ReviewFrontiers in neurology2018
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.
Review in Frontiers in neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Efficacy and safety of ketogenic diets in drug-resistant epilepsy: a systematic review and meta-analysis.World journal of pediatrics : WJP · 2025Pooled it
- Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.Orphanet journal of rare diseases · 2026Article
- Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience.BMC pediatrics · 2026Article
- ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.Neurogenetics · 2026Review
- Novel TRPM3 missense mutation leading to severe hypocalcemia presenting as seizures and complicated by non-sustained ventricular tachycardia: A case report.Qatar medical journal · 2025Article
- Developmental outcome of electroencephalographic findings inFrontiers in cell and developmental biology · 2024Article
- 2022 Overview of Metabolic Epilepsies.Genes · 2022Review
- Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.Brain sciences · 2021Review
- Inherited Developmental and Epileptic Encephalopathies.Neurology international · 2021Review
- Metabolic Epilepsy.Indian journal of pediatrics · 2021Review
- Inborn disorders of the malate aspartate shuttle.Journal of inherited metabolic disease · 2021Review
- Treatable inherited metabolic epilepsies.Neurosciences (Riyadh, Saudi Arabia) · 2021Review
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Focal corticarl dysplasia in epilepsy is associated with GABA increase.NeuroImage. Clinical · 2021Article
- Impact of predictive, preventive and precision medicine strategies in epilepsy.Nature reviews. Neurology · 2020Review
- Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- An Approach to Neurometabolic Epilepsy in Children with an Underlying Neurometabolic Disorder.Iranian journal of child neurology · 2020Article
- Inborn errors of metabolism.Handbook of clinical neurology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to control seizures, or to decrease the risk of neurodegeneration. We translate the currently-known literature on metabolic etiologies of epilepsy (268 inborn errors of metabolism belonging to 21 categories, with 74 treatable errors), into a 2-tiered diagnostic algorithm, with the first-tier comprising accessible, affordable, and less invasive screening tests in urine and blood, with the potential to identify the majority of treatable conditions, while the second-tier tests are ordered based on individual clinical signs and symptoms. This resource aims to support the pediatrician, neurologist, biochemical, and clinical geneticists in early identification of treatable inborn errors of metabolism in a child with seizures, allowing for timely initiation of targeted therapy with the potential to improve outcomes.
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What OpenQuestion holds
Registered trials
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.