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 late-onset epileptic spasms, which means epileptic spasms starting after 12 months of age.
This study looked at national prescription data in Germany from 2000 to 2024 to examine how often anti-seizure medicines were prescribed and how their prices changed over time.
Researchers evaluated how useful next-generation sequencing was for identifying genetic causes of epilepsy in 250 children in Turkey whose epilepsy did not have a known cause.
This paper was a systematic review of randomized controlled trials on ketogenic diet therapies for people with drug-resistant epilepsy.
This paper reviewed studies of people with focal epilepsy who were switched from oxcarbazepine (OXC) to eslicarbazepine acetate (ESL).
This study looked at people age 16 and older with idiopathic generalized epilepsy (IGE) who were admitted to one hospital’s epilepsy monitoring unit for inpatient video-EEG between 2008 and 2024.
Researchers looked at what happens in the brain right as a seizure starts.
This paper describes a study plan, not study results.
This paper described one infant boy with Ververi-Brady syndrome who presented with infantile epileptic spasms syndrome.