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 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.
This study looked at adults who were newly diagnosed with a type of epilepsy called genetic generalized epilepsy (GGE).
A study called the MonoPER study looked at how effective and tolerable the medication Perampanel (PER) is when used alone to treat adults with focal or idiopathic generalized epilepsy.
A recent study looked at two different treatments for people with epilepsy caused by a brain condition called focal cortical dysplasia (FCD) that shows up on MRI scans.
Researchers studied the effectiveness of five newer anti-seizure medications (ASMs) in treating Lennox-Gastaut syndrome (LGS), a severe form of epilepsy that begins in childhood and is often resistant to treatment.
Researchers studied a specific type of epilepsy linked to mutations in the KCNT1 gene, which causes potassium channels in the brain to become overly active.
This study focused on late-onset epilepsy (LOE), which occurs in people over the age of 50, and the challenges in diagnosing its causes.
This study looked at how doctors who treat epilepsy in Malaysia view a new digital service designed to predict seizures based on heart activity.