Researchers from ENGIN at CHOP Show How Variants in RNA Editing Can Cause Epilepsy
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RNA editing is critical in brain development, and pinpointing this variant may lead to precision medicine developments for epilepsy in certain patients.
Epilepsy Neurogenetics Initiative (ENGIN) News and Updates
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Revolutionizing Epilepsy Care
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When Ryan was 5 months old, he went stiff in his mother’s arms, stopped breathing and turned blue. His parents, Jennifer and Derek, were petrified. Ryan was diagnosed with epilepsy, a condition that causes seizures.
CHOP Researchers Use Novel Tool to Mine Clinical Data and Identify Causative Gene in Severe Childhood Epilepsy
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CHOP researchers use novel tool to mine clinical data and identify causative gene in severe childhood epilepsy.
Adding Parental Testing May Improve Diagnosis in Child Epilepsy
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CHOP researchers report that including parental testing in clinical genetic tests improves diagnosis to help guide treatment for pediatric epilepsy.
CHOP Experts Help Discover 11 Genes Newly Linked to Epilepsy
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CHOP scientists joined with researchers worldwide to find genes involved in common forms of epilepsy. The findings may advance future precise treatments to control seizures.
New Causative Gene Found in Severe Childhood Epilepsy
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Recent research has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome, and found clues to potential medical treatments.
In a Severe Childhood Neurodegeneration, Novel Mechanism Found
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Neurology researchers studying a rare, devastating condition in infants have discovered the cause: gene mutations that disrupt mitochondria in cells.
“Missing Mutation” Found in Severe Infant Epilepsy
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CHOP has found a long-suspected “missing mutation” in severe infant epilepsy, with early hints that anti-seizure drugs might help patients.
Biomarkers, Clues to Possible Therapy Found in Novel Childhood Neurogenetic Disease
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In a rare genetic disorder causing severe, progressive neurological problems, CHOP researchers find hints that an amino acid supplement might be a targeted therapy.
Using Precision Medicine to Unravel the Sacred Disease: Genetics as a Tool in the Epilepsy Clinic
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Novel technologies have helped researchers identify more than 30 new genes that cause epilepsy and led neurologists at CHOP to pioneer new diagnostic technologies and treatments.