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.
Researchers studied the use of two types of brain monitoring—scalp EEG (scEEG) and stereo EEG (SEEG)—in patients with drug-resistant epilepsy.
Researchers studied six Chinese children diagnosed with pyridoxine-dependent epilepsy (PDE) to understand the clinical features and genetic changes related to this condition.
Researchers studied a patient with severe muscle weakness, a condition known as arthrogryposis, and epilepsy that did not respond to treatment.
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.