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 children with a specific genetic condition called YWHAG-associated Neurodevelopmental Disorder (YWHAG-NDD), which can cause seizures and developmental delays.
This study looked at childhood absence epilepsy (CAE), a common type of epilepsy that affects children, particularly those in school.
Researchers studied the relationship between tau protein changes and epilepsy, particularly in adults over 55 years old.
Researchers studied a new way to manage epilepsy by combining different types of information and expertise.
Researchers studied how different parts of the brain communicate in patients with epilepsy, focusing on the areas where seizures start, known as the seizure onset zone (SOZ).
This study looked at patients who started having seizures for the first time during a COVID-19 infection.
Researchers studied Angelman syndrome (AS), a rare genetic disorder that affects about 1 in 15,000 children.
Researchers studied a specific type of seizure called Generalized Onset With Focal Evolution (GOFE) seizures.
This study looked at children with generalized tonic seizures (GTS) who underwent two types of surgeries: corpus callosotomy (CC) and focal surgery (FS).