Antiseizure Medications May Harm Bone Health in Children
This study looked at how antiseizure medications (ASMs) affect bone health in children aged 5 to 15 who had just been diagnosed with epilepsy and had not yet started treatment.
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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CELSR1 Gene Variants Linked to Brain Malformations and Epilepsy
Researchers studied the CELSR1 gene and its impact on brain development and function in seven individuals from five different families.
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Imaging Traits in Juvenile Absence Epilepsy Explained
Researchers studied juvenile absence epilepsy (JAE) to understand how it affects the brain and cognitive abilities.
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Understanding Infantile Epileptic Spasms and Treatment Success
Researchers in Thailand studied a group of 191 infants diagnosed with Infantile Epileptic Spasms Syndrome (IESS) to understand the causes of this condition and how well the medication vigabatrin (VGB) works as a first treatment.
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Vagus Nerve Stimulation Reduces Seizures in Dravet Syndrome
Researchers studied the long-term effects of vagus nerve stimulation (VNS) on people with Dravet syndrome, a severe form of epilepsy.
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Epilepsy Research Summaries | Genetics | Imaging & EEG | New Studies | Pediatrics | Status Epilepticus
Understanding Myoclonic-Atonic Seizures in Children
Researchers studied a group of 60 patients with epilepsy characterized by myoclonic-atonic seizures, a type of seizure that can cause sudden falls and loss of muscle control.
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Brain Changes Linked to Late-Onset Unexplained Epilepsy
This study focused on understanding brain changes in older adults with late-onset unexplained epilepsy (LOUE), which is epilepsy that starts after age 55 without a clear cause.
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Gene Testing Improves Diagnosis of Pediatric Epilepsy
This study looked at how effective targeted gene panel testing is for diagnosing epilepsy in children.
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Effective Ketogenic Diet for Managing GLUT1 Deficiency in Kids
This study looked at how well the ketogenic diet works for children with GLUT1 deficiency syndrome (GLUT1DS), a genetic condition that can cause seizures and other neurological problems.
