ArticleAnnals of neurology2014
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
Article in Annals of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 56 citations in OpenAlex.
- Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?Journal of neuroscience research · 2026Review
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.International journal of molecular sciences · 2025Review
- Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.Molecular therapy. Nucleic acids · 2025Article
- Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review.Current developments in nutrition · 2025Review
- Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy.Analytical chemistry · 2025Article
- Dysregulation of astrocyte-derived matrix gla protein impairs dendritic spine development in pyridoxine-dependent epilepsy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- [Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2024Article
- Precision diagnosis and treatment of vitamin metabolism-related epilepsy.Acta epileptologica · 2024Review
- Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.Frontiers in neuroscience · 2023Article
- Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.International journal of molecular sciences · 2022Article
- Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.The Journal of clinical investigation · 2021Article
- A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.Human molecular genetics · 2020Article
- Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.Scientific reports · 2019Article
- Malformations of Cerebral Cortex Development: Molecules and Mechanisms.Annual review of pathology · 2019Review
- The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy.Frontiers in pediatrics · 2019Article
- Pyridoxine-dependent epilepsy: report on three families with neuropathology.Metabolic brain disease · 2016Article
- Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.JIMD reports · 2014Article
- Epilepsy and Hydrocephalus: Should Pyridoxine-Dependent Epilepsy Cross Our Minds?Annals of Indian Academy of NeurologyArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveA high incidence of structural brain abnormalities has been reported in individuals with pyridoxine-dependent epilepsy (PDE). PDE is caused by mutations in ALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown. In this study, we analyzed tissue from a child with PDE as well as control human and murine brain to determine the normal distribution of antiquitin, its distribution in PDE, and associated brain malformations.
methodsFormalin-fixed human brain sections were subjected to histopathology and fluorescence immunohistochemistry studies. Frozen brain tissue was utilized for measurement of PDE-associated metabolites and Western blot analysis. Comparative studies of antiquitin distribution were performed in developing mouse brain sections.
resultsHistologic analysis of PDE cortex revealed areas of abnormal radial neuronal organization consistent with type Ia focal cortical dysplasia. Heterotopic neurons were identified in subcortical white matter, as was cortical astrogliosis, hippocampal sclerosis, and status marmoratus of the basal ganglia. Highly elevated levels of lysine metabolites were present in postmortem PDE cortex. In control human and developing mouse brain, antiquitin immunofluorescence was identified in radial glia, mature astrocytes, ependyma, and choroid plexus epithelium, but not in neurons. In PDE cortex, antiquitin immunofluorescence was greatly attenuated with evidence of perinuclear accumulation in astrocytes.
interpretationAntiquitin is expressed within glial cells in the brain, and its dysfunction in PDE is associated with neuronal migration abnormalities and other structural brain defects. These malformations persist despite postnatal pyridoxine supplementation and likely contribute to neurodevelopmental impairments.
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