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 a rare condition called Pyridoxine-Dependent Epilepsy (PDE), which is caused by changes in a gene known as ALDH7A1.
This study looked at children with epilepsy and movement disorders, known as EPIMDs, to better understand their genetic causes and how these conditions present.
Researchers studied a gene called BAIAP2 to understand its role in developmental and epileptic encephalopathies (DEEs), which are severe forms of epilepsy that can affect a child’s development.
Researchers studied the use of cannabidiol, a compound found in cannabis, in children with developmental and epileptic encephalopathies (DEEs).
Researchers studied 160 patients with absence seizures linked to specific genetic causes, known as monogenic epilepsies.
Researchers studied the use of vigabatrin (VGB) as a preventive treatment for infants with tuberous sclerosis complex (TSC), a condition that often leads to early-onset epilepsy.
A study was conducted to examine how well a new inhalation device called Staccato® alprazolam works in adolescents aged 12 to 17 with epilepsy.
This study looked at different types of interventions aimed at helping children with epilepsy, focusing on service delivery, behavioral therapies, and self-management techniques.
This study looked at how well automatic systems can detect tonic seizures, which are a type of seizure where the muscles stiffen.