ReviewCurrent treatment options in neurology2017
Treatable Genetic Metabolic Epilepsies.
Review in Current treatment options in neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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.
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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.
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Who cites it
7 citing papers in PubMed.
- Early rehabilitation interventions for global developmental delay in children: a narrative review.Frontiers in pediatrics · 2025Review
- High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.International journal of molecular sciences · 2024Article
- Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.Translational pediatrics · 2023Article
- Article
- Treatable inherited metabolic epilepsies.Neurosciences (Riyadh, Saudi Arabia) · 2021Review
- Potentiating Hemorrhage in a Periadolescent Rat Model of Closed-Head Traumatic Brain Injury Worsens Hyperexcitability but Not Behavioral Deficits.International journal of molecular sciences · 2021Article
- Enhanced setup for wired continuous long-term EEG monitoring in juvenile and adult rats: application for epilepsy and other disorders.BMC neuroscience · 2019Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
opinion statementIn the absence of a culprit epileptogenic lesion, pharmacoresistant seizures should prompt the physician to consider potentially treatable metabolic epilepsies, especially in the presence of developmental delays. Even though the anti-seizure treatment of the epilepsies remains symptomatic and usually tailored to an electroclinical phenotype rather than to an underlying etiology, a thorough metabolic workup might reveal a disease with an etiology-specific treatment. Early diagnosis is essential in the case of treatable metabolic epilepsies allowing timely intervention. Despite the advances in genetic testing, biochemical testing including cerebrospinal fluid studies are still needed to expedite the diagnostic workup and potential therapeutic trials. The diagnostician should have a high index of suspicion despite potential clinical digressions from seminal publications describing the initial cases, as these index patients may represent the most severe form of the condition rather than its most common presenting form. The often gratifying developmental outcome and seizure control with early treatment calls for a prompt diagnostic consideration of treatable metabolic diseases; even though relatively rare or potentially only seemingly so.
Indexed as
Identifiers
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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.