Published on in CHOP News
A dozen patients have clinical features linked to the genetic variants, and preclinical models reveal more about how they affect normal function.
Published on in CHOP News
When applying new terminology to existing data through computational methods, researchers increased the number of descriptive terms five-fold, improving diagnostic capabilities.
Published on in CHOP News
More than 400 patients with SCN2A-related disorders described in literature have genetic and clinical data mapped.
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.
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.
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.
Published on in CHOP News
By standardizing how clinical information is analyzed, researchers found 11 causative genes associated with specific symptoms.
Published on in CHOP News
Assessing clinical data across the lifespan identified the impact of genetic epilepsies on affected children’s lives.
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.
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.