ArticleJIMD reports2016
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 42 citations in OpenAlex.
- Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.Metabolites · 2026Review
- Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.Orphanet journal of rare diseases · 2024Article
- Aberrant glycosylation in schizophrenia: insights into pathophysiological mechanisms and therapeutic potentials.Frontiers in pharmacology · 2024Review
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- Forward Genetics-Based Approaches to Understanding the Systems Biology and Molecular Mechanisms of Epilepsy.International journal of molecular sciences · 2023Review
- Complex Neurological Phenotype Associated with a De NovoJournal of pediatric genetics · 2021Article
- Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.Journal of inherited metabolic disease · 2021Article
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.BMC ophthalmology · 2021Review
- Congenital Disorders of Glycosylation from a Neurological Perspective.Brain sciences · 2021Review
- Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.Orphanet journal of rare diseases · 2021Article
- Congenital Disorders of Glycosylation: What Clinicians Need to Know?Frontiers in pediatrics · 2021Review
- ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.Journal of human genetics · 2020Article
- Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.Brain & development · 2020Article
- Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.Pediatric neurology · 2019Article
- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.JIMD reports · 2019Article
- Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.International journal of molecular sciences · 2017Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and peripheral neuropathy. To assess the incidence, among early-onset epileptic encephalopathies (EOEE), of patients with identified congenital disorders of glycosylation (CDG), we made a review of clinical, electrophysiological, and neuroimaging findings of 27 CDG patients focusing on seizure onset, semiology and frequency, response to antiepileptic drugs (AED), and early epileptic manifestations. Epilepsy was uncommon in PMM2-CDG (11%), while it was a main concern in other rare forms. We describe a series of patients with EOEE and genetically confirmed CDG (ALG3-CDG, ALG6-CDG, DPM2-CDG, ALG1-CDG). Epileptic seizures at onset included myoclonic and clonic fits and focal seizures. With time, patients developed recurrent and intractable seizures principally tonic-clonic seizures, infantile spasms, and myoclonic seizures. Electrophysiological correlates included focal and multifocal epileptic discharges, slowed background rhythm, and generalized epileptic activity including burst suppression pattern and status epilepticus. We propose a diagnostic flowchart for the early diagnosis of CDG in patients presenting with EOEE and suggest to perform serum transferrin IEF (or capillary zone electrophoresis) as a first-line screening in early-onset epilepsy.
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