ArticleJournal of inherited metabolic disease2010
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001262 (Early Copper Histidine Therapy in Menkes Disease), which is not on this map. Cited by 28 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.
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.
Early Copper Histidine Therapy in Menkes Disease
Who cites it
28 citing papers in PubMed, 59 citations in OpenAlex.
- Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) · 2014Trial
- Prolonged survival in Menkes disease with a novelWorld journal of clinical pediatrics · 2026Article
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Review
- Protein Carbonyl, Lipid Peroxidation, Glutathione and Enzymatic Antioxidant Status in Male Wistar Brain Sub-regions After Dietary Copper Deficiency.Indian journal of clinical biochemistry : IJCB · 2024Article
- Early clinical signs and treatment of Menkes disease.Molecular genetics and metabolism reports · 2022Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).Molecular genetics and metabolism reports · 2020Article
- Targeted next generation sequencing for newborn screening of Menkes disease.Molecular genetics and metabolism reports · 2020Article
- ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.Computational and structural biotechnology journal · 2020Article
- Disorders of metal metabolism.Translational science of rare diseases · 2017Review
- A novel nonsenseMolecular genetics and metabolism reports · 2017Article
- 13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.Metabolic brain disease · 2017Article
- Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.Metabolic brain disease · 2017Article
- Menkes disease: what a multidisciplinary approach can do.Journal of multidisciplinary healthcare · 2016Review
- Menkes disease in affected females: the clinical disease spectrum.American journal of medical genetics. Part A · 2015Review
- Mottled Mice and Non-Mammalian Models of Menkes Disease.Frontiers in molecular neuroscience · 2015Review
- Translational research investigations on ATP7A: an important human copper ATPase.Annals of the New York Academy of Sciences · 2014Review
- Menkes disease presenting with epilepsia partialis continua.Case reports in neurological medicine · 2014Article
- L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.Annals of neurology · 2013Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Epilepsy is a major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations in ATP7A, which produces a copper-transporting ATPase. Three prior surveys indicated clinical seizures and electroencephalographic (EEG) abnormalities in a combined 27 of 29 (93%) symptomatic Menkes disease patients diagnosed at 2 months of age or older. To assess the influence of earlier, presymptomatic diagnosis and treatment on seizure semiology and brain electrical activity, we evaluated 71 EEGs in 24 Menkes disease patients who were diagnosed and treated with copper injections in early infancy (≤6 weeks of age), and whose ATP7A mutations we determined. Clinical seizures were observed in only 12.5% (3/24) of these patients, although 46% (11/24) had at least one abnormal EEG tracing, including 50% of patients with large deletions in ATP7A, 50% of those with small deletions, 60% of those with nonsense mutations, and 57% of those with canonical splice junction mutations. In contrast, five patients with mutations shown to retain partial function, either via some correct RNA splicing or residual copper transport capacity, had neither clinical seizures nor EEG abnormalities. Our findings suggest that early diagnosis and treatment improve brain electrical activity and decrease seizure occurrence in classical Menkes disease irrespective of the precise molecular defect. Subjects with ATP7A mutations that retain some function seem particularly well protected by early intervention against the possibility of epilepsy.
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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.