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

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.

American journal of medical genetics. Part A - 1 Jan 2021

Lo Barco Tommaso, Osanni Elisa, Bordugo Andrea, Rodella Giulia, Iascone Maria, Tenconi Romano, Barone Rita, Dalla Bernardina Bernardo, Cantalupo Gaetano

Abstract excerpt

Congenital glycosylation disorders (CDG) are inherited metabolic diseases due to defective glycoprotein and glycolipid glycan assembly and attachment. MOGS-CDG is a rare disorder with seven patients from five families reported worldwide. We report on a 19-year-old girl with MOGS-CDG. At birth she presented facial dysmorphism, marked hypotonia, and drug-resistant tonic seizures. In the following months, her...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Epilepsy

Share to Magnetic Resonance Imaging

Share to Movement Disorders

Share to Muscle Hypotonia

Share to Seizures

Source

Identifiers

PMID: 33058492
DOI: 10.1002/ajmg.a.61916

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.PMID 33058492Read ↗

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.Semantic proximity Read ↗

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.Semantic proximity Read ↗

Hyperkinetic movement disorders in congenital disorders of glycosylationSemantic proximity Read ↗

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.Semantic proximity Read ↗

Congenital Disorders of Glycosylation from a Neurological PerspectiveSemantic proximity Read ↗

SLC35A2-CDG: novel variants with two ends of the spectrum.Semantic proximity Read ↗

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.Semantic proximity Read ↗

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.Semantic proximity Read ↗

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.Semantic proximity Read ↗

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Semantic proximity Read ↗

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the communitySemantic proximity Read ↗

ALG11-CDG: novel variant and review of the literature.Semantic proximity Read ↗

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