Unlocking the Mystery of Benign Rolandic Epilepsy: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Benign Rolandic epilepsy (BRE) is a common childhood epilepsy syndrome that typically affects children between the ages of 3 and 13. Although the seizures associated with BRE are generally mild and tend to resolve by adolescence, the condition can still be a source of concern for both parents and children. Recent advancements in genetic research have shed light on the genetic factors that contribute to BRE, paving the way for improved diagnostic tools and personalized treatment approaches.

Understanding Benign Rolandic Epilepsy

Benign Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spikes (BCECTS), is characterized by seizures that originate in the Rolandic area of the brain. This region is responsible for controlling facial and throat muscles, which is why seizures often manifest as twitching or numbness in the face, tongue, and throat. Seizures typically occur during sleep and are often brief, lasting only a few minutes.

Although the exact cause of BRE is still not fully understood, studies have shown that genetic factors play a significant role in the development of the condition. According to a review of recent gene findings associated with Rolandic epilepsy, several genes have been identified as contributing factors to the condition. These genetic variants can help researchers better understand the molecular biology of BRE and may eventually lead to more targeted treatment options.

Diagnosing Benign Rolandic Epilepsy

Diagnosing BRE can be challenging, as the condition often presents with mild symptoms that may be overlooked or misattributed to other causes. In addition to a thorough clinical evaluation, electroencephalogram (EEG) testing is often used to confirm the diagnosis. EEG can detect the characteristic centrotemporal spikes that are indicative of BRE.

As researchers continue to uncover the genetic underpinnings of the condition, genetic testing is becoming an increasingly valuable tool in the diagnostic process. A recent study identified a novel genetic variant in the CHRNA4 gene that is associated with BRE. The discovery of this and other genetic markers can help clinicians more accurately diagnose the condition and differentiate it from other types of epilepsy.

Using Genetic Testing to Inform Treatment and Management

Personalized Treatment Approaches

As our understanding of the genetic factors contributing to BRE continues to grow, so too does the potential for personalized treatment approaches. By identifying specific genetic variants associated with the condition, clinicians can tailor treatment plans to the unique needs of each patient. This may include adjusting medication dosages or exploring alternative therapies based on an individual’s genetic makeup.

Family Planning and Genetic Counseling

For families with a history of BRE or other epilepsy syndromes, genetic testing can provide valuable information for family planning and genetic counseling. By identifying potential genetic risks, couples can make informed decisions about having children and better understand the likelihood of passing on epilepsy-related genes to their offspring.

Monitoring Disease Progression and Remission

One of the hallmarks of BRE is that it typically resolves by adolescence. However, the course of the condition can vary between individuals. Genetic testing can help clinicians monitor disease progression and predict the likelihood of remission, allowing for more accurate prognosis and appropriate adjustments to treatment plans as needed.

Conclusion

Benign Rolandic epilepsy is a complex condition with a strong genetic component. As researchers continue to uncover the genetic factors contributing to the disease, genetic testing is proving to be an invaluable tool for diagnosing and managing the condition. By enabling personalized treatment approaches, informed family planning, and accurate monitoring of disease progression, genetic testing is helping to unlock the mystery of BRE and improve the lives of those affected by the condition.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)