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
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Journal Article medRxiv · March 29, 2024 Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint con ... Full text Link to item CitePyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Journal Article Annals of the Child Neurology Society · March 2023 AbstractPyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine. Research conducted over the last ... Full text Open Access CiteNeonatal Seizures
Chapter · January 1, 2023 Seizures are a frequent neonatal emergency associated with a high degree of morbidity and mortality. Seizure is the presenting symptom of a wide range of underlying pathologies. Neonatologists should be comfortable with forming a differential diagnosis, ra ... Full text CiteEducation, Training & Certifications
Duke University, School of Medicine ·
1981
M.D.
Duke University ·
1980
Ph.D.