Advances in Pediatric Neurology Research: Genetic and Pharmacologic Therapies for Refractory Pediatric Neurologic Disorders: State of the Art Treatments for Epileptic Encephalopathies, Neuromuscular, Mitochondrial Disorders*

There is an unmet need for pharmacologic or genetic therapies which target the molecular mechanisms of early onset progressive neurologic disorders. Such treatment might lead to attenuation in the progression of these disorders, a decrease in their severity, improved quality of life or greater responsiveness to medications currently used for treatment. Advances in in genetic testing have identified a diverse range of mechanisms leading to early onset epileptic encephalopathies, mitochondrial and pediatric neuromuscular disorders. These discoveries have led to new pharmacologic and gene-based therapies which have transformed the care of children with some of these disorders, such as spinal muscular atrophy. This session will focus on recent developments in therapies aimed at gene regulation, as well as the development of novel drugs or repurposed extant drugs for treatment of these conditions. This session will be of value to adult neurologists as children with chronic neurologic disorders survive to adulthood but many adult neurologists may have limited exposure to these complex disorders.