ArticleEpilepsy research and treatment2013
Metabolic causes of epileptic encephalopathy.
Article in Epilepsy research and treatment, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Article
- Inflammatory Drug-Resistant Epilepsy Index (IDREI) as a Molecular Compound Biomarker in Focal Epilepsies.Biomolecules · 2025Observational
- Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications.Journal of clinical medicine · 2025Review
- A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature.Journal of medical case reports · 2021Review
- Tuning GABAergic Inhibition: Gephyrin Molecular Organization and Functions.Neuroscience · 2020Review
- Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review.Child neurology open · 2019Review
- Evaluation of the efficacy of amplitude-integrated electroencephalography in the screening of newborns with metabolic disorder admitted to the NICU.BMC medical imaging · 2018Article
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.Balkan medical journal · 2017Article
- Epileptogenesis in organotypic hippocampal cultures has limited dependence on culture medium composition.PloS one · 2017Article
- Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.American journal of human genetics · 2016Article
- Neonatal hypoglycemic brain injury is a cause of infantile spasms.Experimental and therapeutic medicine · 2016Article
- Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.Journal of applied genetics · 2015Review
- Neonatal Seizures: Impact on Neurodevelopmental Outcomes.Frontiers in pediatrics · 2015Review
- Genetic forms of epilepsies and other paroxysmal disorders.Seminars in neurology · 2014Review
- Recent advances in the pharmacotherapy of infantile spasms.CNS drugs · 2014Review
- Infantile Spasms: Clinical profile and treatment outcomes.Pakistan journal of medical sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and generalized epilepsies which in particular include myoclonic seizures. There are varying degrees of treatability, but the outcome if untreated can often be catastrophic. The importance of early recognition cannot be overemphasized. This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders (involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria) and large molecule disorders (including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies). Details including key clinical features, salient electrophysiological and neuroradiological findings, biochemical findings, and treatment options are summarized for prominent disorders in each category.
Identifiers
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.