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 neurologists in five European countries—UK, Norway, Sweden, Spain, and Hungary—communicate about Sudden Unexpected Death in Epilepsy (SUDEP), which is a major cause of death for people with epilepsy.
Researchers studied the challenges that healthcare providers face when trying to follow guidelines for genetic testing and counseling in people with epilepsy.
This study looked at how epilepsy affects the oral and dental health of children.
A study was conducted to evaluate the effectiveness and safety of a medication called cenobamate (CNB) in treating patients with Lennox-Gastaut Syndrome (LGS), a severe form of epilepsy that often starts in childhood.
A recent study surveyed international experts to understand their recommendations for folic acid supplementation in pregnant people with epilepsy.
In a recent study, researchers looked at how well neurologists in the United States are following new guidelines for genetic testing and counseling for patients with unexplained epilepsy.
This study looked at a specific gene called ADAM23 and its potential role in causing focal epilepsy, which is a type of seizure disorder.
This study looked at children with a specific genetic condition called SYNGAP1-related developmental and epileptic encephalopathy (DEE), which causes severe developmental issues and epilepsy.
Researchers studied the connection between enlarged perivascular spaces (ePVS) in the brain and certain markers of epilepsy in patients undergoing a specific type of brain monitoring called stereo-electroencephalography (SEEG).