Finding Answers Through Collaboration
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Unique endocrinology-neurology collaboration seeks to understand the variation in seizure activity in patients with hyperinsulinism/hyperammonemia.
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Unique endocrinology-neurology collaboration seeks to understand the variation in seizure activity in patients with hyperinsulinism/hyperammonemia.
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Adam’s hyperinsulinism/hyperammonemia wasn’t well controlled until he came from Chicago to CHOP. Now he’s participating in research to help find a better treatment for HA.
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CHOP researchers use novel tool to mine clinical data and identify causative gene in severe childhood 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.
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“All staring is not necessarily seizure," but in M's case it was. M was diagnosed with CAE; he outgrew it by age 10, but was then diagnosed with PNEE. A CHOP Neurology fellow highlights the case.
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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.
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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.
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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.
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Before starting on the ketogenic diet, Tikvah suffered from intractable absence seizures. But after just two months on the diet, her condition dramatically improved.
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The Pediatric Epilepsy Program is one of the largest and most interdisciplinary programs of its kind in the world, with expertise covering all aspects of epilepsy management.