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 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.
Researchers studied how levetiracetam, a common medication for epilepsy, is monitored during pregnancy.
This study looked at a specific genetic cause of focal epilepsy called DEPDC5 variants, which are often linked to brain abnormalities.
Researchers studied a specific genetic change in the NBEA gene in a child from China who had developmental delays and epilepsy.
This study looked at a group of Japanese patients with specific genetic changes known as DHDDS variants, which are linked to severe epilepsy and movement disorders.