CHOP Researchers Redefine the Mechanisms of Dravet Syndrome
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Recovery of normal signaling of a key brain cell may be a critical therapeutic target to reduce seizures and cognitive impairment.
Epilepsy Neurogenetics Initiative (ENGIN) News and Updates
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CHOP Study Suggests New Method for Measuring Quality of Life in Children with Severe Epilepsies
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Measuring days children are minimally impacted by seizures could help researchers determine effectiveness of precision medicine clinical trials.
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.
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.
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.
Telemedicine Proven Effective Means of Monitoring Patients in Large Pediatric Neurology Network
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Findings demonstrate that telemedicine will likely have an important role in clinical care that lasts far beyond the current pandemic that facilitated its necessity.