Epilepsy Research

News

September 2025

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SUDEP Risk is Influenced by Genomics: a Polygenic Risk Score Study

This study was supported in part by a CURE Epilepsy Award from CURE Epilepsy

In a CURE Epilepsy-funded study, scientists investigated common genetic variation as a contributing factor to Sudden Unexpected Death in Epilepsy (SUDEP). SUDEP is a rare and tragic outcome in epilepsy, identified by those with the condition as their most serious concern. Several clinical factors are associated with elevated SUDEP risk. However, the mechanisms underlying SUDEP are poorly understood, and individual risk prediction is challenging, especially early in the disease course.

Genetic data from patients who had succumbed to SUDEP were compared to data from patients with epilepsy who had not succumbed to SUDEP and from people without epilepsy. Scientists calculated polygenic risk scores (PRSs) based on common genetic variation and associated scores with SUDEP risk.

Standard Complete Blood Count to Predict Long-Term Outcomes in Febrile Infection–Related Epilepsy Syndrome (FIRES)

A recent study assessed whether complete blood count (CBC) analyses during intensive care unit stay could predict 12-month outcomes in patients with febrile infection–related epilepsy syndrome (FIRES), a form of new-onset refractory status epilepticus for which the cause is unknown (cryptogenic).

Scientists used a standardized assessment tool called the Glasgow Outcome Scores (GOS) to evaluate overall functional recovery and outcome in 63 patients (34 adults, 29 children) who experienced cryptogenic FIRES. Twelve‑month GOS outcomes were classified as unfavorable or favorable.

Most Epilepsy Patients Wait a Year After Starting Treatment for Seizure Relief

Antiseizure medications help many people with focal epilepsy, a common form of the neurological disorder. Accounting for about 60% of people with epilepsy, focal epilepsy occurs when nerve cells in a certain brain region send out a sudden, excessive burst of electrical signals. This uncontrolled activity, referred to as a focal seizure, can cause problems such as abnormal emotions or feelings and unusual behaviors.

A recent study looked at patients who may not respond to the first antiseizure medication or regimen prescribed but are responsive to another medication tried later in their treatment journey. A possible explanation is that physicians are not selecting the ideal antiseizure therapy on their first try. Results for nearly 450 men, women, and teens newly diagnosed with the disorder revealed that while more than half would eventually receive a medication or regimen that worked for them, major improvements were not achieved until an average of 12 months. Many needed even longer to find relief.

UCLA Researchers Find how Epilepsy Genes Disrupt Different Brain Regions Using Stem Cell Models

This study was supported in part by a Taking Flight Award from CURE Epilepsy

A stem cell-based research study funded in part by CURE Epilepsy provided a step toward understanding why epilepsy caused by mutations in the SCN8A gene is difficult to treat, pointing to the distinct effects that single disease-causing gene variants can have across different regions of the brain.

The study focused on developmental and epileptic encephalopathy type 13, or DEE-13, which is caused by certain variants in the SCN8A gene. Children with DEE-13 experience frequent seizures as well as developmental delays, intellectual disability, and autism spectrum disorder.

Using patient-derived stem cells, the researchers generated advanced cellular models of two key brain areas: the cortex, which is essential for movement and higher-order thinking, and the hippocampus, which supports learning and memory.

The results revealed strikingly different effects depending on the brain region. In cortical models, the SCN8A variants made neurons hyperactive, mimicking seizure activity. However, in hippocampal models, the variants disrupted the brain rhythms associated with learning and memory. This disruption stemmed from a selective loss of specific hippocampal inhibitory neurons — the brain’s traffic cops that regulate neural activity.

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