February 15, 2022

Epilepsy Research News: February 2022

This month’s research news includes a study that sheds light on racial disparities in pediatric antiseizure medication (ASM) adherence, with study participants reporting issues such as running out of medication and access to pharmacies as barriers to medication adherence in Black children with epilepsy compared to White children.

We also report news suggesting that a newly developed gene therapy known as TANGO has promise in treating Dravet syndrome, based on a reduction in seizures in a mouse model.

Summaries from a study looking at memory in temporal lobe epilepsy and a study investigating optogenetics to increase seizure resistance are included below.

Finally, we highlight a study where regions of the genome linked to febrile seizures, including a region already associated with epilepsy, shed light on the genetic link between febrile seizures and epilepsy.

Information on these research discoveries are below.

Racial Disparities in Barriers to Epilepsy Medication Adherence: A recent study found that running out of medication and limited access to pharmacies disproportionally affect antiseizure medication (ASM) adherence in Black children with epilepsy compared to White children with epilepsy. The study included 226 caregivers and 43 adolescents with epilepsy and found that system- and community-level barriers influenced seizure outcomes in Black youth. The study’s authors state that there is a critical need to target larger systemic barriers to improve medication adherence for Black children with epilepsy. Learn more

Gene Therapy to Treat Dravet Syndrome: Dravet syndrome, a severe form of epilepsy, is most often caused by a mutation in the SCN1A gene that results in a reduction in the amount of the SCN1A protein. A gene therapy, known as TANGO (targeted augmentation of nuclear gene output), is now in clinical trials and is designed to boost production of SCN1A protein to normal levels. In a recent study, researchers confirmed that TANGO restored SCN1A protein levels, reduced seizures, and prolonged survival in a mouse model of Dravet syndrome. The authors are hopeful that a similar result will occur in humans with Dravet syndrome and suggest that the approach may also be useful in treating other forms of epilepsy caused by mutations in the SCN1A gene. Learn more

Epilepsy and Memory: New research suggests that people with temporal lobe epilepsy (TLE) have difficulty creating new memories and therefore distinguishing the present from the past. In this study, participants were first shown a series of images of everyday objects. They were then shown another series of images, some of which were identical to those they had already seen, and some of which were similar but different. Participants with TLE were roughly 50% more likely to label a different but similar image as repeated. This suggests that participants with TLE were having difficulty forming memories of new experiences when they were similar to past experiences. This finding furthers our understanding of how epilepsy influences memory. Learn more

Inducing Epilepsy Resistance: Using a technique called optogenetics, which uses light to control brain activity, researchers were able to change the activity within the brain of a rat from a hyperexcitable state (one that is more likely to have a seizure) into one that is seizure resistant. Stimulating the rat’s brain to be more seizure resistant also increased a substance in the brain called adenosine that inhibits brain activity, converting the rat’s brain to a state strongly resistant to seizures. Although direct application of this technology in humans with epilepsy would be limited, the researchers suggest that methods that enhance adenosine could be explored as a treatment to reduce seizures. Learn more

Genetic Variants Linked to Febrile Seizures: An international study has identified novel regions of the genome linked to febrile seizures, shedding light on the genetic link between febrile seizures and epilepsy. The researchers analyzed the DNA of 7,635 children from Denmark and Australia, who had experienced one or more febrile seizures and compared the results to the DNA of 83,966 children without febrile seizures. The study identified gene regions, some of which were novel, that were strongly linked to increased risk of developing febrile seizures. Some of these regions have already been associated with epilepsy, increasing our knowledge of the link between febrile seizures and epilepsy. The researchers plan more studies, particularly focusing on those children with febrile seizures who later develop epilepsy, to further understand the connection between the two conditions. Learn more