Neurology researchers studying a rare, devastating condition in infants have discovered the cause: gene mutations that disrupt mitochondria in cells.

CHOP has found a long-suspected “missing mutation” in severe infant epilepsy, with early hints that anti-seizure drugs might help patients.

In a rare genetic disorder causing severe, progressive neurological problems, CHOP researchers find hints that an amino acid supplement might be a targeted therapy.

The Leukodystrophy Center sees patients from all over the country and the world. Our services include a newborn diagnostic clinic and a comprehensive care clinic that provides state-of-the art care.

Al Jalila Children’s has entered into a Memorandum of Understanding with Children's Hospital of Philadelphia to collaborate on a dedicated neurology outreach program.

For children on the ketogenic (keto) diet, keeping hydrated is essential to prevent constipation and kidney stones.

We know that cooking for the ketogenic diet can be a challenge. We’re here to help with dozens of kid-friendly recipes and some new step-by-step cooking videos.

Rettsyndrome.org, a nonprofit organization dedicated to accelerating research of treatments and a cure for Rett syndrome, has named CHOP a Clinical Research Center of Excellence.

Adeline Vanderver, MD, aims to take leukodystrophy gene discovery, therapies, support and advocacy to the next level.

According to recent research led by CHOP neurologist Lori Billinghurst, MD, children are more likely than adults to report headache at the onset of stroke.