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.
This study looked at how well different people agree on measuring seizure frequency in children with epilepsy who are treated with vagus nerve stimulation (VNS).
The STIRUS study looked at how effective stiripentol, a medication approved for Dravet syndrome (DS), is for patients in the United States.
The ELUCID study is a research project that looks at older adults, specifically those aged 55 and older, who have developed seizures without a clear cause, known as late-onset unexplained epilepsy (LoUE).
This study looked at children diagnosed with Alexander disease (AD), a rare neurological condition, over the past ten years.
This study looked at how machine learning can help predict which patients with drug-resistant epilepsy might respond well to neuromodulation therapies, like vagus nerve stimulation (VNS).
This study looked at how well a new questionnaire-based tool can help classify seizure types in children with epilepsy.
Researchers studied how well machine learning (ML) models can predict seizures in patients with glioma-associated epilepsy (GAE), a common issue for people with gliomas, which are a type of brain tumor.
Researchers studied the prevalence of brain-related disorders in people with Noonan syndrome (NS), a genetic condition that can affect growth, heart health, and brain development.
Researchers studied brain networks in 91 patients who had surgery for epilepsy.