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 how deep learning (DL) techniques can help locate the epileptogenic zone (EZ), which is the area in the brain that causes seizures, in people with drug-resistant epilepsy.
Researchers studied various modern treatment approaches for epilepsy, a condition that causes repeated seizures.
Researchers studied how well epilepsy surgery works for patients with specific genetic conditions that can cause epilepsy.
This study looked at epilepsy in children with PTEN Hamartoma Tumor Syndrome (PHTS), a genetic condition caused by a mutation in the PTEN gene.
This study looked at the challenges that healthcare providers face when counseling women with epilepsy about breastfeeding.
This study looked at how early clinical signs and EEG (brain wave) patterns relate to the outcomes of children with genetic epilepsies.
Researchers studied surgical treatments for a serious condition called super-refractory status epilepticus (SRSE), which is a prolonged seizure that lasts more than 24 hours and does not respond to standard treatments.
Researchers studied the effectiveness and safety of a medication called perampanel in patients with Lennox-Gastaut syndrome (LGS), a severe form of epilepsy that often starts in childhood.
Researchers studied how breathing patterns before seizures might relate to low oxygen levels after generalized convulsive seizures (GCS) in people with epilepsy.