Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Delineating the epilepsy phenotype of NGLY1 deficiency.

Journal of inherited metabolic disease - 1 May 2022

Levy Rebecca J, Frater Christina H, Gallentine William B, Phillips Jennifer M, Ruzhnikov Maura R

Abstract excerpt

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 of an ongoing prospective natural history study. Participants were evaluated in-person at a single center and/or remotely. Historical medical records...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Epilepsy

Share to Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

Share to Phenotype

Share to Seizures

Source

Identifiers

PMID: 35243670
DOI: 10.1002/jimd.12494

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineating the epilepsy phenotype of NGLY1 deficiency.PMID 35243670Read ↗

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.Semantic proximity Read ↗

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.Semantic proximity Read ↗

Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional StudySemantic proximity Read ↗

Clinical review of genetic epileptic encephalopathies.Semantic proximity Read ↗

Natural history of NGLY1 deficiency: motor function & clinical features.Semantic proximity Read ↗

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.Semantic proximity Read ↗

Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.Semantic proximity Read ↗

Genetics of epilepsy and relevance to current practice.Semantic proximity Read ↗

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.Semantic proximity Read ↗

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.Semantic proximity Read ↗

The landscape of epilepsy-related GATOR1 variants.Semantic proximity Read ↗

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.