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
NGLY1 deficiency: Novel variants and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104146
Abstract: NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is… read more here.
Keywords: ngly1 deficiency; deficiency novel; variants literature; novel variants ... See more keywords
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.902969
Abstract: Background: NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in NGLY1 are linked to a variable phenotype of global neurological dysfunction, abnormal tear production,… read more here.
Keywords: nervous musculoskeletal; ngly1 deficiency; zebrafish model; deficiency ... See more keywords