Were episodes of a baby suddenly lifting her arms above her head and crying out benign neonatal movements or seizures? How to make the diagnosis.

An experimental compound might be further developed as an effective treatment approach for affected patients.

This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.

Children’s Hospital of Philadelphia hosted The Runway, presented by the Jacovini Family, a contemporary lunchtime fashion show at the Mann Center curated by top Philadelphia-area boutiques and designers with proceeds benefitting CHOP’s Neuroscience Center. This year, more than $845,000 was raised!

The model could predict which newborns would receive the most benefit from monitoring with continuous EEG to detect seizures.

Patients with this complex neurological disorder experience a wide variety of symptoms, which can be managed with early and proper diagnosis.

STXBP1-related disorders include gastrointestional and respiratory symptoms in certain patients, according to extensive interviews with caregivers.

Through collaboration with research partners, patients, foundations, and community members, we are working to defeat childhood brain cancer and find better treatments for current patients. Read about recent milestones we’ve hit to accelerate pediatric brain tumor research.

Patients with the identified variant may respond favorably to targeted treatment with a readily available anti-seizure medication.

Certain patients were more likely to use telemedicine even with the reopening of in-person appointments, while barriers to telemedicine remained for some families.