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CHOP Researchers Define Seizure Burden, Developmental Outcomes for STXBP1-Related Disorders
This major step allows for the creation of clinical trials to test key endpoints that will determine the efficacy of new therapies.
CHOP Researchers Show Epilepsy and Autism Symptoms in Dravet Syndrome May Be Caused by Separate Mechanisms
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
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
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
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
Patients with the identified variant may respond favorably to targeted treatment with a readily available anti-seizure medication.
Abu Dhabi Health Services Company (SEHA) and Children’s Hospital of Philadelphia (CHOP) align to boost medical research and education in the UAE
Abu Dhabi Health Services Company (SEHA), the UAE’s largest healthcare network, has signed a Memorandum of Understanding (MoU) with Children’s Hospital of Philadelphia (CHOP) to facilitate enhanced international collaboration and further propel the quality of medical education, research, and patient experience within the UAE.
CHOP Study Explores the Use of Telemedicine in Child Neurology in Largest Study to Date
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
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
Unique endocrinology-neurology collaboration seeks to understand the variation in seizure activity in patients with hyperinsulinism/hyperammonemia.