Researchers Provide Complete Clinical Landscape for Major Gene Linked to Epilepsy and Autism
Published on in CHOP News
More than 400 patients with SCN2A-related disorders described in literature have genetic and clinical data mapped.
Epilepsy Neurogenetics Initiative (ENGIN) News and Updates
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Pediatric Neurologist from CHOP, Penn Medicine Receives Hartwell Individual Biomedical Research Award
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
Febrile infection-related epilepsy syndrome (FIRES) typically sends children to ICU after a mild infection, yet a specific cause remains unknown.
Telemedicine Proven Effective Means of Monitoring Patients in Large Pediatric Neurology Network
Published on in CHOP News
Findings demonstrate that telemedicine will likely have an important role in clinical care that lasts far beyond the current pandemic that facilitated its necessity.
Researchers from ENGIN at CHOP Show How Variants in RNA Editing Can Cause Epilepsy
Published on in CHOP News
RNA editing is critical in brain development, and pinpointing this variant may lead to precision medicine developments for epilepsy in certain patients.
CHOP Epilepsy Experts Share Wide Variety of Findings at Annual American Epilepsy Society Meeting
CHOP Epilepsy Experts Meet with Families and Share Wide Variety of Findings at Annual American Epilepsy Society Meeting
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