Neurology Research and Innovation

Intractable Epilepsy Linked to Brain-Specific Genetic Mutation

DNA replication errors during development are revealed by genomic study.

Genomics

Intractable Epilepsy Linked to Brain-Specific Genetic Mutation

DNA replication errors during development are revealed by genomic study.

spinal muscular atrophy SMA

A Multicenter Look at Gene Therapy for SMA

In May 2019, when the U.S. FDA approved a gene replacement therapy for spinal muscular atrophy (SMA), approval included all children with SMA under age 2. However, the therapy had only been studied in children up to 8 months. A new study looks at the outcomes of a large cohort of patients who have received the therapy since approval.

Tween Boy

Brain Characteristics Associated with Epilepsy and Internalizing Disorders

Diffuse alterations in brain structure and function are seen in youth with epilepsy and symptoms of anxiety or depression.

Two boys

A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old

A prospective, multicenter study following 153 boys younger than 6 years old documents disease progression of Duchenne muscular dystrophy.

Heart Function

Cheaper, Generic Drug Just as Effective in Preserving Heart Function in Duchenne Muscular Dystrophy

A new clinical trial found a cheaper generic drug is effective in protecting the heart in boys with Duchenne muscular dystrophy.

Nationwide Children's Hospital Patient Photo

Targeting Cardiac-Related Strokes in Infants

New study describes risk factors for stroke in children with cardiac disease.