Rare Genetic Variants Linked to Muscle Weakness and Epilepsy
Researchers studied a patient with severe muscle weakness, a condition known as arthrogryposis, and epilepsy that did not respond to treatment.
Pediatrics
This hub covers pediatric epilepsy in infants, kids, and teens, including diagnosis, syndromes, development, school plans, and safety. New studies translated into clear takeaways for parents.
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
Pediatrics: What Families Usually Want to Know
- What’s different about epilepsy in infants, kids, and teens
- Common causes, including genetic syndromes and brain development issues
- When to push for a specialty epilepsy center
- School plans, sports, and day-to-day safety
Common Pediatric Epilepsy Terms in Plain English
- Syndrome: A recognizable pattern of seizures + EEG + symptoms
- Developmental delay: Slower skill development (can have many causes)
- Regression: Losing previously gained skills (flag for urgent evaluation)
- Febrile seizure: Seizure with fever (often benign, sometimes relevant)
- Epileptic encephalopathy: Seizures/EEG patterns that can affect development
Related Topics
Pediatric Epilepsy FAQ
When is epilepsy “drug-resistant?”
Usually when two appropriate medications haven’t controlled seizures.
Should we get a 504 plan or an IEP?
Many families benefit and it depends on seizure frequency, medications, and learning needs.
Can kids with epilepsy play sports?
Often yes, with smart precautions. Ask your neurologist or epileptologist about your child’s specific risks.
What symptoms mean “call now?”
Clusters, prolonged seizures, breathing trouble, new weakness, or major regression.
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Drug-Resistant Epilepsy | Epilepsy Research Summaries | Genetics | Ketogenic Diet | New Studies | Pediatrics
Ketogenic Diet Shows Promise for Genetic Epilepsy Treatment
This study looked at how effective the ketogenic diet therapy (KDT) is for children with drug-resistant epilepsy caused by specific genetic mutations.
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Epilepsy Research Summaries | Ketogenic Diet | Lifestyle & Sleep | New Studies | Pediatrics | Status Epilepticus
Navigating Dravet Syndrome: A Parent and Doctor’s Journey
This study looked at the experiences of a child named Ethan who has Dravet syndrome, a severe form of epilepsy that starts in infancy.
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New Insights Into Brain Changes in Focal Cortical Dysplasia
This study focused on understanding the brain structure in a specific condition called focal cortical dysplasia (FCD), which is a common cause of epilepsy that does not respond well to medication.
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Identify Risk Factors for Sudden Death in Epilepsy
This study looked at sudden unexpected death in epilepsy (SUDEP), which is a major cause of death related to epilepsy.
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Targeting Low-Entropy Zones Improves Surgery Success for Kids with Epilepsy
Researchers studied children with drug-resistant epilepsy (DRE) to find better ways to predict the success of epilepsy surgery.
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Levetiracetam Safer Than Phenobarbital for Newborn Seizures
Researchers studied the effectiveness and safety of two medications, levetiracetam (LEV) and phenobarbital (PB), for treating seizures in newborns.
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Drug-Resistant Epilepsy | Epilepsy Research Summaries | Genetics | Imaging & EEG | New Studies | Pediatrics
MRgLITT Offers Hope for Children with Drug-Resistant Epilepsy
Researchers studied the use of magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) as a treatment for children with drug-resistant epilepsy, which means their seizures do not respond to standard medications.
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Devices & Neuromodulation | Epilepsy Research Summaries | Genetics | New Studies | Pediatrics | Status Epilepticus
Predicting Epilepsy Risk in Children with Febrile Seizures
Researchers studied 231 children who experienced febrile seizures, which are seizures triggered by fever, to see if they could predict who might develop epilepsy or a specific type of epilepsy called genetic epilepsy with febrile seizures plus (GEFS+).
