BCKDK Gene Mutations Linked to Autism and Developmental Delays
This study looked at four children who had mutations in a specific gene called BCKDK.
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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New Guidelines for Vagus Nerve Stimulation Therapy
A group of 22 experts from Nordic countries studied how to improve the use of Vagus Nerve Stimulation (VNS) therapy for people with drug-resistant epilepsy.
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Drug-Resistant Epilepsy | Epilepsy Research Summaries | Genetics | Imaging & EEG | New Studies | Pediatrics
7T MRI Improves Lesion Detection in Pediatric Epilepsy
This study looked at how well ultra-high field 7T MRI works for children with drug-resistant focal epilepsy.
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Understanding Side Effects of Ketogenic Diet for Kids with Epilepsy
This study looked at the Classic Ketogenic Diet (CKD), a high-fat, low-carbohydrate diet used to treat children with epilepsy that does not respond to medication.
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New Genetic Variant Linked to Infantile Spasms and Hypotonia
This study focused on a genetic variant in a gene called CCDC82 and its link to neurodevelopmental disorders, particularly in a young boy with serious health issues.
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Valproate Therapy Linked to Rare Hypothyroid Symptoms in Child
Researchers studied a young patient with epilepsy who was being treated with a medication called valproate.
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New Tool Predicts Drug-Resistant Epilepsy in Children with TSC
This study focused on children with tuberous sclerosis complex (TSC) who experience epilepsy.
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GLP-1 Receptor Agonists Offer Benefits for Type 2 Diabetes Care
Researchers studied the effects of a type of diabetes medication called glucagon-like peptide-1 receptor agonists (GLP-1RAs) in adults with type 2 diabetes (T2D).
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Improving Access to Genetic Testing for Neurodevelopmental Disorders
This study looked at how genetic testing is used to diagnose neurodevelopmental disorders (NDDs) in Israel, focusing on children born between 2000 and 2020.
