Epilepsy Neurogenetics Initiative (ENGIN) News

Recovery of normal signaling of a key brain cell may be a critical therapeutic target to reduce seizures and cognitive impairment.

Measuring days children are minimally impacted by seizures could help researchers determine effectiveness of precision medicine clinical trials.

CHOP is the only center to capture standardized clinical data from ongoing patient care.

A dozen patients have clinical features linked to the genetic variants, and preclinical models reveal more about how they affect normal function.

When applying new terminology to existing data through computational methods, researchers increased the number of descriptive terms five-fold, improving diagnostic capabilities.

By standardizing how clinical information is analyzed, researchers found 11 causative genes associated with specific symptoms.

Assessing clinical data across the lifespan identified the impact of genetic epilepsies on affected children’s lives.

Findings demonstrate that telemedicine will likely have an important role in clinical care that lasts far beyond the current pandemic that facilitated its necessity.

RNA editing is critical in brain development, and pinpointing this variant may lead to precision medicine developments for epilepsy in certain patients.

When Ryan was 5 months old, he went stiff in his mother’s arms, stopped breathing and turned blue. His parents, Jennifer and Derek, were petrified. Ryan was diagnosed with epilepsy, a condition that causes seizures.