CHOP Researchers Use Big Data to Assess Seizure Burden and Improve Outcomes in Pediatric Epilepsy Patients
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CHOP is the only center to capture standardized clinical data from ongoing patient care.
Epilepsy Neurogenetics Initiative (ENGIN) News and Updates
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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders
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A dozen patients have clinical features linked to the genetic variants, and preclinical models reveal more about how they affect normal function.
Applying New Framework Improves Big Data Analysis for Pediatric and Adult Epilepsies
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When applying new terminology to existing data through computational methods, researchers increased the number of descriptive terms five-fold, improving diagnostic capabilities.
Researchers Provide Complete Clinical Landscape for Major Gene Linked to Epilepsy and Autism
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More than 400 patients with SCN2A-related disorders described in literature have genetic and clinical data mapped.
Pediatric Neurologist from CHOP, Penn Medicine Receives Hartwell Individual Biomedical Research Award
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Ingo Helbig will use award to fund research addressing critical gaps of understanding in neurodevelopmental disorders at a genomic level.
Epilepsy Neurogenetics Initiative: Looking Back on a Successful First Year
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We saw great clinical and research growth in our first year in operation, despite the challenges of the COVID-19 pandemic.
Expanding Access to Continuous EEG Monitoring in Neonatal Intensive Care Units
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In an effort to expand access to continuous EEG (CEEG) monitoring, CHOP recently initiated a pilot program of remote CEEG monitoring for at-risk neonates at two regional affiliated hospitals that provide neonatology services.
Genetic Causes of Severe Childhood Brain Disorders Found Using New Computational Methods
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By standardizing how clinical information is analyzed, researchers found 11 causative genes associated with specific symptoms.
Researchers Combine Genetic Information with Electronic Medical Records to Pinpoint When Epilepsies Affect Children
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Assessing clinical data across the lifespan identified the impact of genetic epilepsies on affected children’s lives.
A Genetic Cause Remains Elusive in Severe Form of Childhood Epilepsy
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Febrile infection-related epilepsy syndrome (FIRES) typically sends children to ICU after a mild infection, yet a specific cause remains unknown.