ArticleMetabolic brain disease2016
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Article in Metabolic brain disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development.Biomolecules · 2026Review
- Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.Molecular genetics and metabolism reports · 2025Article
- Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy.Analytical chemistry · 2025Article
- Feasibility of newborn screening for pyridoxine-dependent epilepsy.Molecular genetics and metabolism · 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
- Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.JIMD reports · 2024Article
- Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.Children (Basel, Switzerland) · 2023Review
- Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.Annals of the Child Neurology Society · 2023Article
- Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.Frontiers in neuroscience · 2023Article
- A case for newborn screening for pyridoxine-dependent epilepsy.Cold Spring Harbor molecular case studies · 2022Article
- Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families WithFrontiers in genetics · 2021Article
- Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms.Brain sciences · 2020Review
- Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.CNS neuroscience & therapeutics · 2019Article
- Treatable Genetic Metabolic Epilepsies.Current treatment options in neurology · 2017Review
- Pyridoxine-dependent and other pyridoxine-responsive epilepsies-insights into phenotype overlapping and the long-term outcome in a cohort of 21 children.Frontiers in neurologyArticle
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. The diagnosis was confirmed by ALDH7A1 sequencing, which allowed for the characterization of two homozygous variations [NM_001182.3:c.1279G > C - p.(Glu427Gln) and c.834G > A - p.(Val278Val)]. Brain autopsy was conducted for one untreated patient with molecularly confirmed antiquitin deficiency. Macroscopic and histological examination revealed a combination of lesions resulting from recurrent seizures and consisting of extensive areas of cortical necrosis, gliosis, and hippocampic sclerosis. The examination also revealed developmental abnormalities including corpus callosum dysgenesis and corticospinal pathfinding anomalies. This case is the second to be reported in the literature, and our findings show evidence that antiquitin is required for normal brain development and functioning. Despite prophylactic prenatal pyridoxine supplementation during the last trimester of pregnancy in one of the three families and sustained pyridoxine treatment in three living patients, the clinical outcome remained poor with delayed acquisition of neurocognitive skills. Combined therapy (pyridoxine/arginine supplementation and lysine-restricted diet) should be considered early in the course of the disease for a better long-term outcome. Enhanced knowledge of PDE features is required to improve treatment strategies.
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