Observational studyMetabolic brain disease2018
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Observational study in Metabolic brain disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.International journal of neonatal screening · 2025Article
- Feasibility of newborn screening for pyridoxine-dependent epilepsy.Molecular genetics and metabolism · 2025Article
- Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.Frontiers in neurology · 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
- Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.Frontiers in genetics · 2024Article
- Utility and limitations of EEG in the diagnosis and management ofFrontiers in neurology · 2024Article
- Review
- Is Autonomic Nervous System Involved in the Epileptogenesis in Preterm Neonates?Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2023Article
- Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.Children (Basel, Switzerland) · 2023Review
- Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.Metabolic brain disease · 2022Article
- A case for newborn screening for pyridoxine-dependent epilepsy.Cold Spring Harbor molecular case studies · 2022Article
- A Rare Presentation Characterized by Epileptic Spasms inFrontiers in genetics · 2022Article
- Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns.Life (Basel, Switzerland) · 2021Review
- Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families WithFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of our study was to describe the clinical, electroencephalogram, molecular findings and the diagnostic and therapeutic flow-chart of children with pyridoxine-dependent epilepsies (PDEs). We performed a retrospective observational study on children with PDEs, diagnosed and followed-up in Italian Pediatric Departments. In each centre, the authors collected data from a cohort of children admitted for intractable seizures, responsive to pyridoxine administration and resistant to other anticonvulsant therapies. Data were retrospectively analysed from January 2016 to January 2017. Sixteen patients (13 males, and 3 females) were included. We found that 93.75% of patients underwent conventional anticonvulsant therapy before starting pyridoxine administration and 62.5% had ex-juvantibus diagnosis, as specific serum diagnostic tests had been performed in only 37.5% of patients by alpha-AASA and pipecolic acid blood and urine dosage. The most common type of seizure was generalized tonic-clonic in 7 patients and the most common EEG pattern was characterized by a "burst suppression" pattern. Before pyridoxine administration, other anticonvulsant drugs were used in 93.75% of patients, with consequent onset of drug-resistance. Phenobarbital was the most frequently used drug as first-line treatment. The importance of our study relies on the need of a deeper knowledge of PDEs in terms of early diagnosis, avoiding incorrect treatment and related adverse events, clinical and EEG pathognomonic features, and genetic aspects of the disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.