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 effective the ketogenic diet therapy (KDT) is for children with drug-resistant epilepsy caused by specific genetic mutations.
This study looked at sudden unexpected death in epilepsy (SUDEP), which is a major cause of death related to epilepsy.
This study looked at how effective cell therapy is in reducing seizures in animals that have chronic epilepsy.
Researchers studied the use of magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) as a treatment for children with drug-resistant epilepsy, which means their seizures do not respond to standard medications.
Researchers studied 231 children who experienced febrile seizures, which are seizures triggered by fever, to see if they could predict who might develop epilepsy or a specific type of epilepsy called genetic epilepsy with febrile seizures plus (GEFS+).
Researchers studied CLN2 disease, a rare and serious condition that affects the brain and nervous system, particularly in children.
Researchers studied a genetic condition called SCN2A haploinsufficiency, which is linked to neurodevelopmental disorders like autism and epilepsy.
Researchers studied infantile epilepsy spasms syndrome (IESS), a serious condition that affects about 3 in 10,000 newborns in the U.S.
This study looked at how well a combination of traditional Chinese medicine (TCM) and Western medicine works for people with refractory epilepsy (RE), which is a type of epilepsy that doesn’t respond well to standard treatments.