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 brain scans can help predict which patients with temporal lobe epilepsy (TLE) will become seizure-free after a specific type of surgery called laser interstitial thermal therapy (LITT).
Researchers studied the use of animal models in medical research to understand how they help in developing treatments for various human diseases, including epilepsy.
This study looked at a specific genetic variant in a 7-year-old girl with epilepsy and developmental issues.
This study focused on Jordan syndrome, a rare condition caused by changes in the PPP2R5D gene.
This study looked at the genetic causes of infantile spasms in children under two years old in Peru.
This study looked at how genes might influence epilepsy in mice.
This study looked at a rare genetic disorder called neuronal ceroid lipofuscinosis type 2 (CLN2 disease) in children in France.
This study looked at how well cenobamate, a medication for epilepsy, works in adults with intellectual disability (ID) compared to those without ID.
Researchers studied different non-invasive neurostimulation treatments for people with drug-resistant epilepsy, which is a type of epilepsy that does not respond well to medications.