A groundbreaking study by scientists at UTHealth Houston has identified two genes, DYRK1A and EGFR, as being associated with epilepsy, offering new insights into the disorder and paving the way for improved diagnostics and treatments. The findings, led by Dennis Lal, Ph.D., director of the Center for Neurogenetics at McGovern Medical School, were published in Nature Communications.
As reported by medicalxpress, the study analyzed data from 1,386 human brain tissues, focusing on somatic genetic variants—mutations that occur after conception and can only be detected in brain tissue. This extensive research marks the largest study of its kind to date.
Epilepsy affects approximately 3.4 million people in the United States, according to the Centers for Disease Control and Prevention (CDC). A significant subset of these individuals—1 in 3 patients—experience drug-resistant epilepsy, underscoring the urgent need for novel therapeutic approaches.
“Our discovery of these genes deepens our understanding of the biology behind epilepsy and provides valuable diagnostic biomarkers,” said Dr. Lal.
Key Findings
- New Gene Associations: The research linked DYRK1A and EGFR to genetic mutations associated with epileptic brain lesions.
- Established Links: Four well-known gene-disease associations were confirmed, while evidence was provided for eight additional associations.
- Therapeutic Potential: Many identified genes interact with biological pathways targeted by FDA-approved cancer drugs, suggesting potential for repurposing these medications for epilepsy treatment.
Notably, while epileptic lesions share genetic traits with tumors, neurons—the primary cells affected in epilepsy—do not replicate like cancer cells. This distinction could enable the development of targeted therapies without the challenges associated with cancer treatments.
The study offers hope for patients with drug-resistant epilepsy, as brain tissue testing after surgery could soon become a clinical reality, offering answers to the condition’s root causes.
“For patients, caregivers, and health care providers, this research brings us closer to understanding epilepsy at its core and improving quality of life,” Lal said.