This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...
Nature

Bowel Management in Pediatric Neurogenic Disorders

Bowel management in pediatric neurogenic disorders presents a significant clinical challenge that requires a tailored and multidisciplinary approach. Children with congenital or acquired neurological ...