Science Translational Medicine Publishes Paper by CURE Grantee Jeff Noebels, MD, PhD
Dr. Noebels received the Advancing Understanding of Infantile Spasms Award from CURE
Infantile spasms syndrome (ISS) is a devastating form of childhood epilepsy characterized by involuntary,massive motor spasms during early infancy that herald a lifelong disorder of severe seizures and intellectual disability. Mutations in a growing list of genes critical for the establishment of proper neural networks during development have been associated with its many inherited forms. ISS responds poorly to typical anticonvulsant drugs, and despite the lack of a known mechanism, the synthetic glucocorticoid prednisone and adrenocorticotropic hormone (ACTH) remain the primary initial treatments. Although short-term spasm reduction can be achieved, high relapse rates, cognitive impairment, and long-lasting side effects highlight the need for more effective therapy.
Click here to read the entire paper (PDF)