published paper from the PTE Initiative describes scientific advances from CURE Epilepsy’s PTE Initiative, as well as its methods, implementation, and emphasis on team science and collaboration. Work on the PTE Initiative is ongoing, with the ultimate goal of understanding who is at risk for PTE, and laying the groundwork for the development of ways to prevent it from occurring. This work was supported by the Office of the Assistant Secretary of Defense for Health Affairs, through the Psychological Health and Traumatic Brain Injury Research Program under Award No. W81XWH-15-2-0069.
Genetic Mutations Contributing to Adult Epilepsy
A recent study sheds new light on the role of changes in DNA known as somatic mutations in patients who develop mesial temporal lobe epilepsy (MTLE). Unlike inherited DNA mutations, which are passed down from a person’s parents, somatic mutations occur after a person is conceived. To examine the role of somatic mutations, researchers analyzed DNA from brain tissue samples collected from 105 patients with drug-resistant MTLE as well as 30 people who did not have epilepsy. The team pinpointed 11 somatic mutations that were enriched in the hippocampus (the region of the brain where seizures typically originate in MTLE) of 11 patients with drug-resistant MTLE. All but one of the 11 mutations were connected to a specific genetic pathway known as the RAS/MAPK pathway. The researchers noted that certain anti-cancer drugs target this pathway, opening a new avenue of therapeutic possibilities for MTLE patients that are resistant to antiseizure medications. In addition to suggesting a potential path to treatment, the findings could also be used to help inform treatment decisions for patients who harbor these somatic mutations.
Improving Seizure Freedom After Epilepsy Surgery
A network of connections in the brain could be the key to improving frontal lobe epilepsy surgery, according to new research. This research suggests that disconnecting certain pathways in the frontal lobe could lead to longer-lasting seizure freedom after brain surgery. These pathways link the frontal lobe to brain structures deep in the brain, including areas called the thalamus and striatum. The researchers analyzed the cases of 47 people who underwent surgery for drug-resistant frontal lobe epilepsy and found that disconnection of these pathways was associated with seizure freedom after three and five years. The research found that this surgery also did not have negative effects on language or executive functions like planning, self-control, and focus. However, other functions, such as mood and emotions, still need to be studied. These findings provide hope that disconnection could lead to improved outcomes and long-term seizure freedom in people with frontal lobe epilepsy.
Predictors of Epilepsy in Children with Complex Febrile Seizures
Four predictors of future epilepsy in children with complex febrile seizures (CFS) have been identified in a recently published study. These include experiencing more than three febrile seizures in 24 hours, a certain type of brain activity seen on a post-CFS electroencephalogram (EEG), a family history of seizures not associated with fever, and CFS onset at age three or later. The researchers retrospectively examined 621 children and found that having all four risk factors raised the risk of developing epilepsy to over 75%. The researchers noted that early identification of children who will develop epilepsy after a CFS is essential to future management and counseling for parents and caregivers.