Pediatric Epilepsy & Neurodevelopmental Disorders

 Pediatric epilepsies represent a complex group of seizure disorders with diverse outcomes during development and later in life. Some forms of pediatric epilepsy associate with severe developmental delay or regression, autism-like characteristics, intellectual disability, and motor dysfunction, while the underlying cause of these disorders can vary from genetic abnormalities, injury, or unknown causes. Neurodevelopmental disorders collectively refer to impairments of brain development that impact important brain functions such as learning, emotion, memory, language, or motor control to name a few. Neurodevelopmental disorders can occur with or without seizures.

This group of diseases is an area of focus for the Orphan Disease Center. Through partnerships with foundations, clinicians, and Pharma, the ODC seeks to further the availability of resources for these diseases, develop new therapeutics, and leverage learnings across the community.

Angelman Syndrome

CDKL5 Deficiency Disorder (CDD) Program of Excellence

Rett Syndrome