Improving Access to Genetic Testing for Unexplained Epilepsy
In a recent study, researchers looked at how well neurologists in the United States are following new guidelines for genetic testing and counseling for patients with unexplained epilepsy.
Genetics
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.
What you’ll find in this topic:
- Plain-language summaries of new epilepsy studies
- What the research means for real life
- Practical questions to ask your neurologist
- Related topics you can explore next
Genetics: What Families Usually Want to Know
- What “genetic epilepsy” means (and what it doesn’t)
- When genetic testing is worth asking about
- What test results can change (treatment, prognosis, family planning)
- How to interpret “variant of uncertain significance” (VUS)
Common Genetics Terms in Plain English
- Gene variant: A change in DNA (sometimes important, often harmless)
- Pathogenic / likely pathogenic: Strong evidence it can cause disease
- VUS: Not enough evidence yet (common, may be reclassified later)
- De novo: Not inherited, happened “new” in the child
- Mosaicism: Variant exists in some cells but not others
Related Topics
Genetics FAQ
Is genetic testing only for kids?
No. It’s common in pediatrics, but adults can benefit from genetic testing, too, especially with unclear diagnosis or family history.
If we find a gene, does it change treatment?
Sometimes. For certain conditions, results can guide medication choice, diet therapies, or referral decisions.
What if the result is VUS?
It usually means “not enough evidence yet.” It shouldn’t be treated as a definite cause, but it can be reclassified over time.
Do negative results mean it’s not genetic?
Not necessarily. Testing can miss some variants, and new gene links are still being discovered.
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ADAM23 Gene Variants May Contribute to Focal Epilepsy
This study looked at a specific gene called ADAM23 and its potential role in causing focal epilepsy, which is a type of seizure disorder.
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Devices & Neuromodulation | Epilepsy Research Summaries | Genetics | Imaging & EEG | New Studies | Pediatrics
Surgery May Help Some Kids with SYNGAP1 Epilepsy
This study looked at children with a specific genetic condition called SYNGAP1-related developmental and epileptic encephalopathy (DEE), which causes severe developmental issues and epilepsy.
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ePVS Density May Not Indicate Epileptogenicity in Patients
Researchers studied the connection between enlarged perivascular spaces (ePVS) in the brain and certain markers of epilepsy in patients undergoing a specific type of brain monitoring called stereo-electroencephalography (SEEG).
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Understanding the Varied Effects of 15q11.2 Genetic Changes
This study looked at 37 children who had changes in a specific part of their DNA called the 15q11.2 region.
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New Genetic Variant Found in Rare Ataxia Disorder
This study looked at a rare genetic disorder called spinocerebellar ataxia type 13 (SCAR13) in two families from Pakistan.
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Unreported Lab Data Hinders Care for Pediatric Epilepsy Patients
Researchers studied how often unreported information about genetic changes, known as variants of uncertain significance (VUS), is found in children with epilepsy.
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Gamma Stimulation May Boost Cognitive Function in Alzheimer’s Patients
Researchers studied the effects of gamma rhythm stimulation, specifically at 40 Hz, on cognitive function in people with Alzheimer’s disease (AD).
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BCKDK Gene Mutations Linked to Autism and Developmental Delays
This study looked at four children who had mutations in a specific gene called BCKDK.
