CHOP Researchers Define Seizure Burden, Developmental Outcomes for STXBP1-Related Disorders
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This major step allows for the creation of clinical trials to test key endpoints that will determine the efficacy of new therapies.
Epilepsy Neurogenetics Initiative (ENGIN) News and Updates
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CHOP Researchers Show Epilepsy and Autism Symptoms in Dravet Syndrome May Be Caused by Separate Mechanisms
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Dravet syndrome is a severe neurodevelopmental disorder defined by treatment-resistant epilepsy and features related to autism spectrum disorder.
CHOP Researchers Use Novel Technique to Analyze 53 Million Points of Clinical Data
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Findings demonstrate how a new computational method could effectively analyze phenotypes and identify similarities among patient populations.
CHOP Researchers Identify Underreported Symptoms in Patients with Common Form of Genetic Epilepsy
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STXBP1-related disorders include gastrointestional and respiratory symptoms in certain patients, according to extensive interviews with caregivers.
$25 Million Gift to Penn Medicine and Children’s Hospital of Philadelphia Establishes Center for Epilepsy and Neurodevelopmental Disorders
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A $25 million gift from an anonymous donor to Penn Medicine and Children’s Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders.
CHOP Researchers Discover Genetic Variant Associated with Earlier Onset Childhood Epilepsy
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Patients with the identified variant may respond favorably to targeted treatment with a readily available anti-seizure medication.
CHOP Study Explores the Use of Telemedicine in Child Neurology in Largest Study to Date
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Certain patients were more likely to use telemedicine even with the reopening of in-person appointments, while barriers to telemedicine remained for some families.
In New Age of Telemedicine, CHOP Researchers Identify Child Neurology Patients Who Still Require In-Person Visits
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While telemedicine appeared to be effective in 95% of cases, some younger patients and those with neuromuscular disorders still required in-person visits.
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.
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.