Secure Video Sharing Tool Helps Diagnose Pediatric Epilepsy
Researchers conducted a study to explore the use of a secure digital tool for sharing videos of suspected seizures in children.
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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First-Line Seizure Medications Work Similarly for Children
Researchers conducted a study to understand how effective first-line antiseizure medications (ASMs) are for children newly diagnosed with epilepsy.
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Using Anticonvulsants to Improve Outcomes After Cardiac Arrest
Researchers investigated the effects of using preventive anticonvulsant medications in patients who experienced cardiac arrest and were treated with mild hypothermia.
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Comorbidities | Epilepsy Research Summaries | Genetics | New Studies | Pediatrics | Status Epilepticus
Levetiracetam as First Choice Treatment for Non-Convulsive Status Epilepticus
Researchers investigated the use of intravenous (i/v) levetiracetam (LEV) as a first-line treatment for patients experiencing non-convulsive status epilepticus (NCSE), a serious condition where seizures occur without noticeable convulsions.
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Drug-Resistant Epilepsy | Epilepsy Research Summaries | Genetics | New Studies | Pediatrics | Status Epilepticus
Comparing Two Drugs for Children With Severe Seizures
Researchers conducted a study to compare the effectiveness and safety of two medications, levetiracetam and sodium valproate, in treating children aged 1 to 16 years who were experiencing refractory generalized convulsive status epilepticus.
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Levetiracetam or Phenobarbital for Seizures in Children
Researchers at Yangon Children’s Hospital studied the effectiveness of two medications, levetiracetam and phenobarbital, for treating prolonged seizures in children who did not respond to benzodiazepines.
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Understanding Breathing Changes During Seizures and Their Risks
Researchers examined how breathing is affected during and after seizures, focusing on specific breathing problems that can occur during these events.
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New Insights on AKT2 Mutation and Severe Hypoglycemia in Children
Researchers studied a 12-year-old boy with a history of seizures and other health issues, including abnormal fat distribution and intellectual disability.
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Understanding Leber Hereditary Optic Neuropathy and Its Effects
Researchers examined Leber hereditary optic neuropathy (LHON), a rare genetic condition that primarily affects vision but can also impact other body systems.
