ReviewJournal of inherited metabolic disease2007
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Review in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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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
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.Frontiers in cellular neuroscience · 2024Pooled it
- Utility of Seizure Pattern and Related Clinical Features in the Diagnosis of Neurometabolic Disorders.Iranian journal of child neurology · 2020Article
- Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.International journal of molecular sciences · 2017Review
- Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes.Korean journal of pediatrics · 2015Review
- Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.Neurology · 2015Article
- Clinical review of genetic epileptic encephalopathies.European journal of medical genetics · 2012Review
- Epilepsy and inborn errors of metabolism in children.Journal of inherited metabolic disease · 2009Review
- Neurometabolic disorders.Journal of inherited metabolic disease · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons: some IEMs respond to specific treatments, some antiepileptic drugs interfering with metabolic pathways may worsen the clinical condition, and specific genetic counselling can be provided. We review IEMs potentially revealed by epilepsy that can be encountered in an adult neurology department. We distinguished progressive myoclonic epilepsies (observed in some lysosomal storage diseases, respiratory chain disorders and Lafora disease), from other forms of epilepsies (observed in disorders of intermediary metabolism, including porphyrias, creatine metabolism defects, glucose transporter (GLUT-1) deficiency, Wilson disease or succinic semialdehyde dehydrogenase deficiency). We propose a diagnostic approach and point out clinical, radiological and electrophysiological features that suggest an IEM in an epileptic patient.
Indexed as
Identifiers
17957491What 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.