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 combined results from 39 published studies on responsive neurostimulation (RNS) in children and teens age 18 or younger with drug-resistant epilepsy.
This study looked at adults with tuberous sclerosis complex (TSC) who had a history of seizures and were followed at one center in Paris from 2005 to 2021.
Researchers looked at early real-world use of phenylbutyrate in children with 2 rare developmental and epileptic encephalopathies: STXBP1-encephalopathy and SLC6A1-encephalopathy.
This paper was a systematic review, which means the authors gathered and summarized results from many earlier studies instead of testing one new group of patients.
This paper describes the protocol, regulatory structure, and supportive preliminary data for two ongoing multicenter prospective natural history studies in people with STXBP1-related disorder and SYNGAP1-related disorder.
This study looked at whether children had a higher chance of neurodevelopmental disorders if their father used valproate during the 3 months before conception, which is the time period used in the study to represent spermatogenesis.
This study looked at how often genetic testing was used in people being evaluated for epilepsy surgery at one tertiary epilepsy center in Finland over about 10 years.
This study looked at how pediatric neurologists in Japan report using and prescribing rescue medicine before a child reaches the hospital for status epilepticus, which is a seizure emergency.
This paper is a critical review, not a new experiment.