https://orcid.org/0000-0002-0099-109X
Overview
Dr. Gospe held the Herman and Faye Sarkowsky Endowed Chair of Child Neurology at the University of Washington and directed the Division of Neurology at Seattle Children's Hospital from 2000-2017. He joined the Duke faculty as Adjunct Professor of Pediatrics in 2017. Dr. Gospe's research focuses on the natural history, genetics and management of pyridoxine-dependent epilepsy.
Current Appointments & Affiliations
Adjunct Professor in the Department of Pediatrics
·
2018 - Present
Pediatrics, Neurology,
Pediatrics
Recent Publications
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
Journal Article Neuropediatrics · February 2026 Pyridoxal-5'-phosphate (PLP) is in most patients the effective treatment for pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency, a rare autosomal recessive cause of neonatal-onset developmental and epileptic encephalopathy. Although generally considered ... Full text Link to item CiteDe novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal Article Am J Hum Genet · January 8, 2026 Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A, a lysine demethylase crucial for embryonic development, in 18 in ... Full text Open Access Link to item CiteGeometric morphometrics in pyridoxine-dependent epilepsy: Shape analysis of skull, cerebellum, and corpus callosum.
Conference ANNALS OF NEUROLOGY · November 2025 Link to item CiteEducation
Duke University, School of Medicine ·
1981
M.D.
Duke University ·
1980
Ph.D.