This hub covers epilepsy genetics: how gene changes can contribute to seizures (often in children). We translate studies on testing, results like VUS, and what findings may change for care.
No. It’s common in pediatrics, but adults can benefit from genetic testing, too, especially with unclear diagnosis or family history.
Sometimes. For certain conditions, results can guide medication choice, diet therapies, or referral decisions.
It usually means “not enough evidence yet.” It shouldn’t be treated as a definite cause, but it can be reclassified over time.
Not necessarily. Testing can miss some variants, and new gene links are still being discovered.
This study looked at how high-frequency activity (HFA) in the brain can help identify neonates (newborns) with seizures and predict their risk of developing epilepsy later on.
Researchers studied the use of third-generation anti-seizure medications (ASMs) to treat epilepsy.
This study focused on people in Martinique who experienced status epilepticus (SE), a serious condition where seizures last too long or occur repeatedly without recovery.
This study focused on children with Tuberous Sclerosis Complex (TSC), a genetic condition that can cause various health issues, including tumors in different organs and early-onset epilepsy.
A study was conducted to understand the characteristics and treatment outcomes of epilepsy related to the NPRL3 gene.
This study looked at how effective a virtual training program was for neurology trainees in Canada learning about epilepsy.
This study looked at the cost-effectiveness of a medication called brivaracetam (BRV) for treating patients in Jordan who have focal-onset seizures that do not respond to other treatments.
Researchers studied how brain activity changes during sleep by looking at a specific type of electrical signal called aperiodic activity.
Researchers studied a new method for detecting infantile spasms (IS), a serious type of epilepsy that occurs in young children.