Delineating the epilepsy phenotype of NGLY1 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12494
Abstract: We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi‐allelic (likely) pathogenic variants in NGLY1 as part… read more here.
Keywords: ngly1 deficiency; epilepsy; seizure; phenotype ngly1 ... See more keywords